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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 25 717 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577520 7577520 + Missense_Mutation SNP A A C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:7577520A>C ENST00000420246.2 - 7 893 c.761T>G c.(760-762)aTc>aGc p.I254S TP53_ENST00000359597.4_Missense_Mutation_p.I254S|TP53_ENST00000455263.2_Missense_Mutation_p.I254S|TP53_ENST00000269305.4_Missense_Mutation_p.I254S|TP53_ENST00000413465.2_Missense_Mutation_p.I254S|TP53_ENST00000445888.2_Missense_Mutation_p.I254S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 254 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.I254S(6)|p.L252_I254delLTI(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(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) CAGTGTGATGATGGTGAGGAT 0.587000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 68 231 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45839477 45839477 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:45839477C>T ENST00000311275.7 - 22 3743 c.3490G>A c.(3490-3492)Gat>Aat p.D1164N ZMYND8_ENST00000461685.1_Missense_Mutation_p.D1166N|ZMYND8_ENST00000352431.2_Missense_Mutation_p.D1138N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.D1146N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D1113N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D1212N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.D1083N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D1114N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D1164N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.D1112N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.D1032N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.D1192N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.D1219N Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 1164 Interacts with PRKCB1. protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GTGTTGTGATCGGAACGTGTC 0.547000 54 456 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105360959 105360959 + Missense_Mutation SNP C C T rs138578884 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:105360959C>T ENST00000297581.2 + 2 228 c.179C>T c.(178-180)gCg>gTg p.A60V DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A60V NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 60 Poly-Ala. osteoclast differentiation cell surface|integral to membrane|plasma membrane TCAATCATAGCGGCCGCTGCC 0.498000 214 562 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1592049 1592049 + Silent SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:1592049G>A ENST00000279477.7 - 2 451 c.387C>T c.(385-387)gaC>gaT p.D129D RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Silent_p.D129D|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 129 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 ACTCCACGTGGTCGGGGCTCC 0.522000 5 194 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108718972 108718972 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:108718972G>A ENST00000218006.2 - 2 485 c.194C>T c.(193-195)tCg>tTg p.S65L NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 65 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TGAAAACAGCGAATCACAAGC 0.532000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 228 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 10 528 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V 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) GGCACCACcagcagcagcagc 0.692000 7 140 0 0 1 0 0 ZHX3 23051 broad.mit.edu 37 20 39830760 39830760 + Missense_Mutation SNP G G A rs148495510 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:39830760G>A ENST00000309060.3 - 4 3212 c.2797C>T c.(2797-2799)Cgt>Tgt p.R933C ZHX3_ENST00000560361.1_Missense_Mutation_p.R933C|ZHX3_ENST00000559234.1_Missense_Mutation_p.R933C|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.R933C|ZHX3_ENST00000540170.1_Missense_Mutation_p.R933C Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 933 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) TCAGGGACACGGGGCTCCCAC 0.597000 47 399 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10518392 10518392 + Silent SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:10518392C>T ENST00000444303.2 + 9 1459 c.987C>T c.(985-987)aaC>aaT p.N329N AMPD3_ENST00000396554.3_Silent_p.N497N NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 488 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) TGCTGCCAAACTTTGGGAAGA 0.502000 40 508 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 10 279 0 0 1 0 0 TMEM18 129787 broad.mit.edu 37 2 669842 669842 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:669842G>A ENST00000281017.3 - 4 335 c.242C>T c.(241-243)tCg>tTg p.S81L TMEM18_ENST00000405941.3_Missense_Mutation_p.S84L|TMEM18_ENST00000355654.2_Missense_Mutation_p.S68L NM_152834.2 NP_690047.2 Q96B42 TMM18_HUMAN transmembrane protein 18 81 cell migration integral to membrane|nuclear membrane endometrium(1)|large_intestine(1)|lung(7)|ovary(1) 10 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) CTGGTATTTCGAAAATAATCT 0.368000 21 143 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 12 161 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113205879 113205879 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr9:113205879C>A ENST00000401783.2 - 27 4921 c.4585G>T c.(4585-4587)Gat>Tat p.D1529Y SVEP1_ENST00000374469.1_Missense_Mutation_p.D1506Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1529Y NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1529 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AATTTCCCATCGATATAGACT 0.438000 23 166 2.41591e-17 2.80026e-17 1 1 0 PODXL2 50512 broad.mit.edu 37 3 127387409 127387409 + Silent SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:127387409G>A ENST00000342480.6 + 5 1371 c.1332G>A c.(1330-1332)caG>caA p.Q444Q NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 444 leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 AGAAGGAGCAGCACCTTCTCA 0.687000 3 70 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26428314 26428314 + RNA SNP G G A rs12201546 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:26428314G>A ENST00000466808.2 + 0 1283 AAGAACTTCAGATAAACAGTA 0.463000 5 88 0 0 1 0 0 CCNK 8812 broad.mit.edu 37 14 99968673 99968673 + Nonsense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:99968673G>A ENST00000389879.5 + 7 828 c.705G>A c.(703-705)tgG>tgA p.W235* CCNK_ENST00000555049.1_Nonsense_Mutation_p.W235*|CCNK_ENST00000557165.1_3'UTR NM_001099402.1 NP_001092872.1 O75909 CCNK_HUMAN cyclin K 235 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) GGAGATGGTGGGAGCAGTTTG 0.463000 5 153 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25023539 25023539 + Silent SNP C C G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:25023539C>G ENST00000400382.1 + 12 1916 c.1161C>G c.(1159-1161)gtC>gtG p.V387V GGT1_ENST00000400380.1_Silent_p.V387V|GGT1_ENST00000406383.2_Silent_p.V387V|GGT1_ENST00000404920.1_Silent_p.V43V|GGT1_ENST00000404532.1_Silent_p.V43V|GGT1_ENST00000404223.1_Silent_p.V43V|GGT1_ENST00000403838.1_Silent_p.V43V|GGT1_ENST00000401885.1_Silent_p.V43V|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Silent_p.V387V|GGT1_ENST00000248923.4_Silent_p.V387V P19440 GGT1_HUMAN gamma-glutamyltransferase 1 387 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TGTCTGTCGTCGCAGAGGACG 0.657000 4 148 0 0 1 0 0 MRI1 84245 broad.mit.edu 37 19 13875456 13875456 + Missense_Mutation SNP G G T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:13875456G>T ENST00000319545.8 + 1 111 c.54G>T c.(52-54)caG>caT p.Q18H MRI1_ENST00000040663.6_Missense_Mutation_p.Q18H NM_032285.2 NP_115661.1 Q9BV20 MTNA_HUMAN methylthioribose-1-phosphate isomerase 1 18 L-methionine salvage from methylthioadenosine cell projection|cytoplasm|nucleus identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity p.Q18H(4) breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 TCCTAGACCAGCTGCTGCTGC 0.706000 10 207 2.74318e-10 3.10894e-10 1 1 0 AJAP1 55966 broad.mit.edu 37 1 4772232 4772232 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:4772232C>A ENST00000378191.4 + 2 683 c.302C>A c.(301-303)gCc>gAc p.A101D AJAP1_ENST00000378190.3_Missense_Mutation_p.A101D NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 101 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) GCCAGACGGGCCCACAGGCCC 0.736000 4 29 0.00909568 0.00959751 1 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 286 0 0 1 0 0 THAP7-AS1 0 broad.mit.edu 37 22 21363392 21363392 + RNA SNP G G A rs28522842 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:21363392G>A ENST00000452284.1 + 0 1059 TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA NR_027051.1 GGGCCCCATCGAATCACAGGG 0.562000 11 399 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62044927 62044927 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:62044927G>A ENST00000354587.3 - 13 1731 c.1555C>T c.(1555-1557)Cgg>Tgg p.R519W KCNQ2_ENST00000359125.2_Missense_Mutation_p.R547W|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R529W|KCNQ2_ENST00000430658.1_Missense_Mutation_p.R516W|KCNQ2_ENST00000344462.3_Missense_Mutation_p.R507W|KCNQ2_ENST00000370226.1_Missense_Mutation_p.R517W|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R519W|KCNQ2_ENST00000370222.3_Missense_Mutation_p.R519W|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R547W|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R519W O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 547 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) ACCAGGAACCGCATGACACTG 0.657000 80 568 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018569 36018569 + Silent SNP T T C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:36018569T>C ENST00000452271.2 - 1 643 c.615A>G c.(613-615)agA>agG p.R205R SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 200 Ala/Gly/His-rich. extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTGGCCAAATCTCCCAGCCT 0.632000 3 70 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 8 145 0 0 1 0 0 C4orf22 255119 broad.mit.edu 37 4 81791173 81791173 + Missense_Mutation SNP T T A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:81791173T>A ENST00000358105.3 + 4 409 c.360T>A c.(358-360)aaT>aaA p.N120K C4orf22_ENST00000508675.1_Missense_Mutation_p.N137K NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 120 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 GTGACAGAAATTCTCATGGGC 0.363000 83 400 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515435 195515435 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:195515435C>T ENST00000463781.3 - 2 3475 c.3016G>A c.(3016-3018)Gcc>Acc p.A1006T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1008 Repeat.|Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A1006T(2) 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) AGAGGGGTGGCGTGACCTGTG 0.582000 4 24 0 0 1 0 0 LRP11 84918 broad.mit.edu 37 6 150164252 150164252 + Silent SNP T T C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:150164252T>C ENST00000239367.2 - 3 785 c.780A>G c.(778-780)caA>caG p.Q260Q LRP11_ENST00000367368.2_Silent_p.Q260Q|LRP11_ENST00000546019.1_Silent_p.Q5Q NM_032832.5 NP_116221.3 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 260 PKD. integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) GGGTTCCTGATTGAGGCACCT 0.577000 42 300 0 0 1 0 0 ZNF79 7633 broad.mit.edu 37 9 130207140 130207140 + Silent SNP A A G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr9:130207140A>G ENST00000342483.5 + 5 1567 c.1161A>G c.(1159-1161)aaA>aaG p.K387K ZNF79_ENST00000543471.1_Silent_p.K363K NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 CTGGGGAGAAACCCTACAAGT 0.532000 8 468 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 7 373 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141771238 141771238 + Missense_Mutation SNP T T A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:141771238T>A ENST00000389484.3 - 14 3238 c.2267A>T c.(2266-2268)tAt>tTt p.Y756F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 756 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCATTCATATAATCAGTCCA 0.388000 TSP Lung(27;0.18) 129 544 0 0 1 0 0 GOLGA2B 0 broad.mit.edu 37 12 100559710 100559710 + RNA SNP T T G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:100559710T>G ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 CAGAGGCTGGTGCCCGCCTTC 0.602000 8 52 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89346906 89346906 + Missense_Mutation SNP T T G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:89346906T>G ENST00000301030.4 - 9 6504 c.6044A>C c.(6043-6045)tAc>tCc p.Y2015S ANKRD11_ENST00000378330.2_Missense_Mutation_p.Y2015S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2015 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) AGGGGCGGGGTACGGCGCCTC 0.721000 6 66 0 0 1 0 0 RP11-1166P10.8 0 broad.mit.edu 37 16 32163525 32163525 + RNA SNP G G A rs116644637 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:32163525G>A ENST00000564145.1 - 0 65 TGCCAGTCACGGTGCCTTCTC 0.567000 7 287 0 0 1 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190779 39190779 + Missense_Mutation SNP T T C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:39190779T>C ENST00000344363.5 - 1 328 c.295A>G c.(295-297)Agt>Ggt p.S99G NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 109 extracellular region|keratin filament structural constituent of epidermis p.S99G(2) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACAGCTCCACTGCTGCCCTCC 0.652000 8 188 0 0 1 0 0 RPLP0P2 0 broad.mit.edu 37 11 61405030 61405030 + RNA SNP T T A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:61405030T>A ENST00000496593.1 + 0 1634 NR_002775.2 ctgctgctgctgcAGCCCCAG 0.552000 7 189 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 162 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19492919 19492919 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:19492919C>T ENST00000407835.1 + 11 995 c.739C>T c.(739-741)Cgc>Tgc p.R247C CDC45_ENST00000437685.2_Missense_Mutation_p.R279C|CDC45_ENST00000404724.3_Missense_Mutation_p.R201C|CDC45_ENST00000263201.1_Missense_Mutation_p.R247C O75419 CDC45_HUMAN cell division cycle 45 247 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 TGTCCTGCAGCGCCACGTTTC 0.537000 15 208 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 22 751 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100211266 100211266 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:100211266C>A ENST00000524871.1 + 22 3092 c.2802C>A c.(2800-2802)ttC>ttA p.F934L CNTN5_ENST00000418526.2_Missense_Mutation_p.F860L|CNTN5_ENST00000528682.1_Missense_Mutation_p.F934L|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.F934L NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 934 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding p.F934F(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATGAGTCTTTCGTCATCCTAA 0.423000 32 113 3.86903e-22 4.51879e-22 1 1 0 FAT4 79633 broad.mit.edu 37 4 126372829 126372829 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:126372829C>T ENST00000394329.3 + 9 10671 c.10658C>T c.(10657-10659)cCt>cTt p.P3553L FAT4_ENST00000335110.5_Missense_Mutation_p.P1851L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3553 Cadherin 34. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGCACAGGTCCTGCCACCAGT 0.493000 181 673 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4920917 4920917 + Silent SNP A A G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:4920917A>G ENST00000396658.4 + 10 2206 c.1503A>G c.(1501-1503)aaA>aaG p.K501K UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K|UBN1_ENST00000545171.1_Silent_p.K501K NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 501 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K501K(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 ATGAAGAAAAAGGGGGCAGGA 0.522000 5 306 0 0 1 0 0 RAB6A 5870 broad.mit.edu 37 11 73471653 73471653 + Missense_Mutation SNP G G T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:73471653G>T ENST00000310653.6 - 1 529 c.28C>A c.(28-30)Ccg>Acg p.P10T RP11-707G14.1_ENST00000540547.1_RNA|RAB6A_ENST00000541588.1_Missense_Mutation_p.P10T|RAB6A_ENST00000336083.3_Missense_Mutation_p.P10T NM_001077637.1|NM_002869.4 NP_001071105.1|NP_002860.2 P20340 RAB6A_HUMAN RAB6A, member RAS oncogene family 10 minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network GTP binding|GTPase activity|protein domain specific binding large_intestine(2)|lung(2) 4 TTCCTCAGCGGATTCCCGAAG 0.667000 4 102 0.217242 0.224581 1 1 0 LRP2 4036 broad.mit.edu 37 2 170092528 170092528 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:170092528C>T ENST00000263816.3 - 29 5027 c.4742G>A c.(4741-4743)cGa>cAa p.R1581Q NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1581 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CATGCTGGCTCGCTCGATGCG 0.512000 18 183 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 435653 435653 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:435653C>T ENST00000338977.5 - 2 2615 c.2567G>A c.(2566-2568)gGa>gAa p.G856E ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.G868E|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 GCCACATTCTCCACATGTGTA 0.418000 7 355 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194147858 194147858 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:194147858C>A ENST00000439040.1 - 29 3862 c.3071G>T c.(3070-3072)gGt>gTt p.G1024V ATP13A3_ENST00000256031.4_Missense_Mutation_p.G1024V Q9H7F0 AT133_HUMAN ATPase type 13A3 1024 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) CCAAAAAAAACCCAAAGATTG 0.393000 6 292 5.18039e-06 5.70216e-06 1 1 0 KRT37 8688 broad.mit.edu 37 17 39579066 39579066 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:39579066C>A ENST00000225550.3 - 3 695 c.696G>T c.(694-696)aaG>aaT p.K232N AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 232 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) GCTGCTCCTCCTTCAGGGACT 0.682000 25 239 3.65163e-15 4.20075e-15 1 1 0 UQCC 0 broad.mit.edu 37 20 33962046 33962046 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:33962046G>A ENST00000397554.1 - 5 357 c.347C>T c.