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 RP11-793H13.10 0 broad.mit.edu 37 12 53900854 53900854 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr12:53900854