(346-348)gCg>gTg p.A116V UQCC_ENST00000397556.3_Missense_Mutation_p.A17V|UQCC_ENST00000374385.5_Missense_Mutation_p.A116V|UQCC_ENST00000374380.2_Missense_Mutation_p.A48V|UQCC_ENST00000374384.2_Missense_Mutation_p.A116V|UQCC_ENST00000359226.2_Intron|UQCC_ENST00000349714.5_Intron|UQCC_ENST00000542501.1_Intron|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000374377.5_Intron|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000407996.2_Intron Q9NVA1 UQCC_HUMAN 116 cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCGCAGGGCCGCAATCTTAAT 0.363000 7 481 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433006 55433006 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:55433006G>A ENST00000314259.3 + 1 393 c.364G>A c.(364-366)Gtg>Atg p.V122M NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V122L(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGACCGCTACGTGGCCATCTG 0.547000 109 436 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 8 460 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 16 527 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219503301 219503301 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:219503301G>A ENST00000411696.2 - 9 5604 c.4825C>T c.(4825-4827)Cgc>Tgc p.R1609C ZNF142_ENST00000449707.1_Missense_Mutation_p.R1609C P52746 ZN142_HUMAN zinc finger protein 142 1609 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCATGATGGCGCAGGCCAGCA 0.612000 29 273 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79761987 79761987 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:79761987C>A ENST00000372371.3 - 17 2464 c.2327G>T c.(2326-2328)aGc>aTc p.S776I NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 776 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GGTGAGGGGGCTGTTGCTCTT 0.587000 3 36 0.184627 0.192163 1 1 0 FUK 197258 broad.mit.edu 37 16 70500121 70500121 + Silent SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:70500121C>A ENST00000288078.6 + 5 604 c.372C>A c.(370-372)gtC>gtA p.V124V FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Silent_p.V107V|FUK_ENST00000378912.2_Silent_p.V156V NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 124 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) AAGCCTTGGTCTGCAACCTGG 0.637000 6 332 1 1 1 1 0 JAG2 3714 broad.mit.edu 37 14 105609113 105609113 + Silent SNP C C A rs3122382 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:105609113C>A ENST00000331782.3 - 26 4039 c.3636G>T c.(3634-3636)ccG>ccT p.P1212P JAG2_ENST00000347004.2_Silent_p.P1174P NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 1212 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CCCAGTGGGCCGGCCTCCCCG 0.672000 3 95 1 1 1 1 0 ZAN 7455 broad.mit.edu 37 7 100349878 100349878 + RNA SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:100349878C>T ENST00000542585.1 + 0 2298 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_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 p.P717L(2) 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) CCAGAAAAACCCACCATCCCC 0.507000 7 423 0 0 1 0 0 SLC12A3 0 broad.mit.edu 37 16 56924262 56924262 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:56924262G>A ENST00000438926.2 + 19 2391 c.2362G>A c.(2362-2364)Gcg>Acg p.A788T SLC12A3_ENST00000262502.5_Missense_Mutation_p.A787T|SLC12A3_ENST00000563236.1_Missense_Mutation_p.A788T|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A787T NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 788 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GATGATGCAGGCGCACAGTGA 0.458000 6 358 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 620015 620015 + Silent SNP G G C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:620015G>C ENST00000588649.2 - 12 2913 c.2829C>G c.(2827-2829)tcC>tcG p.S943S NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 943 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGTTGACGGAGGCGGCGC 0.697000 3 31 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1536305 1536305 + Missense_Mutation SNP C C T rs139020235 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:1536305C>T ENST00000447419.2 - 3 1097 c.1072G>A c.(1072-1074)Ggc>Agc p.G358S PTX4_ENST00000293922.1_Missense_Mutation_p.G353S|PTX4_ENST00000440447.2_3'UTR Q96A99 PTX4_HUMAN pentraxin 4, long 358 Pentaxin. extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 TGCCACTGGCCGTCCAGCAGC 0.672000 6 194 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70486728 70486728 + Nonsense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:70486728G>A ENST00000310961.5 + 17 1780 c.1362G>A c.(1360-1362)tgG>tgA p.W454* RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.W449* Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 449 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CTACACTGTGGGAAGAGCAGA 0.348000 4 229 0 0 1 0 0 ATAD3A 55210 broad.mit.edu 37 1 1447653 1447653 + Nonsense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:1447653C>A ENST00000378755.5 + 1 99 c.5C>A c.(4-6)tCg>tAg p.S2* ATAD3A_ENST00000378756.3_Nonsense_Mutation_p.S2* NM_018188.3 NP_060658.3 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 2 ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) GCGAGCATGTCGTGGCTCTTC 0.786000 3 52 0.115264 0.12079 1 1 0 STK36 27148 broad.mit.edu 37 2 219545333 219545333 + Silent SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:219545333C>A ENST00000295709.3 + 10 1423 c.1144C>A c.(1144-1146)Cgg>Agg p.R382R STK36_ENST00000392106.2_Silent_p.R382R|STK36_ENST00000440309.1_Silent_p.R382R|STK36_ENST00000392105.3_Silent_p.R382R NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 382 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CAGGGAAAACCGGACCACCCC 0.552000 4 131 0.000157383 0.000169575 1 1 0 TMX1 81542 broad.mit.edu 37 14 51716045 51716045 + Splice_Site SNP A A T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:51716045A>T ENST00000457354.2 + 5 570 c.443_splice c.e5-1 p.M149_splice NM_030755.4 NP_110382.3 Q9H3N1 TMX1_HUMAN thioredoxin-related transmembrane protein 1 149 anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity endometrium(2)|large_intestine(2)|urinary_tract(1) 5 TATTTTTAGGATGAGTAGTAT 0.284000 35 313 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47684620 47684620 + Silent SNP T T A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:47684620T>A ENST00000525123.1 - 18 2778 c.2493A>T c.(2491-2493)tcA>tcT p.S831S AGBL2_ENST00000357610.3_Silent_p.S833S|AGBL2_ENST00000298861.4_Silent_p.S831S NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 831 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 GGGTGGCCATTGATGGGTCCA 0.353000 117 1220 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587708 43587708 + RNA SNP A A G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:43587708A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA AACAACCACCATCTCCAAATC 0.348000 8 416 0 0 1 0 0 SULT1C2 6819 broad.mit.edu 37 2 108917367 108917367 + Silent SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:108917367G>A ENST00000326853.5 + 5 837 c.384G>A c.(382-384)ccG>ccA p.P128P SULT1C2_ENST00000251481.6_Silent_p.P117P|SULT1C2_ENST00000437390.2_Silent_p.P131P|SULT1C2_ENST00000409880.1_Intron NM_176825.2 NP_789795.1 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 2 117 Y -> H (in dbSNP:rs17036091). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TGCTGCCACCGTCTTTCTGGG 0.488000 118 512 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron 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 12 706 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49713525 49713525 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:49713525G>A ENST00000252826.5 + 21 3317 c.3191G>A c.(3190-3192)cGc>cAc p.R1064H TRPM4_ENST00000355712.5_Missense_Mutation_p.R710H|TRPM4_ENST00000427978.2_Missense_Mutation_p.R919H NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 1064 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CAGCGTTACCGCCTCATCCGG 0.607000 133 425 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 5 65 0.000157383 0.000169575 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 15 856 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345723 33345723 + Silent SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:33345723C>T ENST00000374796.2 - 8 3398 c.828G>A c.(826-828)caG>caA p.Q276Q NCOA6_ENST00000359003.2_Silent_p.Q276Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 276 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding 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 gctgttgttgctgctgctgct 0.537000 5 208 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 7 393 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) 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) tgctgctactgctgctgctgc 0.532000 T MLL ALL 10 223 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 879935 879935 + Splice_Site SNP A A G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:879935A>G ENST00000312090.6 - 8 1504 c.e8+1 MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Splice_Site|MED16_ENST00000395808.3_Splice_Site|MED16_ENST00000589119.1_Splice_Site|MED16_ENST00000269814.4_Splice_Site Q9Y2X0 MED16_HUMAN mediator complex subunit 16 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;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) CCAGCAGCTCACCTTCCCGTG 0.667000 3 68 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103175414 103175414 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:103175414C>A ENST00000375735.2 + 77 11491 c.11347C>A c.(11347-11349)Cat>Aat p.H3783N DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H3790N NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3783 AAA 6 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GAAGAACTTACATCTTGTGGT 0.398000 17 381 7.45023e-12 8.5066e-12 1 1 0 PXT1 222659 broad.mit.edu 37 6 36368246 36368246 + Silent SNP A A G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:36368246A>G ENST00000454782.2 - 4 768 c.285T>C c.(283-285)caT>caC p.H95H NM_152990.3 NP_694535.2 Q8NFP0 PXT1_HUMAN peroxisomal, testis specific 1 12 peroxisome GAACCATCCTATGATCAATGT 0.507000 186 555 0 0 1 0 0 UBQLN2 29978 broad.mit.edu 37 X 56590932 56590932 + Missense_Mutation SNP C C G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:56590932C>G ENST00000338222.5 + 1 907 c.626C>G c.(625-627)cCa>cGa p.P209R NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 209 cytoplasm|nucleus|plasma membrane binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 ATGGCTAATCCACAGATGCAG 0.463000 33 189 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803621 142803621 + RNA SNP T T C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:142803621T>C ENST00000423385.1 - 0 1344 TGGAAGAaactaatatctgtt 0.303000 7 478 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51370621 51370621 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:51370621G>A ENST00000266037.9 + 35 3571 c.3548G>A c.(3547-3549)cGc>cAc p.R1183H NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1183 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GAAACATGGCGCGAGACCGGC 0.532000 65 708 0 0 1 0 0 WASL 8976 broad.mit.edu 37 7 123349222 123349222 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:123349222G>A ENST00000223023.4 - 2 505 c.173C>T c.(172-174)tCa>tTa p.S58L NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 58 WH1. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCACTTCTTTGACCACATACA 0.338000 38 387 0 0 1 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19363332 19363332 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:19363332C>T ENST00000454498.2 - 4 1027 c.14G>A c.(13-15)cGc>cAc p.R5H CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R5H NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 5 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) CAGCCCCCGGCGAACCATCAT 0.602000 37 428 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606442 21606442 + Silent SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:21606442C>T ENST00000392288.2 + 4 1090 c.981C>T c.(979-981)ggC>ggT p.G327G CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.G199G NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 AAGAATGTGGCAAAGCCTTTA 0.333000 24 314 0 0 1 0 0 DAGLB 221955 broad.mit.edu 37 7 6465643 6465643 + Silent SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:6465643G>A ENST00000297056.6 - 7 1201 c.1032C>T c.(1030-1032)ttC>ttT p.F344F DAGLB_ENST00000428902.2_Silent_p.F217F|DAGLB_ENST00000436575.1_Silent_p.F303F|DAGLB_ENST00000425398.2_Silent_p.F215F|DAGLB_ENST00000421761.2_Silent_p.F88F NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 344 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) TGACGTGGATGAAGTCCCTGT 0.532000 74 303 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118315573 118315573 + Silent SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:118315573C>T ENST00000369221.2 + 9 901 c.873C>T c.(871-873)atC>atT p.I291I NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 291 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) CTGATAGCATCGTCAACCCTG 0.433000 75 629 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32032046 32032046 + Missense_Mutation SNP G G A rs143925165 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:32032046G>A ENST00000360311.4 + 2 2024 c.1475G>A c.(1474-1476)cGt>cAt p.R492H NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCGTCACAATTCA 0.403000 17 627 0 0 1 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004308 102004308 + Missense_Mutation SNP G G T rs112563174 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:102004308G>T ENST00000372735.1 + 4 970 c.385G>T c.(385-387)Gct>Tct p.A129S BHLHB9_ENST00000457056.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A129S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A129S Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 129 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGGAGAAGAGGCTGGTAATAG 0.512000 6 286 3.59834e-05 3.93247e-05 1 1 0 AEBP1 165 broad.mit.edu 37 7 44146353 44146353 + Silent SNP A A G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:44146353A>G ENST00000223357.3 + 2 767 c.462A>G c.(460-462)aaA>aaG p.K154K NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 154 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 AGAAGCCCAAAGAGAAGCCAC 0.627000 4 140 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117250657 117250657 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:117250657G>A ENST00000003084.6 + 19 3205 c.3073G>A c.(3073-3075)Gct>Act p.A1025T CFTR_ENST00000454343.1_Missense_Mutation_p.A964T|AC000111.6_ENST00000456270.1_RNA NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1025 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AGTGATAGTGGCTTTTATTAT 0.383000 Cystic Fibrosis 35 337 0 0 1 0 0 PRRX1 5396 broad.mit.edu 37 1 170699464 170699464 + Missense_Mutation SNP G G A rs148536447 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:170699464G>A ENST00000367760.3 + 4 1731 c.646G>A c.(646-648)Gga>Aga p.G216R PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000239461.6_Intron NM_006902.3 NP_008833.1 P54821 PRRX1_HUMAN paired related homeobox 1 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTTCATAACGGATTCTAACG 0.453000 169 958 0 0 1 0 0 NUDT14 256281 broad.mit.edu 37 14 105639421 105639421 + Silent SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:105639421G>A ENST00000392568.2 - 5 699 c.606C>T c.(604-606)ctC>ctT p.L202L RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR NM_177533.4 NP_803877.2 O95848 NUD14_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 14 202 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) AGATGACGCCGAGGGTCTTGG 0.632000 HNSCC(42;0.11) 32 262 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36182091 36182091 + Missense_Mutation SNP C C T rs148223802 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:36182091C>T ENST00000357641.6 + 8 3170 c.2917C>T c.(2917-2919)Cgg>Tgg p.R973W BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R973W|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534694.1_Intron NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 973 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding p.R973W(1) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GCGCCACTCCCGGAAGCGGCC 0.617000 36 251 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 12 687 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18753360 18753360 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr9:18753360G>A ENST00000380548.4 + 16 2410 c.2071G>A c.(2071-2073)Gtc>Atc p.V691I NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 691 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GACCAGAGACGTCTTCTGCAG 0.532000 4 135 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 24 104 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164985 26164985 + Missense_Mutation SNP G G T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:26164985G>T ENST00000335473.7 + 4 1352 c.1102G>T c.(1102-1104)Gat>Tat p.D368Y MYO18B_ENST00000407587.2_Missense_Mutation_p.D368Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.D368Y NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 368 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity p.D368N(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GTTGGGGGACGATCTGAGAAT 0.552000 4 78 1 1 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 10 560 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18882786 18882786 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:18882786C>A ENST00000446231.2 - 16 2614 c.2202G>T c.(2200-2202)tgG>tgT p.W734C SMG1_ENST00000389467.3_Missense_Mutation_p.W734C Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 734 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CTTCCAAAGCCCAAGTCATTA 0.338000 6 137 2.0095e-06 2.22792e-06 1 1 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 7 306 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135428344 135428344 + Missense_Mutation SNP C C G rs138190399 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:135428344C>G ENST00000394143.1 + 6 2770 c.2479C>G c.(2479-2481)Cca>Gca p.P827A GPR112_ENST00000370652.1_Missense_Mutation_p.P827A|GPR112_ENST00000412101.1_Missense_Mutation_p.P622A|GPR112_ENST00000287534.4_Missense_Mutation_p.P764A|GPR112_ENST00000394141.1_Missense_Mutation_p.P622A NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 827 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GACCCCTGTACCAAAGTCAGC 0.388000 7 345 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100791108 100791108 + Missense_Mutation SNP T T C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:100791108T>C ENST00000358544.2 + 42 7814 c.7703T>C c.(7702-7704)gTg>gCg p.V2568A VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.V2543A NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2568 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAAAGTGTGGTGAAACCCTTC 0.448000 10 665 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111503593 111503593 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:111503593C>T ENST00000428084.1 - 23 2580 c.2308G>A c.(2308-2310)Gtg>Atg p.V770M DOCK4_ENST00000437633.1_Missense_Mutation_p.V770M|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 770 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding p.V758M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TCTGAGTACACGGCAGGGAAA 0.478000 12 104 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 9 667 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113803461 113803461 + Missense_Mutation SNP G G A rs143715673 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr13:113803461G>A ENST00000375559.3 + 8 1135 c.1097G>A c.(1096-1098)cGc>cAc p.R366H F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 366 Peptidase S1. R -> C (in FA10D; San Antonio). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCTTCGGGCGCACCCACGAG 0.647000 5 220 0 0 1 0 0 COPE 11316 broad.mit.edu 37 19 19016396 19016396 + Silent SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:19016396C>A ENST00000600932.1 - 6 586 c.555G>T c.(553-555)ctG>ctT p.L185L COPE_ENST00000598969.1_5'UTR|COPE_ENST00000262812.4_Silent_p.L162L|COPE_ENST00000351079.4_Silent_p.L111L|COPE_ENST00000349893.4_Silent_p.L162L O14579 COPE_HUMAN coatomer protein complex, subunit epsilon 162 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol binding|structural molecule activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 11 GGGCGAGGTCCAGGCGGTCCA 0.682000 4 101 1 1 1 1 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 5 228 0 0 1 0 0 CYB5R3 1727 broad.mit.edu 37 22 43032758 43032758 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:43032758G>A ENST00000361740.4 - 2 214 c.215C>T c.(214-216)cCg>cTg p.P72L CYB5R3_ENST00000396303.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000402438.1_Missense_Mutation_p.P16L|CYB5R3_ENST00000407623.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000407332.1_Missense_Mutation_p.P16L|CYB5R3_ENST00000352397.5_Missense_Mutation_p.P39L NM_001171660.1 NP_001165131.1 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 39 FAD-binding FR-type. blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane cytochrome-b5 reductase activity kidney(2)|large_intestine(1)|lung(2)|skin(1) 6 NADH(DB00157) CTTGATGTCCGGGCTCTCGAG 0.617000 30 137 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 6 314 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 9 232 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1688592 1688594 + In_Frame_Del DEL AGG AGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:1688592_1688594delAGG ENST00000344463.4 - 6 952_954 c.731_733delCCT c.(730-735)ggg>g p.AW244del NADK_ENST00000492768.1_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000378625.1_In_Frame_Del_p.AW244del|NADK_ENST00000341991.3_Intron O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) TGTGCACCCCAGGCCCCCTTCCC 0.626 17 134 --- --- --- --- PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|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) 31 691 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 18 1498 --- --- --- --- TNFRSF9 3604 broad.mit.edu 37 1 7980912 7980914 + In_Frame_Del DEL CTT CTT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:7980912_7980914delCTT ENST00000377507.3 - 8 915_917 c.749_751delAAG c.(748-753)gga>g p.EG250del NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 250 Interaction with LRR-1. E -> G (in a colorectal cancer sample; somatic mutation). induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.E250G(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) TCACATCCTCCTTCTTCTTCTTC 0.379 7 967 --- --- --- --- CLSTN1 22883 broad.mit.edu 37 1 9790640 9790642 + In_Frame_Del DEL CCT CCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:9790640_9790642delCCT ENST00000377298.4 - 19 3662_3664 c.2870_2872delAGG c.(2869-2874)ggg>g p.EG957del CLSTN1_ENST00000377288.3_In_Frame_Del_p.EG938del|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_In_Frame_Del_p.EG947del 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 8 473 --- --- --- --- DHRS3 9249 broad.mit.edu 37 1 12632790 12632792 + In_Frame_Del DEL GGA GGA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:12632790_12632792delGGA ENST00000376223.2 - 5 1171_1173 c.788_790delTCC c.(787-792)cca>c p.LP263del NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 263 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) ATTGTCCATGGGAGGAGGAGGAG 0.552 8 130 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 9 1195 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 23 476 --- --- --- --- MYOM3 127294 broad.mit.edu 37 1 24394742 24394742 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:24394742delT ENST00000330966.7 - 26 3431 c.3269delA c.(3268-3270)acfs p.N1090fs MYOM3_ENST00000374434.3_Frame_Shift_Del_p.N1089fs|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Frame_Shift_Del_p.N1089fs|RP11-293P20.4_ENST00000429191.1_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1089 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGTAATCTGGTTTTTGGCTTT 0.602 8 1997 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 10 407 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 24 1584 --- --- --- --- DLGAP3 58512 broad.mit.edu 37 1 35365852 35365852 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:35365852delC ENST00000373347.1 - 4 1398 c.1130delG c.(1129-1131)gtfs p.G377fs DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G377fs O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 377 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GGTGGGGTAACCCCCCCAGTC 0.602 9 852 --- --- --- --- ZMYM6 9204 broad.mit.edu 37 1 35485090 35485090 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:35485090delT ENST00000357182.4 - 4 519 c.292delA c.(292-294)tgfs p.M98fs ZMYM6_ENST00000317538.5_Frame_Shift_Del_p.M98fs|ZMYM6_ENST00000373340.2_Frame_Shift_Del_p.M98fs|ZMYM6_ENST00000487874.1_Frame_Shift_Del_p.M98fs|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Frame_Shift_Del_p.M98fs NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 98 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) TTATAAAGCATTTTTTTACAA 0.453 7 551 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39788668 39788670 + In_Frame_Del DEL GGA GGA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:39788668_39788670delGGA ENST00000564288.1 + 33 5001_5003 c.4224_4226delGGA c.(4222-4227)ctg>ct p.LE1408del MACF1_ENST00000361689.2_In_Frame_Del_p.LE1413del|MACF1_ENST00000372915.3_In_Frame_Del_p.LE1413del|MACF1_ENST00000317713.7_In_Frame_Del_p.LE1413del|MACF1_ENST00000545844.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000539005.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_In_Frame_Del_p.LE1445del Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1413 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCCGGCGTCTGGAGGAGGAGGAG 0.493 9 848 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 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) CCTCTTAGAGTCTCTCTCTCTC 0.406 18 1385 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 11 380 --- --- --- --- NDC1 55706 broad.mit.edu 37 1 54298190 54298192 + In_Frame_Del DEL TTA TTA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:54298190_54298192delTTA ENST00000371429.3 - 3 849_851 c.251_253delTAA c.(250-255)agt>a p.IS84del NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000480952.1_5'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin TTGAAAATACTTATTATTATTAT 0.305 13 407 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 12 1478 --- --- --- --- LPAR3 23566 broad.mit.edu 37 1 85331764 85331764 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:85331764delA ENST00000440886.1 - 1 78 c.40delT c.(40-42)atfs p.Y14fs LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Frame_Shift_Del_p.Y14fs Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 14 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 CTCCTATTATAAAAAAAGTCC 0.338 7 776 --- --- --- --- GBP3 2635 broad.mit.edu 37 1 89473441 89473442 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:89473441_89473442insT ENST00000370481.4 - 11 1973_1974 c.1753_1754insA c.(1753-1755)caafs p.Q585fs NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 585 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) ATATCTCTTGGTTTTTTTTTTC 0.371 52 823 --- --- --- --- BRDT 676 broad.mit.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:92447228_92447230delAGC ENST00000370389.2 + 12 2623_2625 c.1699_1701delAGC c.(1699-1701)del p.S575del BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|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 9 574 --- --- --- --- AKNAD1 254268 broad.mit.edu 37 1 109369904 109369904 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:109369904delT ENST00000370001.3 - 11 2127 c.1859delA c.(1858-1860)agfs p.K620fs AKNAD1_ENST00000369995.3_Frame_Shift_Del_p.K620fs|AKNAD1_ENST00000369994.1_Frame_Shift_Del_p.K590fs|AKNAD1_ENST00000357393.4_Frame_Shift_Del_p.K327fs NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 620 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TCCGTGGCCCTTTTTCTCCAC 0.413 7 1066 --- --- --- --- STRIP1 85369 broad.mit.edu 37 1 110591816 110591818 + In_Frame_Del DEL CTG CTG - rs41281358 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:110591816_110591818delCTG ENST00000369795.3 + 16 1766_1768 c.1744_1746delCTG c.(1744-1746)del p.L586del STRIP1_ENST00000369796.1_In_Frame_Del_p.L491del NM_033088.2 NP_149079.2 striatin interacting protein 1 TTCTGCTGTCCTGCTGCTGCTGC 0.547 8 425 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 8 360 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 14 463 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR 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 13 609 --- --- --- --- POLR3GL 84265 broad.mit.edu 37 1 145457040 145457042 + In_Frame_Del DEL TCT TCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 7 147 --- --- --- --- PRPF3 9129 broad.mit.edu 37 1 150307605 150307605 + Frame_Shift_Del DEL T T - rs34541287 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:150307605delT ENST00000324862.6 + 7 1093 c.928delT c.(928-930)ttfs p.F311fs PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_Frame_Shift_Del_p.F176fs|PRPF3_ENST00000414970.2_Frame_Shift_Del_p.F262fs NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 311 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) ATCCAATACCTTTTTTGACCC 0.463 7 421 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 23 962 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152083818 152083820 + In_Frame_Del DEL CGG CGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 8 697 --- --- --- --- LCE4A 199834 broad.mit.edu 37 1 152681693 152681698 + In_Frame_Del DEL TGTGGT TGTGGT - rs74871420 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:152681693_152681698delTGTGGT ENST00000368777.1 + 2 398_403 c.142_147delTGTGGT c.(142-147)del p.CG48del LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del Q5TA78 LCE4A_HUMAN late cornified envelope 4A 48 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) CTCTGGGGGCTGTGGTTGCTGCAGCT 0.578 12 1048 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:154680586_154680588delGCT ENST00000271915.3 - 8 2375_2377 c.2060_2062delAGC c.(2059-2064)ctc>c p.QL687del KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000515643.1_5'UTR NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 692 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.640 15 700 --- --- --- --- PBXIP1 57326 broad.mit.edu 37 1 154917508 154917510 + In_Frame_Del DEL GGT GGT - rs143592003 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:154917508_154917510delGGT ENST00000368463.3 - 11 2257_2259 c.2186_2188delACC c.(2185-2190)cgg>c p.HR729del PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del|PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 729 His-rich. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTCAGCCCCGGTGGTGGTGGTG 0.640 10 538 --- --- --- --- SHC1 6464 broad.mit.edu 37 1 154942911 154942911 + Frame_Shift_Del DEL G G - rs115641580 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:154942911delG ENST00000448116.2 - 1 312 c.92delC c.(91-93)cgfs p.P31fs SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368445.5_Frame_Shift_Del_p.P31fs NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 31 activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity p.E32fs*23(2) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CAGCTCCTCCGGGGGGGTGGA 0.622 8 469 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155450526 155450527 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:155450526_155450527insT ENST00000368346.3 - 3 2773_2774 c.2134_2135insA c.(2134-2136)aaafs p.K712fs ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K712fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 712 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCTTCCTTTTCTTTTTTTTAAT 0.401 7 463 --- --- --- --- NES 10763 broad.mit.edu 37 1 156640235 156640235 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:156640235delC ENST00000368223.3 - 4 3877 c.3745delG c.(3745-3747)tgfs p.V1249fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1249 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) CTCCCCTGCACCCCCCAGCTA 0.662 9 1392 --- --- --- --- RP11-404F10.2 0 broad.mit.edu 37 1 160640798 160640798 + RNA DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:160640798delT ENST00000598917.1 + 0 231 TTCTGAACAATTTTTTTTTTA 0.428 8 105 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161059028 161059030 + In_Frame_Del DEL AGC AGC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 14 1103 --- --- --- --- USP21 27005 broad.mit.edu 37 1 161134660 161134660 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:161134660delA ENST00000368002.3 + 12 1797 c.1420delA c.(1420-1422)aafs p.K475fs USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Frame_Shift_Del_p.K475fs|USP21_ENST00000368001.1_Frame_Shift_Del_p.K475fs NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 475 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGGCTCCATCAAAAAAAGTTC 0.517 7 668 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 15 896 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 14 366 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 8 1451 --- --- --- --- SLC9C2 284525 broad.mit.edu 37 1 173552688 173552688 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:173552688delA ENST00000367714.3 - 6 1019 c.597delT c.(595-597)ttfs p.F199fs SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 199 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity GAAAATTTCCAAAAAAAATTG 0.279 7 696 --- --- --- --- TNR 7143 broad.mit.edu 37 1 175372615 175372615 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:175372615delC ENST00000367674.1 - 4 1345 c.637delG c.(637-639)tgfs p.V213fs TNR_ENST00000263525.2_Frame_Shift_Del_p.V213fs NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 213 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCCACACACACCCCCCGGCTG 0.607 9 1477 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186273952 186273954 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:186273952_186273954delTCC ENST00000445192.2 + 6 541_543 c.496_498delTCC c.(496-498)del p.S177del PRG4_ENST00000367483.4_In_Frame_Del_p.S136del|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367484.3_In_Frame_Del_p.S136del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 177 Ser-rich. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 AAATCAAGAGtcctcctcctcct 0.355 9 332 --- --- --- --- CAMSAP2 23271 broad.mit.edu 37 1 200822549 200822549 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:200822549delA ENST00000358823.2 + 13 4019 c.3749delA c.(3748-3750)cafs p.Q1250fs CAMSAP2_ENST00000236925.4_Frame_Shift_Del_p.Q1261fs|CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.Q1234fs NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 1261 cytoplasm|microtubule protein binding GTAGTAAAACAAAAAAAACAG 0.368 11 508 --- --- --- --- GPR37L1 9283 broad.mit.edu 37 1 202097525 202097527 + In_Frame_Del DEL CTG CTG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:202097525_202097527delCTG ENST00000367282.4 + 2 1393_1395 c.1287_1289delCTG c.(1285-1290)gac>ga p.DC429del NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 429 Cys-rich. integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CCTTCCTGGActgctgctgctgc 0.626 14 200 --- --- --- --- KDM5B 10765 broad.mit.edu 37 1 202704625 202704625 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:202704625delT ENST00000367265.3 - 22 4519 c.3355delA c.(3355-3357)gcfs p.S1119fs KDM5B_ENST00000367264.2_Frame_Shift_Del_p.S1155fs NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1119 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 AATTTGGTGCTTTTTTTCTTT 0.428 7 669 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000469606.1_5'UTR NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 15 1442 --- --- --- --- PCNXL2 80003 broad.mit.edu 37 1 233161072 233161074 + In_Frame_Del DEL GCA GCA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:233161072_233161074delGCA ENST00000258229.8 - 26 4657_4659 c.4423_4425delTGC c.(4423-4425)del p.C1475del PCNXL2_ENST00000344698.2_In_Frame_Del_p.C127del NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1475 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GGCCTGGTTTGCAGCAGCAGCAG 0.591 OREG0014326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 912 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 17 567 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 40 716 --- --- --- --- PUM2 23369 broad.mit.edu 37 2 20482977 20482979 + In_Frame_Del DEL GCT GCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:20482977_20482979delGCT ENST00000361078.2 - 11 1471_1473 c.1449_1451delAGC c.(1447-1452)gct>gc p.AA483del PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 483 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTCCTCCAGCTGCTGCTGCTG 0.424 12 657 --- --- --- --- KIF3C 3797 broad.mit.edu 37 2 26203464 26203466 + In_Frame_Del DEL GTT GTT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 8 980 --- --- --- --- GPR113 165082 broad.mit.edu 37 2 26534413 26534413 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:26534413delC ENST00000333478.6 - 8 2168 c.1586delG c.(1585-1587)gtfs p.G529fs GPR113_ENST00000421160.2_Frame_Shift_Del_p.G659fs|GPR113_ENST00000311519.1_Frame_Shift_Del_p.G728fs|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Frame_Shift_Del_p.G331fs NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 728 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.G529fs*46(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTGGACCAACCCCCCCTGCC 0.612 10 884 --- --- --- --- IFT172 26160 broad.mit.edu 37 2 27676932 27676932 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:27676932delC ENST00000260570.3 - 33 3731 c.3628delG c.(3628-3630)ccfs p.A1210fs NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1210 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TCCTCCAAGGCCCCCCGGGCC 0.607 7 1049 --- --- --- --- STRN 6801 broad.mit.edu 37 2 37113870 37113870 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:37113870delT ENST00000263918.4 - 8 1039 c.1031delA c.(1030-1032)agfs p.K344fs STRN_ENST00000379213.2_Intron NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 344 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) CTTCACCCCCTTTTTCCCCTT 0.388 7 928 --- --- --- --- CEBPZ 10153 broad.mit.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:37454908delT ENST00000234170.5 - 2 1573 c.1428delA c.(1426-1428)aafs p.K476fs NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 476 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) ATTCAACATCTTTTTTTTTGA 0.368 9 258 --- --- --- --- GPR75 10936 broad.mit.edu 37 2 54080658 54080658 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:54080658delT ENST00000394705.2 - 2 1506 c.1236delA c.(1234-1236)aafs p.K412fs GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 412 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CGAGGTTCCCTTTTCCCATGG 0.468 7 1268 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 11 22 --- --- --- --- TEKT4 150483 broad.mit.edu 37 2 95539829 95539830 + Frame_Shift_Ins INS - - G rs149873671 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:95539829_95539830insG ENST00000295201.4 + 3 826_827 c.689_690insG c.(688-690)ctafs p.L230fs AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 230 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.P230P(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CAGGCTCATCCGTACTCCACCA 0.663 7 587 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 13 464 --- --- --- --- REV1 51455 broad.mit.edu 37 2 100055102 100055102 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:100055102delT ENST00000258428.3 - 6 1402 c.1174delA c.(1174-1176)tgfs p.M392fs REV1_ENST00000393445.3_Frame_Shift_Del_p.M392fs|REV1_ENST00000465835.1_5'UTR 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 12 794 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128046944 128046946 + In_Frame_Del DEL TCT TCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:128046944_128046946delTCT ENST00000493187.2 - 6 1060_1062 c.597_599delAGA c.(595-600)gag>ga p.EE199del ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 263 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTCTGTGTCTCTTCTTCTTCTT 0.473 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 9 431 --- --- --- --- ERMN 57471 broad.mit.edu 37 2 158178062 158178064 + In_Frame_Del DEL ATC ATC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:158178062_158178064delATC ENST00000410096.1 - 3 865_867 c.574_576delGAT c.(574-576)del p.D192del ERMN_ENST00000420719.2_In_Frame_Del_p.D172del|ERMN_ENST00000535935.1_In_Frame_Del_p.D86del|ERMN_ENST00000397283.2_In_Frame_Del_p.D205del 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 7 834 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:187521084_187521085insG ENST00000261023.3 + 17 1949_1950 c.1675_1676insG c.(1675-1677)gggfs p.G559fs ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 7 1576 --- --- --- --- KANSL1L 151050 broad.mit.edu 37 2 210887680 210887680 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 8 252 --- --- --- --- SP100 6672 broad.mit.edu 37 2 231379990 231379990 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:231379990delA ENST00000264052.5 + 25 2630 c.2275delA c.(2275-2277)aafs p.K762fs SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 762 Poly-Lys. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TAAAGGGGAGAAAAAAAAGAA 0.418 7 541 --- --- --- --- SRGAP3 9901 broad.mit.edu 37 3 9027284 9027286 + In_Frame_Del DEL GCT GCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 8 226 --- --- --- --- TAMM41 132001 broad.mit.edu 37 3 11880699 11880699 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:11880699delT ENST00000444133.2 - 3 550 c.408delA c.(406-408)aafs p.K136fs TAMM41_ENST00000273037.5_Frame_Shift_Del_p.K136fs|TAMM41_ENST00000455809.1_Frame_Shift_Del_p.K136fs Q96BW9 MMP37_HUMAN TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) 136 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane caCTCACCGGTTTTTGGAGTC 0.398 9 571 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38162039 38162040 + Frame_Shift_Del DEL GA GA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:38162039_38162040delGA ENST00000308059.6 + 34 4826_4827 c.4805_4806delGA c.(4804-4806)gfs p.G1602fs DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs|DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1602 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGTGCGAGTGGAGAGAGAGAGA 0.579 7 599 --- --- --- --- XYLB 9942 broad.mit.edu 37 3 38437011 38437011 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:38437011delT ENST00000207870.3 + 16 1397 c.1307delT c.(1306-1308)atfs p.I436fs XYLB_ENST00000472721.1_3'UTR|XYLB_ENST00000542835.1_Frame_Shift_Del_p.I299fs NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 436 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) AAGACAAAGATTTTGGCCACA 0.438 7 460 --- --- --- --- HHATL 57467 broad.mit.edu 37 3 42739670 42739672 + In_Frame_Del DEL GAA GAA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 9 781 --- --- --- --- CCR3 1232 broad.mit.edu 37 3 46306948 46306948 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:46306948delT ENST00000357422.2 + 4 842 c.299delT c.(298-300)gtfs p.V100fs CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs 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 2123 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53785830 53785830 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:53785830delA ENST00000288139.3 + 29 3749 c.3631delA c.(3631-3633)aafs p.K1211fs CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.K1191fs|CACNA1D_ENST00000540742.1_Frame_Shift_Del_p.K98fs|CACNA1D_ENST00000350061.5_Frame_Shift_Del_p.K1191fs NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1191 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ATACATCCCCAAAAACCCCTA 0.498 7 1459 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 27 1974 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99568273 99568273 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:99568273delT ENST00000331335.5 - 5 2717 c.2247delA c.(2245-2247)aafs p.K749fs FILIP1L_ENST00000354552.3_Frame_Shift_Del_p.K749fs|FILIP1L_ENST00000383694.2_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000471562.1_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000487087.1_Frame_Shift_Del_p.K325fs|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 749 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 GTTGATTTAGTTTTTTTTGCA 0.403 10 868 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 13 1848 --- --- --- --- ATG3 64422 broad.mit.edu 37 3 112277266 112277267 + Splice_Site INS - - A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:112277266_112277267insA ENST00000402314.2 - 2 460 c.e2-2 ATG3_ENST00000495756.1_Splice_Site|ATG3_ENST00000283290.5_Splice_Site Q9NT62 ATG3_HUMAN autophagy related 3 autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination cytoplasmic ubiquitin ligase complex|cytosol Atg12 ligase activity|Atg8 ligase activity|enzyme binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3) 9 CTTTGATTCCTAAAAAAAGCAG 0.327 7 858 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:113380090delT ENST00000316407.4 - 7 849 c.439delA c.(439-441)ttfs p.I148fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 148 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAAACAATAATTTTTTTTTGA 0.373 17 689 --- --- --- --- GOLGB1 2804 broad.mit.edu 37 3 121409851 121409852 + Frame_Shift_Del DEL TC TC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:121409851_121409852delTC ENST00000393667.3 - 14 8469_8470 c.8359_8360delGA c.(8359-8361)tfs p.D2787fs GOLGB1_ENST00000340645.5_Frame_Shift_Del_p.D2782fs NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2782 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) AAGAAGAGCATCTCTCTCTCTG 0.421 7 533 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 12 379 --- --- --- --- FAM194A 131831 broad.mit.edu 37 3 150421591 150421593 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 10 149 --- --- --- --- FXR1 0 broad.mit.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:180666228delA ENST00000357559.4 + 5 748 c.364delA c.(364-366)aafs p.K123fs FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 123 apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.N124fs*14(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAAAACTGTCAAAAAAAATAC 0.333 10 472 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 15 41 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 9 49 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3430398 3430399 + Frame_Shift_Ins INS - - A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:3430398_3430399insA ENST00000336727.3 + 16 4429_4430 c.3525_3526insA c.(3523-3528)ggaaaafs p.GK1175fs RGS12_ENST00000306648.7_Intron|RGS12_ENST00000338806.4_Frame_Shift_Ins_p.GK527fs|RGS12_ENST00000344733.5_Frame_Shift_Ins_p.GK1175fs|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000382788.3_Frame_Shift_Ins_p.GK1175fs 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 14 464 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 19 606 --- --- --- --- SEL1L3 23231 broad.mit.edu 37 4 25849258 25849258 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:25849258delT ENST00000399878.3 - 2 513 c.391delA c.(391-393)ggfs p.R131fs SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.R96fs|SEL1L3_ENST00000502949.1_5'UTR|SEL1L3_ENST00000513364.1_Intron NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 131 integral to membrane binding p.R131fs*15(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TTCTTCCACCTTTTTTTGTAC 0.383 7 550 --- --- --- --- LIAS 11019 broad.mit.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:39462464delA ENST00000261434.3 + 2 218 c.100delA c.(100-102)aafs p.K36fs LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 36 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding p.K36fs*31(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) CTTGCCAGATAAAAAAAAGGA 0.393 10 866 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 760 Gln-rich. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) cctgggagctctgctgctgctgc 0.512 15 329 --- --- --- --- YTHDC1 91746 broad.mit.edu 37 4 69202891 69202893 + In_Frame_Del DEL TCC TCC - rs141105019 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 13 368 --- --- --- --- SULT1B1 27284 broad.mit.edu 37 4 70599153 70599153 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:70599153delA ENST00000310613.2 - 6 872 c.575delT c.(574-576)tgfs p.L192fs NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 192 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 TTCATAGTACAAAAAAAGTAT 0.348 8 1135 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 15 357 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_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) 13 260 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85611708 85611709 + Frame_Shift_Del DEL CA CA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:85611708_85611709delCA ENST00000322366.6 - 60 9669_9670 c.9262_9263delTG c.(9262-9264)gfs p.W3088fs WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3105 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCCATCTCCCACACACACACA 0.510 7 690 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90844391 90844393 + In_Frame_Del DEL AGC AGC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:90844391_90844393delAGC ENST00000394980.1 + 5 1242_1244 c.923_925delAGC c.(922-927)gag>g p.EQ308del MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del Q13201 MMRN1_HUMAN multimerin 1 308 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GGAGTAGCTGAGCAGCAGCAGCA 0.448 14 2041 --- --- --- --- SLC39A8 64116 broad.mit.edu 37 4 103189225 103189225 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:103189225delT ENST00000424970.2 - 7 1167 c.852delA c.(850-852)aafs p.K284fs SLC39A8_ENST00000356736.4_Frame_Shift_Del_p.K284fs|SLC39A8_ENST00000394833.2_Frame_Shift_Del_p.K284fs NM_001135147.1 NP_001128619.1 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), member 8 284 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) AACTTGGCTCTTTTTTTCCAT 0.413 7 581 --- --- --- --- HHIP 64399 broad.mit.edu 37 4 145567851 145567853 + In_Frame_Del DEL GCT GCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:145567851_145567853delGCT ENST00000296575.3 + 1 679_681 c.24_26delGCT c.(22-27)aag>aa p.KL8del HHIP_ENST00000434550.2_In_Frame_Del_p.KL8del|HHIP-AS1_ENST00000512359.1_RNA NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 8 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TCTCCTTTAAGCTGCTGCTGCTG 0.621 OREG0016346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 606 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 16 646 --- --- --- --- FAM198B 51313 broad.mit.edu 37 4 159091487 159091489 + In_Frame_Del DEL GCT GCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:159091487_159091489delGCT ENST00000393807.5 - 3 1327_1329 c.921_923delAGC c.(919-924)gcg>gc p.AA307del FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000592057.1_3'UTR NM_001031700.2 NP_001026870.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 307 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 GGAAAGACACGCTGCTGCTGCTG 0.458 16 292 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_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 8 580 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 12 427 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAACTGGCGTCCTCCTCCTCCT 0.527 9 905 --- --- --- --- SPEF2 79925 broad.mit.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr5:35705894delA ENST00000440995.2 + 18 2634 c.2634delA c.(2632-2634)gcfs p.A878fs SPEF2_ENST00000509059.1_Frame_Shift_Del_p.A878fs|SPEF2_ENST00000356031.3_Frame_Shift_Del_p.A883fs|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 883 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.K886fs*8(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGAAATAGCAAAAAAAAAGA 0.269 7 178 --- --- --- --- LMNB1 4001 broad.mit.edu 37 5 126168434 126168436 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr5:126168434_126168436delGAG ENST00000261366.5 + 10 2021_2023 c.1660_1662delGAG c.(1660-1662)del p.E559del LMNB1_ENST00000460265.1_3'UTR NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 559 Glu-rich (highly acidic; could be involved in chromatin binding).|Tail. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) ACCTGAAGAAGAGGAGGAGGAGG 0.330 7 965 --- --- --- --- MEGF10 84466 broad.mit.edu 37 5 126792989 126792991 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr5:126792989_126792991delCAG ENST00000274473.6 + 26 3669_3671 c.3402_3404delCAG c.(3400-3405)aac>aa p.NS1134del MEGF10_ENST00000503335.2_In_Frame_Del_p.NS1134del NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1134 Necessary for formation of large intracellular vacuoles.|Ser-rich. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) gcagcagcaacagcagcagcagc 0.512 7 424 --- --- --- --- AFF4 27125 broad.mit.edu 37 5 132270259 132270259 + Frame_Shift_Del DEL T T - rs35626495 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr5:132270259delT ENST00000265343.5 - 3 877 c.498delA c.(496-498)aafs p.K166fs AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs|AFF4_ENST00000491831.1_5'UTR NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 166 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATGCTGGCCTTTTTTCCGGC 0.512 7 1157 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137803132 137803132 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr5:137803132delC ENST00000239938.4 + 2 1266 c.994delC c.(994-996)ccfs p.P333fs NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 333 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CAGCAAGACGCCCCCCCACGA 0.652 7 1006 --- --- --- --- PCDHA9 0 broad.mit.edu 37 5 140230589 140230590 + Frame_Shift_Ins INS - - T rs17844337 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr5:140230589_140230590insT ENST00000378122.3 + 1 3233_3234 c.2509_2510insT c.(2509-2511)tttfs p.F837fs PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATCCAGCAGATTTTTTTTCTG 0.282 7 1411 --- --- --- --- UNC5A 90249 broad.mit.edu 37 5 176301302 176301304 + In_Frame_Del DEL CAC CAC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr5:176301302_176301304delCAC ENST00000329542.4 + 8 1387_1389 c.1113_1115delCAC c.(1111-1116)agc>ag p.ST371del UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 371 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGACCTCAGCACCACCACCACC 0.645 7 773 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 9 40 --- --- --- --- JARID2 3720 broad.mit.edu 37 6 15501164 15501164 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:15501164delT ENST00000341776.2 + 8 2216 c.1972delT c.(1972-1974)ttfs p.F659fs JARID2_ENST00000541660.1_Frame_Shift_Del_p.F621fs|JARID2_ENST00000397311.3_Frame_Shift_Del_p.F487fs NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 659 ARID. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CCTGGCCTGCTTTTTCCGGCT 0.517 8 1165 --- --- --- --- GABBR1 0 broad.mit.edu 37 6 29573436 29573438 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:29573436_29573438delCAG ENST00000377034.4 - 20 2682_2684 c.2347_2349delCTG c.(2347-2349)del p.L783del GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 783 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.L783M(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGAAGATTCCCAGCAGCAGCAGC 0.512 8 549 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30572794 30572795 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:30572794_30572795insT ENST00000376511.2 - 11 1482_1483 c.930_931insA c.(928-933)aatactfs p.NT310fs NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 310 Interaction with TOX4 (By similarity).|Poly-Lys. 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 GGTGACAGTACTTTTTTTTTCT 0.446 10 309 --- --- --- --- CDSN 1041 broad.mit.edu 37 6 31084964 31084966 + In_Frame_Del DEL TTT TTT - rs3130984 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:31084964_31084966delTTT ENST00000376288.2 - 2 452_454 c.426_428delAAA c.(424-429)ggc>gg p.GN142del PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 142 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 AGAGCCGCTGTTTCCCGAGTGAG 0.586 11 240 --- --- --- --- EHMT2 10919 broad.mit.edu 37 6 31857309 31857311 + In_Frame_Del DEL TCT TCT - rs138941874 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:31857309_31857311delTCT ENST00000395728.3 - 7 1103_1105 c.1104_1106delAGA c.(1102-1107)gag>ga p.EE378del EHMT2_ENST00000375528.4_In_Frame_Del_p.EE378del|EHMT2_ENST00000375537.4_In_Frame_Del_p.EE321del|EHMT2_ENST00000375530.4_In_Frame_Del_p.EE321del|EHMT2_ENST00000480912.1_5'UTR Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 321 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 ctcctcttcctcttcttcttctt 0.493 7 514 --- --- --- --- RING1 6015 broad.mit.edu 37 6 33178989 33178990 + Frame_Shift_Ins INS - - G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:33178989_33178990insG ENST00000374656.4 + 5 718_719 c.510_511insG c.(508-513)agggggfs p.RG170fs RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 170 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 CAACGATGAGTGGGGGGGAAGG 0.619 8 1113 --- --- --- --- TULP1 7287 broad.mit.edu 37 6 35478775 35478777 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:35478775_35478777delTCC ENST00000229771.6 - 5 439_441 c.360_362delGGA c.(358-363)gaa>ga p.EE122del TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 122 Poly-Glu. Missing (in RP14). dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 gtcctcctcttcctcctcctcct 0.567 11 552 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 53 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTCAGAGACCCCCCCCGCA 0.428 8 469 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 16 232 --- --- --- --- AARS2 57505 broad.mit.edu 37 6 44269193 44269193 + Frame_Shift_Del DEL C C - rs498512 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:44269193delC ENST00000244571.4 - 20 2609 c.2607delG c.(2605-2607)aafs p.K870fs TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 870 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CCTGAGTTTTCTTTGCAGCCT 0.572 7 760 --- --- --- --- ZBTB24 9841 broad.mit.edu 37 6 109802729 109802729 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:109802729delT ENST00000230122.3 - 2 668 c.501delA c.(499-501)aafs p.K167fs NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) ATGTATTGACTTTTTTTGGTC 0.418 13 1465 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 7 570 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 Asp/Glu-rich (acidic). 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) CCCGCCCGCGGACGACGACGACG 0.650 14 739 --- --- --- --- MAP3K4 4216 broad.mit.edu 37 6 161469776 161469776 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:161469776delA ENST00000392142.4 + 3 620 c.472delA c.(472-474)aafs p.K159fs MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.K159fs NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 159 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.N160fs*8(2) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GCGTGATCGTAAAAAAAATGT 0.403 10 743 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2963941 2963943 + In_Frame_Del DEL GGA GGA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:2963941_2963943delGGA ENST00000396946.4 - 15 2267_2269 c.1864_1866delTCC c.(1864-1866)del p.S622del NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 622 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGATTGGTGGGAGGAGGAGGAG 0.616 Mis DLBCL 7 493 --- --- --- --- PHF14 9678 broad.mit.edu 37 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:11075380_11075381delAG ENST00000403050.3 + 8 2021_2022 c.1569_1570delAG c.(1567-1572)caagfs p.QE523fs PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 523 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TGTCTTTGCAAGAGAGAGAGAA 0.376 12 1413 --- --- --- --- AHR 196 broad.mit.edu 37 7 17379385 17379385 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:17379385delC ENST00000242057.4 + 10 2579 c.1936delC c.(1936-1938)aafs p.Q646fs NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 646 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) GAAGCACATGCAAGTTAATGG 0.418 8 839 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 390 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222461 27222462 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 13 755 --- --- --- --- AOAH 313 broad.mit.edu 37 7 36552949 36552949 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:36552949delT ENST00000431169.1 - 22 2056 c.1756delA c.(1756-1758)ggfs p.R586fs AOAH_ENST00000258749.5_Frame_Shift_Del_p.K546fs|AOAH_ENST00000538464.1_Frame_Shift_Del_p.K268fs|AOAH_ENST00000535891.1_Frame_Shift_Del_p.K514fs 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 7 434 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 23 945 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 8 49 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66770959 66770959 + RNA DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:66770959delT ENST00000416602.2 + 0 265 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) gtcATCTGTATTTTTTTTTTA 0.353 48 680 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72286070 72286071 + RNA INS - - A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:72286070_72286071insA ENST00000438125.1 - 0 234 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CCTAATAGGACAAAAAAAAACT 0.381 7 276 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 20 2174 --- --- --- --- RSBN1L 222194 broad.mit.edu 37 7 77326220 77326222 + In_Frame_Del DEL CCG CCG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 7 185 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77569581 77569581 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:77569581delT ENST00000416283.2 + 12 1726 c.1600delT c.(1600-1602)ttfs p.F535fs PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GTGGATTTTCTTTTTTTTGCT 0.303 8 819 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 10 311 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:91752494delT ENST00000003100.8 - 7 1191 c.1026delA c.(1024-1026)aafs p.K342fs LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 336 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTAAATAACATTTTTTTTGAA 0.398 8 1007 --- --- --- --- PTCD1 26024 broad.mit.edu 37 7 99032605 99032607 + In_Frame_Del DEL CTC CTC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:99032605_99032607delCTC ENST00000292478.4 - 2 509_511 c.259_261delGAG c.(259-261)del p.E87del PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_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 16 892 --- --- --- --- TRIM4 89122 broad.mit.edu 37 7 99506323 99506325 + In_Frame_Del DEL TCT TCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:99506323_99506325delTCT ENST00000355947.2 - 4 807_809 c.678_680delAGA c.(676-681)gag>ga p.EE226del TRIM4_ENST00000349062.2_In_Frame_Del_p.EE200del|TRIM4_ENST00000354241.5_In_Frame_Del_p.EE200del NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 226 protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) CTTCTTCGTCTCTTCTTCTTCTT 0.443 8 651 --- --- --- --- GPC2 221914 broad.mit.edu 37 7 99771554 99771554 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:99771554delC ENST00000292377.2 - 5 963 c.796delG c.(796-798)tcfs p.V266fs GPC2_ENST00000471050.1_5'UTR NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 266 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGTGAGGGGACCCCCCGGCAC 0.642 7 1186 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028452 100028454 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 10 1314 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 12 296 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:100479332delG ENST00000388793.4 + 4 524 c.304delG c.(304-306)ggfs p.G106fs SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 106 G -> GG (in Ref. 3; CAB46374). cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) 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 GCCCTATGCTGGGGGGGGTGG 0.607 7 372 --- --- --- --- PRKRIP1 79706 broad.mit.edu 37 7 102065517 102065519 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:102065517_102065519delGAG ENST00000496391.1 + 10 1824_1826 c.514_516delGAG c.(514-516)del p.E176del PRKRIP1_ENST00000462601.1_In_Frame_Del_p.E119del|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000397912.3_In_Frame_Del_p.E176del|PRKRIP1_ENST00000354783.4_In_Frame_Del_p.RG112del Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 176 Poly-Glu. nucleolus endometrium(1)|lung(4)|ovary(1) 6 ATCTGGAACAGAGGAGGAGGAGG 0.567 8 297 --- --- --- --- DNAJC2 27000 broad.mit.edu 37 7 102964992 102964992 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:102964992delT ENST00000379263.3 - 6 840 c.590delA c.(589-591)atfs p.N197fs PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.N197fs NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 197 ZRF1-UBD. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 TTTAGGAACATTTTTTTTATT 0.239 9 596 --- --- --- --- LAMB4 22798 broad.mit.edu 37 7 107763584 107763584 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:107763584delA ENST00000388781.3 - 2 109 c.26delT c.(25-27)tgfs p.L9fs LAMB4_ENST00000205386.4_Frame_Shift_Del_p.L9fs|LAMB4_ENST00000414450.2_Frame_Shift_Del_p.L9fs|LAMB4_ENST00000388780.3_Frame_Shift_Del_p.L9fs NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 9 cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 ACCAAGGTGCAAAAAAAGGGT 0.308 7 690 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del 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 8 378 --- --- --- --- EPHB6 0 broad.mit.edu 37 7 142561448 142561448 + Frame_Shift_Del DEL G G - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:142561448delG ENST00000392957.2 + 6 947 c.160delG c.(160-162)ggfs p.G55fs EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G55fs|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 55 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CTACCCACCAGGGGGGGTGAG 0.572 7 747 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151856009 151856009 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:151856009delT ENST00000355193.2 - 44 11827 c.11609delA c.(11608-11610)agfs p.K3870fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K3870fs lysine (K)-specific methyltransferase 2C CTCTTCGTCCTTTTTCCTTTT 0.458 8 1601 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccafs p.PT571fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 21 470 --- --- --- --- NOM1 64434 broad.mit.edu 37 7 156743209 156743211 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:156743209_156743211delGAG ENST00000275820.3 + 1 793_795 c.778_780delGAG c.(778-780)del p.E264del NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 264 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ggacgaaagtgaggaggaggagg 0.552 9 320 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 15 401 --- --- --- --- DMTN 2039 broad.mit.edu 37 8 21926552 21926552 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:21926552delC ENST00000358242.3 + 5 768 c.275delC c.(274-276)tcfs p.S92fs DMTN_ENST00000432128.1_Frame_Shift_Del_p.S92fs|DMTN_ENST00000415253.1_Frame_Shift_Del_p.S92fs|DMTN_ENST00000517600.1_Intron|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_ENST00000443491.2_Frame_Shift_Del_p.S67fs|DMTN_ENST00000523782.2_Frame_Shift_Del_p.S67fs|DMTN_ENST00000523266.1_Frame_Shift_Del_p.S92fs dematin actin binding protein AAATCCACATCCCCCCCACCA 0.602 7 905 --- --- --- --- PPP3CC 5533 broad.mit.edu 37 8 22385025 22385025 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:22385025delA ENST00000240139.5 + 9 1391 c.1064delA c.(1063-1065)gafs p.E355fs PPP3CC_ENST00000289963.8_Frame_Shift_Del_p.E355fs|PPP3CC_ENST00000397775.3_Frame_Shift_Del_p.E355fs NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme 355 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) TTTGTTGGGGAAAAAGGTAAG 0.398 7 1165 --- --- --- --- KIAA1967 0 broad.mit.edu 37 8 22472975 22472975 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:22472975delC ENST00000308511.4 + 12 1492 c.1243delC c.(1243-1245)ccfs p.P416fs RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Frame_Shift_Del_p.P91fs|KIAA1967_ENST00000389279.3_Frame_Shift_Del_p.P416fs Q8N163 K1967_HUMAN 416 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) GCAGCCGGGACCCCCCCGGCG 0.582 8 1000 --- --- --- --- NUGGC 389643 broad.mit.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 16 1378 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 13 501 --- --- --- --- PXDNL 137902 broad.mit.edu 37 8 52359596 52359596 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:52359596delT ENST00000356297.4 - 12 1593 c.1493delA c.(1492-1494)agfs p.K498fs PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 498 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CACAGACACCTTTTTCACCCC 0.448 9 1717 --- --- --- --- TERF1 7013 broad.mit.edu 37 8 73921284 73921286 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:73921284_73921286delGAG ENST00000276602.6 + 1 186_188 c.163_165delGAG c.(163-165)del p.E62del TERF1_ENST00000276603.5_In_Frame_Del_p.E62del NM_003218.3 NP_003209.2 P54274 TERF1_HUMAN telomeric repeat binding factor (NIMA-interacting) 1 62 Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Breast(64;0.218) Epithelial(68;0.0984) GGGGGCCCCCgaggaggaggagg 0.650 8 139 --- --- --- --- TMEM55A 55529 broad.mit.edu 37 8 92032481 92032481 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:92032481delT ENST00000285419.3 - 3 580 c.266delA c.(265-267)acfs p.N89fs NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 89 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) TGTTGGGGGGTTTTTGATTGG 0.393 10 685 --- --- --- --- ESRP1 54845 broad.mit.edu 37 8 95686610 95686611 + Frame_Shift_Ins INS - - A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:95686610_95686611insA ENST00000433389.2 + 12 1717_1718 c.1527_1528insA c.(1525-1530)caaaaafs p.QK509fs ESRP1_ENST00000358397.5_Frame_Shift_Ins_p.QK509fs|ESRP1_ENST00000454170.2_Frame_Shift_Ins_p.QK509fs|ESRP1_ENST00000423620.2_Frame_Shift_Ins_p.QK509fs NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 509 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding p.N512fs*8(2) ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 AGAAGTGTCATAAAAAAAACAT 0.436 7 559 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 100990177 100990178 + Frame_Shift_Ins INS - - T rs7841915 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:100990177_100990178insT ENST00000360863.6 - 23 3680_3681 c.3486_3487insA c.(3484-3489)aatggcfs p.NG1162fs RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs 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 7 418 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 101076179 101076181 + In_Frame_Del DEL CTT CTT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:101076179_101076181delCTT ENST00000360863.6 - 8 1009_1011 c.815_817delAAG c.(814-819)gga>g p.EG272del RGS22_ENST00000523287.1_In_Frame_Del_p.EG91del|RGS22_ENST00000523437.1_In_Frame_Del_p.EG260del NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 272 Poly-Glu. 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) tcttcttctccttcttcttcttc 0.374 8 1109 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101721933 101721933 + Frame_Shift_Del DEL T T - rs112966887 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:101721933delT ENST00000318607.5 - 8 2127 c.999delA c.(997-999)aafs p.K333fs PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K301fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K288fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 333 RRM 4. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) AACCAAACCCTTTGCTGCGAC 0.383 29 365 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 11 653 --- --- --- --- PHF20L1 51105 broad.mit.edu 37 8 133826909 133826909 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:133826909delA ENST00000395386.2 + 10 1257 c.958delA c.(958-960)aafs p.K321fs PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395383.1_Frame_Shift_Del_p.K325fs|PHF20L1_ENST00000395382.3_Frame_Shift_Del_p.K191fs|PHF20L1_ENST00000315808.10_Frame_Shift_Del_p.K321fs|PHF20L1_ENST00000395390.2_Frame_Shift_Del_p.K296fs NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 321 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TCAAAGTCAGAAAAAAAATGA 0.348 7 560 --- --- --- --- AGO2 27161 broad.mit.edu 37 8 141554345 141554345 + Frame_Shift_Del DEL G G - rs148575703 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 9 1408 --- --- --- --- CPSF1 29894 broad.mit.edu 37 8 145621958 145621959 + Splice_Site INS - - G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:145621958_145621959insG ENST00000349769.3 - 25 2777 c.e25-2 NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding p.?(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GTGAGGGACCTGGGGGGGAACC 0.644 7 1061 --- --- --- --- PTPLAD2 401494 broad.mit.edu 37 9 21007045 21007046 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 11 632 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 9 145 --- --- --- --- ANKRD19P 0 broad.mit.edu 37 9 95599088 95599089 + RNA DEL CA CA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr9:95599088_95599089delCA ENST00000473204.1 + 0 1169_1170 TTCACGGGCGCACACACACACA 0.421 8 340 --- --- --- --- DAB2IP 153090 broad.mit.edu 37 9 124522389 124522391 + In_Frame_Del DEL AAG AAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr9:124522389_124522391delAAG ENST00000408936.3 + 6 1023_1025 c.841_843delAAG c.(841-843)del p.K285del DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del|DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 285 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGAGACCGACAAGAAGAAGAAGA 0.601 10 531 --- --- --- --- FNBP1 23048 broad.mit.edu 37 9 132687243 132687243 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr9:132687243delT ENST00000420781.1 - 9 1201 c.983delA c.(982-984)atfs p.N328fs FNBP1_ENST00000446176.2_Frame_Shift_Del_p.N328fs|FNBP1_ENST00000355681.3_Frame_Shift_Del_p.N328fs|FNBP1_ENST00000478129.1_5'UTR Q96RU3 FNBP1_HUMAN formin binding protein 1 328 Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) CAGTACCTTATTTTTTTTGAT 0.378 T MLL AML 9 108 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135941982 135941982 + Frame_Shift_Del DEL G G - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 10 1406 --- --- --- --- GRIN1 2902 broad.mit.edu 37 9 140056884 140056886 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr9:140056884_140056886delGAG ENST00000371561.3 + 13 2877_2879 c.1780_1782delGAG c.(1780-1782)del p.E598del GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del 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 12 297 --- --- --- --- PRKCQ 5588 broad.mit.edu 37 10 6527117 6527117 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:6527117delT ENST00000263125.5 - 10 1114 c.1015delA c.(1015-1017)gafs p.R339fs PRKCQ_ENST00000397176.2_Frame_Shift_Del_p.R339fs|PRKCQ_ENST00000539722.1_Frame_Shift_Del_p.R214fs NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 339 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CAGCTACCTCTTTTTCCCGGT 0.443 7 1300 --- --- --- --- EBLN1 340900 broad.mit.edu 37 10 22498484 22498485 + In_Frame_Ins INS - - AGA rs145490621 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:22498484_22498485insAGA ENST00000422359.2 - 1 465_466 c.428_429insTCT c.(427-429)cat>cTCTat p.143_143H>LY NM_001199938.1 NP_001186867.1 endogenous Bornavirus-like nucleoprotein 1 CAATGCCTATCAGATCACAGCA 0.455 25 31 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 8 452 --- --- --- --- MYO3A 53904 broad.mit.edu 37 10 26462760 26462760 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:26462760delA ENST00000265944.5 + 30 3733 c.3567delA c.(3565-3567)ccfs p.P1189fs MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1189 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.M1192fs*1(2) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATCAGACTCCAAAAAAAATGA 0.403 8 340 --- --- --- --- C10orf68 79741 broad.mit.edu 37 10 33018277 33018277 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:33018277delA ENST00000375030.2 + 13 1360 c.742delA c.(742-744)aafs p.K250fs C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs|C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs 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 8 432 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52569667 52569669 + In_Frame_Del DEL AGC AGC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:52569667_52569669delAGC ENST00000395489.2 - 14 1993_1995 c.1597_1599delGCT c.(1597-1599)del p.A533del A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|A1CF_ENST00000373993.1_In_Frame_Del_p.A540del|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_In_Frame_Del_p.A532del|A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del|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 9 419 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. 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) CACAGTGGGGCTCCTCCTCCTCC 0.635 10 871 --- --- --- --- FAS 355 broad.mit.edu 37 10 90768708 90768708 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:90768708delT ENST00000355740.2 + 4 617 c.397delT c.(397-399)ttfs p.F134fs FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 134 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) TAAACCAAACTTTTTTTGTAA 0.368 7 3366 --- --- --- --- HECTD2 143279 broad.mit.edu 37 10 93247481 93247481 + Frame_Shift_Del DEL A A - rs57105282 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:93247481delA ENST00000446394.1 + 12 1249 c.1149delA c.(1147-1149)gcfs p.A383fs HECTD2_ENST00000298068.5_Frame_Shift_Del_p.A379fs|HECTD2_ENST00000536715.1_Intron|HECTD2_ENST00000498446.1_3'UTR|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 8 758 --- --- --- --- HELLS 3070 broad.mit.edu 37 10 96331163 96331163 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:96331163delA ENST00000348459.5 + 7 559 c.454delA c.(454-456)aafs p.K153fs HELLS_ENST00000371332.4_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394036.1_Stop_Codon_Del|HELLS_ENST00000394045.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000239026.6_3'UTR 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 8 310 --- --- --- --- SCD 6319 broad.mit.edu 37 10 102107836 102107838 + In_Frame_Del DEL ACC ACC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 9 874 --- --- --- --- NT5C2 22978 broad.mit.edu 37 10 104849436 104849438 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:104849436_104849438delTCC ENST00000343289.5 - 18 1764_1766 c.1677_1679delGGA c.(1675-1680)gaa>ga p.EE559del NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_In_Frame_Del_p.EE530del|NT5C2_ENST00000404739.3_In_Frame_Del_p.EE559del NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 559 Asp/Glu-rich (acidic). purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) tccttattcttcctcctcctcct 0.502 12 245 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 9 874 --- --- --- --- ATHL1 80162 broad.mit.edu 37 11 293711 293712 + Frame_Shift_Ins INS - - C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:293711_293712insC ENST00000409548.2 + 10 1713_1714 c.1598_1599insC c.(1597-1599)gccfs p.A533fs ATHL1_ENST00000409655.1_Frame_Shift_Ins_p.A285fs|ATHL1_ENST00000409479.1_Frame_Shift_Ins_p.A560fs NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 533 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 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;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) TCCCCCCAGGGCCCCGCCATGA 0.619 7 812 --- --- --- --- CDHR5 53841 broad.mit.edu 37 11 618999 618999 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:618999delC ENST00000358353.3 - 14 1882 c.1560delG c.(1558-1560)ggfs p.G520fs CDHR5_ENST00000397542.2_Frame_Shift_Del_p.G520fs|CDHR5_ENST00000349570.7_Intron Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 520 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P522fs*253(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 CACCCGGGGGCCCCCCGGGTG 0.682 11 848 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 32 839 --- --- --- --- SMPD1 6609 broad.mit.edu 37 11 6412853 6412854 + Frame_Shift_Ins INS - - C rs74053349 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:6412853_6412854insC ENST00000342245.4 + 2 726_727 c.558_559insC c.(556-561)ccccccfs p.PP186fs SMPD1_ENST00000299397.3_Frame_Shift_Ins_p.PP186fs|SMPD1_ENST00000356761.2_Frame_Shift_Ins_p.PP186fs|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Frame_Shift_Ins_p.PP185fs NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 184 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) TGCCGAAGCCGCCCCCCAAACC 0.624 9 88 --- --- --- --- RRP8 23378 broad.mit.edu 37 11 6623336 6623338 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 11 463 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 12 928 --- --- --- --- SAAL1 113174 broad.mit.edu 37 11 18127531 18127533 + In_Frame_Del DEL CCT CCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:18127531_18127533delCCT ENST00000524803.1 - 1 105_107 c.56_58delAGG c.(55-60)gtg>g p.EV19del SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_In_Frame_Del_p.EV19del|SAAL1_ENST00000529318.1_In_Frame_Del_p.EV19del Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 19 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 CCACCGGCCACCTCCTCCTCCTC 0.670 OREG0020819 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 122 --- --- --- --- TSG101 7251 broad.mit.edu 37 11 18505466 18505466 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:18505466delT ENST00000536719.1 - 8 928 c.794delA c.(793-795)agfs p.K265fs TSG101_ENST00000357193.3_Frame_Shift_Del_p.K160fs|TSG101_ENST00000251968.3_Frame_Shift_Del_p.K265fs Q99816 TS101_HUMAN tumor susceptibility 101 265 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 CTGGTGACCCTTTTTCAGGTC 0.438 9 2201 --- --- --- --- KBTBD4 55709 broad.mit.edu 37 11 47599139 47599139 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:47599139delA ENST00000533290.1 - 1 1202 c.488delT c.(487-489)tgfs p.L163fs KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000533507.1_Intron Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 138 BACK. NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 TGTGCGGGCCAAAAACCGAGA 0.517 7 1397 --- --- --- --- OR4C13 283092 broad.mit.edu 37 11 49974149 49974149 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:49974149delT ENST00000555099.1 + 1 207 c.175delT c.(175-177)ttfs p.F60fs NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CCCCATGTACTTTTTCCTGGC 0.423 9 2346 --- --- --- --- OR4C15 81309 broad.mit.edu 37 11 55322733 55322733 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:55322733delT ENST00000314644.2 + 1 951 c.951delT c.(949-951)gcfs p.A317fs NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CTCCATCTGCTTTTTCCCTTG 0.403 HNSCC(20;0.049) 7 1419 --- --- --- --- TNKS1BP1 85456 broad.mit.edu 37 11 57076529 57076529 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:57076529delC ENST00000532437.1 - 5 3967 c.3656delG c.(3655-3657)gafs p.G1219fs TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1219fs Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1219 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.G1219E(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AACTCCGATTCCCCCCGGCTC 0.582 11 2151 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183765 61183767 + In_Frame_Del DEL AGG AGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:61183765_61183767delAGG ENST00000340437.4 - 6 984_986 c.904_906delCCT c.(904-906)del p.P302del CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 259 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 AGTGGATACCAGGAGGAGGAGGA 0.611 12 439 --- --- --- --- RPLP0P2 0 broad.mit.edu 37 11 61405017 61405019 + RNA DEL CTG CTG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:61405017_61405019delCTG ENST00000496593.1 + 0 1621_1623 NR_002775.2 acagctgctcctgctgctgctgc 0.557 7 186 --- --- --- --- FADS2 9415 broad.mit.edu 37 11 61607885 61607887 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:61607885_61607887delTCC ENST00000278840.4 + 3 1028_1030 c.398_400delTCC c.(397-402)ttc>t p.FL133del FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 133 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CACGTGTTCTTCCTCCTCCTCCT 0.537 12 1439 --- --- --- --- VEGFB 7423 broad.mit.edu 37 11 64004663 64004663 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:64004663delA ENST00000309422.2 + 5 675 c.379delA c.(379-381)aafs p.K129fs VEGFB_ENST00000426086.2_Frame_Shift_Del_p.K129fs NM_001243733.1|NM_003377.4 NP_001230662.1|NP_003368.1 P49765 VEGFB_HUMAN vascular endothelial growth factor B 129 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding p.K129fs*5(2) endometrium(2)|large_intestine(2)|prostate(1)|stomach(1) 6 TTTCAGACCTAAAAAAAAGGA 0.473 11 810 --- --- --- --- MRPL49 740 broad.mit.edu 37 11 64892961 64892961 + Splice_Site DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:64892961delC ENST00000279242.2 + 3 250 c.229_splice c.e3-1 p.D77_splice MRPL49_ENST00000534078.1_Splice_Site_p.T27_splice|MRPL49_ENST00000526171.1_Splice_Site_p.D77_splice|MRPL49_ENST00000524482.1_3'UTR|MRPL49_ENST00000531705.1_Intron NM_004927.3 NP_004918.1 Q13405 RM49_HUMAN mitochondrial ribosomal protein L49 77 translation mitochondrial ribosome protein binding|structural constituent of ribosome endometrium(1)|ovary(1) 2 CTGTTGCAGACCCCCCACCCA 0.562 7 1067 --- --- --- --- CCND1 595 broad.mit.edu 37 11 69465988 69465990 + In_Frame_Del DEL GAG GAG - rs3830296 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:69465988_69465990delGAG ENST00000227507.2 + 5 1053_1055 c.826_828delGAG c.(826-828)del p.E280del NM_053056.2 NP_444284.1 P24385 CCND1_HUMAN cyclin D1 280 Poly-Glu. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) ggaggaggaagaggaggaggagg 0.704 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 7 221 --- --- --- --- GDPD4 220032 broad.mit.edu 37 11 76928312 76928315 + Splice_Site DEL ATCT ATCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:76928312_76928315delATCT ENST00000376217.2 - 17 1791_1792 c.1540_splice c.e17-1 p.514_splice GDPD4_ENST00000315938.4_3'UTR Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 514 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 CTATGTGCAAatctatctatctat 0.471 8 544 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527956.1_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 22 1051 --- --- --- --- TAF1D 79101 broad.mit.edu 37 11 93471452 93471453 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:93471452_93471453insT ENST00000448108.2 - 3 931_932 c.281_282insA c.(280-282)aaafs p.K94fs NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 TCCTCTTTTTCTTTTTTTTATA 0.347 9 982 --- --- --- --- AMOTL1 154810 broad.mit.edu 37 11 94597973 94597975 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:94597973_94597975delGAG ENST00000433060.2 + 10 2350_2352 c.2209_2211delGAG c.(2209-2211)del p.E740del AMOTL1_ENST00000317829.8_In_Frame_Del_p.E690del|AMOTL1_ENST00000317837.9_Intron NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 740 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CATCTGGCAAGAGGAGGAGGAGG 0.562 7 920 --- --- --- --- BUD13 84811 broad.mit.edu 37 11 116628987 116628987 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:116628987delT ENST00000260210.4 - 7 1520 c.1497delA c.(1495-1497)aafs p.K499fs BUD13_ENST00000375445.3_Frame_Shift_Del_p.K365fs NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 499 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) TCCCTTACCCTTTTCCCCACT 0.448 8 1669 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 23 487 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546732 11546733 + In_Frame_Ins INS - - AGA TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:11546732_11546733insAGA ENST00000389362.4 - 3 314_315 c.279_280insTCT c.(277-282)ccctcc>ccTCTctcc p.93_94PS>PLS PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTCCTGGAGGTGGGGGACCTT 0.614 11 2520 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546856 11546858 + In_Frame_Del DEL AGA AGA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:11546856_11546858delAGA ENST00000389362.4 - 3 189_191 c.154_156delTCT c.(154-156)del p.S52del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTCCTGGAGGAGATGGGGGACCT 0.557 16 1754 --- --- --- --- GPRC5A 0 broad.mit.edu 37 12 13061419 13061420 + Frame_Shift_Ins INS - - TGGC TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:13061419_13061420insTGGC ENST00000014914.5 + 2 1126_1127 c.236_237insTGGC c.(235-237)tggfs p.W79fs GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 79 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TTGGGCATCTTTGGCCTCACCT 0.559 63 994 --- --- --- --- KIF21A 55605 broad.mit.edu 37 12 39735366 39735368 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:39735366_39735368delTCC ENST00000395670.3 - 14 2279_2281 c.1860_1862delGGA c.(1858-1863)gaa>ga p.EE620del KIF21A_ENST00000361418.5_In_Frame_Del_p.EE620del|KIF21A_ENST00000544797.2_In_Frame_Del_p.EE607del|KIF21A_ENST00000541463.2_In_Frame_Del_p.EE607del|KIF21A_ENST00000361961.3_In_Frame_Del_p.EE607del Q7Z4S6 KI21A_HUMAN kinesin family member 21A 620 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) AATGTCAtcttcctcctcctcct 0.374 8 282 --- --- --- --- KIF21A 55605 broad.mit.edu 37 12 39763593 39763594 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:39763593_39763594insT ENST00000395670.3 - 3 806_807 c.387_388insA c.(385-390)aaacatfs p.H130fs KIF21A_ENST00000361418.5_Frame_Shift_Ins_p.H130fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.H130fs|KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.H130fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.H130fs Q7Z4S6 KI21A_HUMAN kinesin family member 21A 130 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) ATTGCTATGTGTTTTTTTTCTT 0.317 7 266 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49442512 49442514 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:49442512_49442514delTCC ENST00000301067.7 - 13 4058_4060 c.4059_4061delGGA c.(4057-4062)gaa>ga p.EE1353del NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATCATCTTCTTCCTCCTCCTCCT 0.478 10 1425 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 14 1159 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 9 563 --- --- --- --- ERBB3 2065 broad.mit.edu 37 12 56481662 56481662 + Frame_Shift_Del DEL G G - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:56481662delG ENST00000267101.3 + 6 1137 c.697delG c.(697-699)ggfs p.G234fs ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Frame_Shift_Del_p.G175fs NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 234 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TGAGTGTGCCGGGGGCTGCTC 0.547 8 1164 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:56558379_56558381delAGG ENST00000550164.1 - 28 3381_3383 c.3367_3369delCCT c.(3367-3369)del p.P1123del RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000347471.4_Intron Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1092 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGATGGAGCAGGAGGAGGAGGA 0.591 7 243 --- --- --- --- LRIG3 121227 broad.mit.edu 37 12 59268350 59268351 + Frame_Shift_Ins INS - - G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:59268350_59268351insG ENST00000320743.3 - 17 2986_2987 c.2700_2701insC c.(2698-2703)acgccafs p.P901fs LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 901 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TCAATATGGCAGGTCCCTTTGA 0.401 T ROS1 NSCLC 8 491 --- --- --- --- ACSS3 79611 broad.mit.edu 37 12 81624902 81624902 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:81624902delC ENST00000548058.1 + 12 2491 c.1581delC c.(1579-1581)tafs p.Y527fs ACSS3_ENST00000261206.3_Frame_Shift_Del_p.Y526fs|ACSS3_ENST00000548324.1_Frame_Shift_Del_p.Y209fs Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 527 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 AGCATTTATACTTTGAAAAAT 0.308 27 178 --- --- --- --- HVCN1 84329 broad.mit.edu 37 12 111099110 111099112 + In_Frame_Del DEL CTC CTC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:111099110_111099112delCTC ENST00000356742.5 - 3 916_918 c.163_165delGAG c.(163-165)del p.E55del HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del|HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 55 Poly-Glu. response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 GTGGTGGCTGctcctcctcctcc 0.606 9 314 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:111758235_111758237delTCC ENST00000261726.6 + 17 2576_2578 c.2422_2424delTCC c.(2422-2424)del p.S813del NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 813 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCCTCGCTGTCCTCCTCCTCCT 0.749 9 312 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 10 446 --- --- --- --- WDR66 144406 broad.mit.edu 37 12 122437802 122437802 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:122437802delA ENST00000288912.4 + 20 4041 c.3187delA c.(3187-3189)aafs p.K1064fs NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 1064 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CTCCAAAGGGAAAAAGGCCAT 0.468 9 542 --- --- --- --- VPS37B 79720 broad.mit.edu 37 12 123351892 123351892 + Frame_Shift_Del DEL G G - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:123351892delG ENST00000267202.2 - 4 1010 c.629delC c.(628-630)cafs p.P213fs NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 213 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane p.P211fs*>76(1) breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) CGGGGGTGGTGGGGGGGGGAT 0.716 9 145 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:123794283delT ENST00000420886.2 - 25 3415 c.3416delA c.(3415-3417)atfs p.N1139fs SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(1) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATATCTTCCATTTTTTTTGGC 0.388 9 699 --- --- --- --- CCDC92 80212 broad.mit.edu 37 12 124421800 124421800 + Frame_Shift_Del DEL G G - rs147939560 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:124421800delG ENST00000545135.1 - 3 4046 c.750delC c.(748-750)ccfs p.P250fs CCDC92_ENST00000545891.1_Frame_Shift_Del_p.P250fs|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Frame_Shift_Del_p.P267fs Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 267 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) CGGAGGCGATGGGGGGGATGA 0.682 8 382 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23912864 23912864 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr13:23912864delT ENST00000382298.3 - 10 5739 c.5151delA c.(5149-5151)aafs p.K1717fs SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.K1717fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1717 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGAGCAGGATTTTTTTTTAA 0.358 7 323 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23914687 23914687 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr13:23914687delT ENST00000382298.3 - 10 3916 c.3328delA c.(3328-3330)ttfs p.I1110fs SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1110 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGGCTTCAATTTTTTTTGCC 0.383 20 1907 --- --- --- --- CDK8 1024 broad.mit.edu 37 13 26975609 26975611 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr13:26975609_26975611delCAG ENST00000381527.3 + 12 1620_1622 c.1117_1119delCAG c.(1117-1119)del p.Q377del CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 377 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TGAGAAGAACCAGCAGCAGCAGC 0.463 8 295 --- --- --- --- HSPH1 10808 broad.mit.edu 37 13 31715381 31715382 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr13:31715381_31715382insT ENST00000320027.5 - 13 2075_2076 c.1731_1732insA c.(1729-1734)aattgafs p.N*577fs HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 577 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTGGTCAACTTTTTTTTCAT 0.376 12 483 --- --- --- --- LRCH1 23143 broad.mit.edu 37 13 47243183 47243186 + Frame_Shift_Del DEL CCTG CCTG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr13:47243183_47243186delCCTG ENST00000311191.6 + 3 700_703 c.471_474delCCTG c.(469-474)gcfs p.AL157fs LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389798.3_Frame_Shift_Del_p.AL157fs NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 157 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) AGCTGTCCGCCCTGCCTGCCTGCC 0.436 9 1294 --- --- --- --- INTS6 26512 broad.mit.edu 37 13 51948408 51948408 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr13:51948408delT ENST00000311234.4 - 15 2512 c.2040delA c.(2038-2040)aafs p.K680fs INTS6_ENST00000490542.1_Frame_Shift_Del_p.K364fs|INTS6_ENST00000497989.1_Frame_Shift_Del_p.K502fs|INTS6_ENST00000425000.1_Frame_Shift_Del_p.K248fs|INTS6_ENST00000398119.2_Frame_Shift_Del_p.K667fs|INTS6_ENST00000463928.1_Intron NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 680 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) CAGGTGGTCCTTTTCCCCCAA 0.398 7 1481 --- --- --- --- LMO7 4008 broad.mit.edu 37 13 76415307 76415308 + Frame_Shift_Del DEL AG AG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr13:76415307_76415308delAG ENST00000357063.3 + 24 5061_5062 c.3801_3802delAG c.(3799-3804)gcagfs p.AE1267fs LMO7_ENST00000526202.1_Frame_Shift_Del_p.AE859fs|LMO7_ENST00000377534.3_Frame_Shift_Del_p.AE1267fs|LMO7_ENST00000465261.2_Frame_Shift_Del_p.AE982fs|LMO7_ENST00000341547.4_Frame_Shift_Del_p.AE933fs|LMO7_ENST00000321797.8_Frame_Shift_Del_p.AE982fs Q8WWI1 LMO7_HUMAN LIM domain 7 1267 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AACAGGAGGCAGAGAGAGAGAA 0.386 8 515 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88329794 88329796 + In_Frame_Del DEL CGG CGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 10 360 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20087555 20087556 + RNA INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:20087555_20087556insT ENST00000548261.1 + 0 135 Cttttaaaatatttttttattt 0.297 9 62 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138373 20138374 + RNA INS - - AAG rs150133272 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:20138373_20138374insAAG ENST00000548261.1 + 0 391 GAAACAaaagaaagaaagaaag 0.396 11 16 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20852647 20852647 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:20852647delC ENST00000262715.5 - 23 3282 c.3242delG c.(3241-3243)gtfs p.G1081fs TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.V1082fs*47(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGCTGCCACACCCCCCCACTC 0.587 12 1635 --- --- --- --- APEX1 328 broad.mit.edu 37 14 20923820 20923820 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:20923820delA ENST00000216714.3 + 2 284 c.16delA c.(16-18)aafs p.K7fs APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557365.1_Intron|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs NM_001244249.1|NM_001641.3 NP_001231178.1|NP_001632.2 P27695 APEX1_HUMAN APEX nuclease (multifunctional DNA repair enzyme) 1 7 Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli. base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) GAAGCGTGGGAAAAAGGGAGC 0.557 Other BER factors 7 740 --- --- --- --- SALL2 6297 broad.mit.edu 37 14 21993077 21993079 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:21993077_21993079delGAG ENST00000327430.3 - 2 1077_1079 c.783_785delCTC c.(781-786)tct>tc p.SS263del SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 263 Poly-Ser. 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) Tgaagaggaagaggaggaggagg 0.591 11 275 --- --- --- --- TRDV1 0 broad.mit.edu 37 14 22564710 22564710 + RNA DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:22564710delT ENST00000390452.2 + 0 179 TCATATTATATTTTTTGGTAC 0.438 7 836 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 43 639 --- --- --- --- LTB4R 1241 broad.mit.edu 37 14 24785074 24785074 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:24785074delT ENST00000396789.4 + 2 1942 c.217delT c.(217-219)ttfs p.F74fs LTB4R_ENST00000345363.3_Frame_Shift_Del_p.F74fs|LTB4R_ENST00000396782.2_Frame_Shift_Del_p.F74fs NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 74 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) CACTGCTCCCTTTTTCCTTCA 0.582 7 1086 --- --- --- --- ADCY4 196883 broad.mit.edu 37 14 24803757 24803759 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:24803757_24803759delCAG ENST00000310677.4 - 2 213_215 c.100_102delCTG c.(100-102)del p.L34del ADCY4_ENST00000554068.2_In_Frame_Del_p.L34del|RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000418030.2_In_Frame_Del_p.L34del|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000558563.1_5'UTR 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 8 68 --- --- --- --- KCNH5 27133 broad.mit.edu 37 14 63174303 63174303 + Frame_Shift_Del DEL G G - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:63174303delG ENST00000322893.7 - 11 3158 c.2890delC c.(2890-2892)agfs p.Q964fs KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 964 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CATGGTATCTGGGGGGGTACT 0.393 11 1747 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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 activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 9 249 --- --- --- --- CCNK 8812 broad.mit.edu 37 14 99969244 99969246 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 7 803 --- --- --- --- EVL 51466 broad.mit.edu 37 14 100594926 100594927 + Frame_Shift_Ins INS - - C rs150744633 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:100594926_100594927insC ENST00000544450.2 + 6 853_854 c.570_571insC c.(568-573)ccccccfs p.PP190fs EVL_ENST00000392920.3_Frame_Shift_Ins_p.PP186fs|EVL_ENST00000402714.2_Frame_Shift_Ins_p.PP184fs Q9UI08 EVL_HUMAN Enah/Vasp-like 184 Pro-rich. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding p.P189fs*41(1) cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) GGcctccaccgccccccccacc 0.688 11 269 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25324325 25324325 + RNA DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr15:25324325delT ENST00000549804.2 + 0 1377 ACAACTGTCATTTTTTTTGAT 0.478 10 383 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 18 946 --- --- --- --- RMDN3 55177 broad.mit.edu 37 15 41029893 41029894 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr15:41029893_41029894insT ENST00000260385.6 - 9 2223_2224 c.1156_1157insA c.(1156-1158)tgcfs p.C386fs RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs|RMDN3_ENST00000558560.1_5'UTR regulator of microtubule dynamics 3 GGCTGTAGCAGTTTTTTTTTCT 0.450 11 340 --- --- --- --- TTBK2 146057 broad.mit.edu 37 15 43038023 43038024 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr15:43038023_43038024insT ENST00000267890.6 - 15 3812_3813 c.3704_3705insA c.(3703-3705)aagfs p.K1235fs NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1235 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CTGGCTTACTCTTCCCTTGGGG 0.535 15 1175 --- --- --- --- TTBK2 146057 broad.mit.edu 37 15 43038025 43038026 + Frame_Shift_Ins INS - - C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr15:43038025_43038026insC ENST00000267890.6 - 15 3810_3811 c.3702_3703insG c.(3700-3705)ggagagfs p.E1235fs NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1235 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GGCTTACTCTTCCCTTGGGGGG 0.540 13 1195 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64972995 64972997 + In_Frame_Del DEL CAC CAC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr15:64972995_64972997delCAC ENST00000326648.3 + 7 4224_4226 c.4096_4098delCAC c.(4096-4098)del p.H1371del NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1371 Poly-His. nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GATGTCCACACACCACCACCACC 0.591 12 925 --- --- --- --- IGDCC3 9543 broad.mit.edu 37 15 65621765 65621765 + Frame_Shift_Del DEL G G - rs145360224 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr15:65621765delG ENST00000327987.4 - 13 2419 c.2168delC c.(2167-2169)cgfs p.P723fs NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 723 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGCGCTGGCCGGGGGGAACAG 0.632 7 1227 --- --- --- --- NR2F2 7026 broad.mit.edu 37 15 96875470 96875470 + Frame_Shift_Del DEL G G - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr15:96875470delG ENST00000394166.3 + 1 1525 c.136delG c.(136-138)ggfs p.G47fs NR2F2_ENST00000421109.2_Intron NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 47 lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) GCCCGGCCAAGGGGGCCCAGC 0.786 2 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 10 42 --- --- --- --- BRICD5 283870 broad.mit.edu 37 16 2260586 2260588 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:2260586_2260588delCAG ENST00000328540.3 - 2 1231_1233 c.115_117delCTG c.(115-117)del p.L39del BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGGCcagcaccagcagcagcagc 0.660 12 174 --- --- --- --- NPIPA1 9284 broad.mit.edu 37 16 15045758 15045759 + Frame_Shift_Ins INS - - GT TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:15045758_15045759insGT ENST00000328085.6 + 8 929_930 c.929_930insGT c.(928-930)gtgfs p.V310fs NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 ACACCTCCCGAGTGTCTGCTCA 0.559 11 856 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19580800 19580802 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:19580800_19580802delTCC ENST00000438132.3 + 3 487_489 c.439_441delTCC c.(439-441)del p.S153del C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 64 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTCTTCCACGTCCTCCTCCTCCT 0.562 15 411 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 21063028 21063028 + Frame_Shift_Del DEL G G - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:21063028delG ENST00000261383.3 - 29 4200 c.4201delC c.(4201-4203)ggfs p.R1401fs DNAH3_ENST00000415178.1_Frame_Shift_Del_p.R1401fs NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1401 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATCACCAGCCGGGGGGAGTTT 0.567 9 905 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:27373787_27373789delGAG ENST00000395762.2 + 11 1373_1375 c.1114_1116delGAG c.(1114-1116)del p.E376del IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 376 Poly-Glu. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGTGGAGTGTGAGGAGGAGGAGG 0.591 16 407 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 11 3320 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29992971 29992971 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:29992971delT ENST00000416441.2 + 1 1299 c.126delT c.(124-126)ccfs p.P42fs TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000308893.4_Intron Q9UL54 TAOK2_HUMAN TAO kinase 2 0 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCCTTTCACCTTTTTCTGTAG 0.502 7 400 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:29998498_29998500delCTG ENST00000308893.4 + 16 3948_3950 c.2905_2907delCTG c.(2905-2907)del p.L974del TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 974 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCTGCCCCTCCTGCTGCTGCTGC 0.709 7 485 --- --- --- --- RP11-19N8.4 0 broad.mit.edu 37 16 33070154 33070154 + RNA DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:33070154delC ENST00000561541.1 - 0 291 CCTATCACATCCCATTCCAGC 0.488 11 25 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 19 415 --- --- --- --- CNGB1 1258 broad.mit.edu 37 16 57983275 57983277 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:57983275_57983277delTCC ENST00000564448.1 - 14 1143_1145 c.1083_1085delGGA c.(1081-1086)gaa>ga p.EE363del CNGB1_ENST00000251102.8_In_Frame_Del_p.EE369del Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 369 Poly-Glu. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 ctcctcctcttcctcctcctcct 0.586 7 353 --- --- --- --- KCTD19 146212 broad.mit.edu 37 16 67327780 67327781 + Frame_Shift_Ins INS - - G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:67327780_67327781insG ENST00000304372.5 - 12 1939_1940 c.1884_1885insC c.(1882-1887)ccccacfs p.H629fs NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 629 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) ATGGGAGTGGCGGGAGGGTCTT 0.540 8 1840 --- --- --- --- ACD 65057 broad.mit.edu 37 16 67693646 67693648 + In_Frame_Del DEL GCA GCA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:67693646_67693648delGCA ENST00000219251.8 - 3 873_875 c.542_544delTGC c.(541-546)cag>c p.LQ181del ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 184 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding p.L181delL(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCGCAGTCCTGCAGCAGCAGCAG 0.650 10 1011 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del 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 15 419 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 71220807 71220808 + Frame_Shift_Ins INS - - T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:71220807_71220808insT ENST00000538248.1 - 2 106_107 c.72_73insA c.(70-75)aatactfs p.NT24fs HYDIN_ENST00000448691.1_5'UTR|HYDIN_ENST00000393567.2_5'UTR|HYDIN_ENST00000288168.10_Frame_Shift_Ins_p.NT14fs|HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000541601.1_Frame_Shift_Ins_p.NT14fs|HYDIN_ENST00000393550.2_5'UTR NM_001198542.1 NP_001185471.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATTTTTAGTAATTTTTTTTTCT 0.337 10 430 --- --- --- --- ZCCHC14 23174 broad.mit.edu 37 16 87445610 87445612 + In_Frame_Del DEL TGG TGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:87445610_87445612delTGG ENST00000268616.4 - 12 2521_2523 c.2304_2306delCCA c.(2302-2307)cat>ca p.HH768del NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 768 His-rich. 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) GGGCTGCtgatggtggtggtggt 0.665 10 308 --- --- --- --- SPG7 6687 broad.mit.edu 37 16 89613072 89613073 + Frame_Shift_Ins INS - - G rs111475461 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:89613072_89613073insG ENST00000268704.2 + 11 1471_1472 c.1456_1457insG c.(1456-1458)ggafs p.G486fs NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 486 R -> Q. cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCAGGAGAGGCGGGAGATTTTT 0.594 20 1222 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 23 499 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 18 1475 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:7801857_7801859delAAG ENST00000380358.4 + 13 2273_2275 c.2272_2274delAAG c.(2272-2274)del p.K762del CHD3_ENST00000358181.4_In_Frame_Del_p.K703del|CHD3_ENST00000330494.7_In_Frame_Del_p.K703del NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 703 Helicase ATP-binding. 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) CCGCAAGTATAAGAAGAAGAAGA 0.488 12 318 --- --- --- --- NDEL1 81565 broad.mit.edu 37 17 8370271 8370273 + In_Frame_Del DEL CTC CTC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:8370271_8370273delCTC ENST00000334527.7 + 9 1165_1167 c.968_970delCTC c.(967-972)gct>g p.AP323del NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000585098.1_Intron 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 8 688 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620932 27620934 + In_Frame_Del DEL TGG TGG - rs1054145 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:27620932_27620934delTGG ENST00000225388.4 - 1 202_204 c.144_146delCCA c.(142-147)cat>ca p.HH50del NUFIP2_ENST00000579665.1_In_Frame_Del_p.HH50del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 50 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) Ctggtgatgatggtggtggtggt 0.591 10 1079 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 8 486 --- --- --- --- SLFN13 146857 broad.mit.edu 37 17 33771808 33771808 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:33771808delT ENST00000285013.6 - 3 1167 c.892delA c.(892-894)tcfs p.I298fs SLFN13_ENST00000542635.1_Frame_Shift_Del_p.I298fs|SLFN13_ENST00000526861.1_Frame_Shift_Del_p.I298fs|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Frame_Shift_Del_p.I298fs NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 298 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ACTTCTACGATTTTGGTGCTG 0.413 7 1681 --- --- --- --- WNK4 65266 broad.mit.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:40939870delG ENST00000246914.5 + 8 1837 c.1816delG c.(1816-1818)ggfs p.G607fs WNK4_ENST00000587705.1_Intron NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 607 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TCAGCCCCCTGGGGGGGTGCC 0.637 9 579 --- --- --- --- HDAC5 10014 broad.mit.edu 37 17 42157800 42157801 + Frame_Shift_Ins INS - - G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:42157800_42157801insG ENST00000225983.6 - 22 3119_3120 c.2796_2797insC c.(2794-2799)ccttggfs p.W933fs HDAC5_ENST00000393622.2_Frame_Shift_Ins_p.W932fs|HDAC5_ENST00000586802.1_Frame_Shift_Ins_p.W932fs|HDAC5_ENST00000336057.5_Frame_Shift_Ins_p.W847fs Q9UQL6 HDAC5_HUMAN histone deacetylase 5 932 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|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 protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) ACGTCTCCAATGGGGGGGTCCA 0.609 7 747 --- --- --- --- CCDC103 388389 broad.mit.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:42980014_42980015delAG ENST00000417826.2 + 4 653_654 c.558_559delAG c.(556-561)gcagfs p.AE186fs CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs|FAM187A_ENST00000331733.4_5'UTR|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 8 369 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_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 10 642 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 12 716 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 11 1362 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del|BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 15 495 --- --- --- --- TEX14 56155 broad.mit.edu 37 17 56692648 56692651 + Frame_Shift_Del DEL GTGG GTGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:56692648_56692651delGTGG ENST00000389934.3 - 8 940_943 c.823_826delCCAC c.(823-828)acfs p.PH275fs TEX14_ENST00000240361.8_Frame_Shift_Del_p.PH281fs|TEX14_ENST00000349033.5_Frame_Shift_Del_p.PH275fs NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 281 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCTGCAGTGTGGGTGGGTGGGG 0.559 10 984 --- --- --- --- ACE 1636 broad.mit.edu 37 17 61560495 61560495 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:61560495delC ENST00000290866.4 + 9 1472 c.1448delC c.(1447-1449)acfs p.T483fs ACE_ENST00000428043.1_Frame_Shift_Del_p.T483fs|ACE_ENST00000584529.1_Intron|ACE_ENST00000538928.1_Intron NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 483 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AGTGGGCGTACCCCCCCTTCC 0.562 12 1708 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61901501 61901503 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:61901501_61901503delTCC ENST00000427159.2 - 12 1740_1742 c.1095_1097delGGA c.(1093-1098)gaa>ga p.EE365del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 365 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 GTTCAGTTGTtcctcctcctcct 0.562 10 1240 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:66141015_66141016insA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 13 308 --- --- --- --- CD300A 11314 broad.mit.edu 37 17 72469711 72469712 + Frame_Shift_Ins INS - - GC TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:72469711_72469712insGC ENST00000360141.3 + 2 365_366 c.77_78insGC c.(76-78)gccfs p.A26fs CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 26 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 ACCGTGGCGGGCCCCGTGGGGG 0.569 10 939 --- --- --- --- MRPS7 51081 broad.mit.edu 37 17 73258565 73258565 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:73258565delC ENST00000579002.1 + 1 573 c.158delC c.(157-159)tcfs p.S53fs MRPS7_ENST00000245539.6_Intron|MRPS7_ENST00000579761.1_Intron Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 0 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CTCCTCCTTTCCCCCCCTCCC 0.552 7 1630 --- --- --- --- ZACN 353174 broad.mit.edu 37 17 74077980 74077982 + In_Frame_Del DEL CTG CTG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:74077980_74077982delCTG ENST00000334586.5 + 8 981_983 c.898_900delCTG c.(898-900)del p.L304del EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 304 Leu-rich. response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 CTTCACCATCCTGCTGCTGCTGC 0.655 8 711 --- --- --- --- DNAH17 8632 broad.mit.edu 37 17 76506467 76506467 + Splice_Site DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:76506467delT ENST00000389840.5 - 27 4347 c.4224_splice c.e27+1 p.K1408_splice DNAH17_ENST00000585328.1_Splice_Site_p.K1409_splice dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACGGCCTACCTTTTCCATGCC 0.607 9 1883 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_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 8 935 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793004 8793004 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr18:8793004delC ENST00000359865.3 + 8 2038 c.1896delC c.(1894-1896)ggfs p.G632fs SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 AGCTCAGGGGCCCCCCCGTTT 0.552 8 1618 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 27 509 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21750331 21750331 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 8 496 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 11 167 --- --- --- --- SNAPC2 6618 broad.mit.edu 37 19 7987519 7987519 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:7987519delC ENST00000221573.6 + 5 926 c.875delC c.(874-876)acfs p.T292fs SNAPC2_ENST00000597584.1_Frame_Shift_Del_p.T55fs NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 292 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 CCAGAGGAGACCCCCCCAGCC 0.662 7 466 --- --- --- --- ECSIT 51295 broad.mit.edu 37 19 11618821 11618821 + Frame_Shift_Del DEL G G - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:11618821delG ENST00000270517.7 - 5 916 c.781delC c.(781-783)agfs p.Q261fs ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs|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 7 834 --- --- --- --- OR7C1 26664 broad.mit.edu 37 19 14910414 14910414 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:14910414delA ENST00000248073.2 - 1 609 c.535delT c.(535-537)gtfs p.C179fs OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 179 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity p.C179fs*7(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 AGTAGATCACAAAAAAAGTGT 0.478 9 879 --- --- --- --- KIAA1683 80726 broad.mit.edu 37 19 18376953 18376953 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:18376953delT ENST00000392413.3 - 3 1612 c.1397delA c.(1396-1398)acfs p.N466fs KIAA1683_ENST00000600359.2_Frame_Shift_Del_p.N420fs|KIAA1683_ENST00000600328.2_Frame_Shift_Del_p.N466fs NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 466 mitochondrion p.N466S(1) breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTGCAATGGGTTTTTGGCTGG 0.612 9 807 --- --- --- --- SLC7A9 11136 broad.mit.edu 37 19 33353391 33353393 + In_Frame_Del DEL TGA TGA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:33353391_33353393delTGA ENST00000023064.4 - 5 769_771 c.578_580delTCA c.(577-582)agc>a p.IS193del SLC7A9_ENST00000590341.1_In_Frame_Del_p.IS193del|SLC7A9_ENST00000587772.1_In_Frame_Del_p.IS193del NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 193 I -> II (in CSNU). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) ACCAGCCCGCTGATGATGATGAT 0.631 8 604 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 20 234 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 16 3090 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 39019604 39019606 + In_Frame_Del DEL AGG AGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:39019604_39019606delAGG ENST00000355481.4 + 75 11164_11166 c.11033_11035delAGG c.(11032-11037)cag>c p.QE3678del RYR1_ENST00000360985.3_In_Frame_Del_p.QE3683del|RYR1_ENST00000359596.3_In_Frame_Del_p.QE3683del NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3683 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTGGggagcaggaggaggagga 0.576 8 162 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 39075696 39075698 + In_Frame_Del DEL CTT CTT - rs118192171 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:39075696_39075698delCTT ENST00000355481.4 + 101 14876_14878 c.14745_14747delCTT c.(14743-14748)acc>ac p.TF4915del RYR1_ENST00000360985.3_In_Frame_Del_p.TF4915del|RYR1_ENST00000359596.3_In_Frame_Del_p.TF4920del NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4920 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCGACATCACCTTCTTCTTCTTC 0.601 7 559 --- --- --- --- TIMM50 92609 broad.mit.edu 37 19 39972604 39972604 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:39972604delA ENST00000314349.4 + 2 632 c.499delA c.(499-501)aafs p.K168fs TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Frame_Shift_Del_p.K65fs NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 65 FCP1 homology. mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGCTATGCCAAAAAAGTTGC 0.607 7 1716 --- --- --- --- SERTAD1 29950 broad.mit.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:40929409_40929411delCTC ENST00000357949.4 - 2 201_203 c.43_45delGAG c.(43-45)del p.E15del NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCTCC 0.557 11 425 --- --- --- --- NKPD1 284353 broad.mit.edu 37 19 45655769 45655771 + In_Frame_Del DEL CTG CTG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:45655769_45655771delCTG ENST00000317951.4 - 4 1923_1925 c.1924_1926delCAG c.(1924-1926)del p.Q642del NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) CAAAGTCCCCCTGCTGCTGCTGC 0.704 7 54 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47572401 47572403 + In_Frame_Del DEL CTC CTC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 8 762 --- --- --- --- MAMSTR 284358 broad.mit.edu 37 19 49218105 49218106 + Frame_Shift_Ins INS - - G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:49218105_49218106insG ENST00000318083.6 - 6 548_549 c.485_486insC c.(484-486)ccafs p.P162fs MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing transcriptional regulator 162 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 CCAACTTGTGTGGGGGGGGCGA 0.569 8 667 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 18 555 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 18 819 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 7 334 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23065523 23065523 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:23065523delC ENST00000246006.4 - 1 1454 c.1307delG c.(1306-1308)gcfs p.G436fs NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 436 EGF-like 5; calcium-binding (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCAGAGGGGGCCCCCCGGGCC 0.637 7 721 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 9 354 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29624034 29624035 + Frame_Shift_Ins INS - - G rs73621649 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:29624034_29624035insG ENST00000439954.2 + 4 419_420 c.73_74insG c.(73-75)tgafs p.*25fs FRG1B_ENST00000278882.3_Intron|FRG1B_ENST00000358464.4_Intron endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTCTCCAATATTGATGAGGGC 0.287 12 79 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 7 615 --- --- --- --- BCL2L1 598 broad.mit.edu 37 20 30309591 30309591 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:30309591delA ENST00000307677.4 - 2 841 c.431delT c.(430-432)tcfs p.F144fs BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 144 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) GCCGAAGGAGAAAAAGGCCAC 0.542 7 2103 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 9 245 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58490593 58490593 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 8 638 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 12 96 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 13 483 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 9 583 --- --- --- --- PWP2 5822 broad.mit.edu 37 21 45535692 45535694 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr21:45535692_45535694delGAG ENST00000291576.7 + 7 854_856 c.727_729delGAG c.(727-729)del p.E247del NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 247 Poly-Glu. cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) ggaggaggaagaggaggaggagg 0.640 7 258 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR 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 24 468 --- --- --- --- COL18A1 80781 broad.mit.edu 37 21 46911183 46911183 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr21:46911183delC ENST00000359759.4 + 21 3378 c.3357delC c.(3355-3357)ggfs p.G1119fs COL18A1_ENST00000355480.5_Frame_Shift_Del_p.G884fs|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.G704fs P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1119 Triple-helical region 4 (COL4). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GCCTCCCTGGCCCCCCCGGAC 0.692 7 365 --- --- --- --- CCT8L2 150160 broad.mit.edu 37 22 17071787 17071787 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:17071787delT ENST00000359963.3 - 1 1913 c.1654delA c.(1654-1656)tcfs p.I552fs NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 552 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AATCCAAGGATTTTTTTTGTT 0.408 9 770 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del 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) 8 166 --- --- --- --- TFIP11 24144 broad.mit.edu 37 22 26906183 26906185 + In_Frame_Del DEL TCA TCA - rs145794160 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 9 587 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 15 857 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:36689419_36689421delCCT ENST00000216181.5 - 30 4279_4281 c.4049_4051delAGG c.(4048-4053)gcc>g p.EA1350del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1350 E -> EE (in Ref. 7). 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 TTGTGCTTGGCCTCCTCCTCCTC 0.650 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 595 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42271637 42271637 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:42271637delC ENST00000361204.4 + 7 1461 c.1295delC c.(1294-1296)tcfs p.S432fs NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 432 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CTTCTGATGTCCCCCCCAGCC 0.522 7 877 --- --- --- --- SMDT1 91689 broad.mit.edu 37 22 42478046 42478048 + In_Frame_Del DEL GAT GAT - rs141840500 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 7 798 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec 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 20 697 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 18 507 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610948 42610948 + Frame_Shift_Del DEL G G - rs138734341 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:42610948delG ENST00000359486.3 - 1 500 c.364delC c.(364-366)agfs p.Q122fs TCF20_ENST00000335626.4_Frame_Shift_Del_p.Q122fs NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 122 Q -> R (in Ref. 1). 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 CTGCTCCCCTGGGGGGGTCCA 0.567 7 1210 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs 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 1373 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43218401 43218401 + Frame_Shift_Del DEL T T - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:43218401delT ENST00000263245.5 - 9 906 c.687delA c.(685-687)aafs p.K229fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 229 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 CCAAACTTCCTTTTTTGGCCC 0.423 7 1084 --- --- --- --- FRMPD4 9758 broad.mit.edu 37 X 12516889 12516889 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:12516889delC ENST00000380682.1 + 2 638 c.132delC c.(130-132)aafs p.N44fs NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 44 WW. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGACGGCAAACCGAGATGGGC 0.507 7 165 --- --- --- --- TAF1 6872 broad.mit.edu 37 X 70603000 70603000 + Frame_Shift_Del DEL A A - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:70603000delA ENST00000449580.1 + 12 1981 c.1930delA c.(1930-1932)aafs p.K646fs TAF1_ENST00000373790.4_Frame_Shift_Del_p.K646fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 646 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) AAAGCACATCAAAAAAAAGGC 0.408 7 194 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 9 214 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994639 140994641 + In_Frame_Del DEL CTC CTC - rs144357389 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:140994639_140994641delCTC ENST00000285879.4 + 4 1735_1737 c.1449_1451delCTC c.(1447-1452)agc>ag p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.473 HNSCC(15;0.026) 7 972 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 7 302 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del 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 9 544 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 13 438 --- --- --- ---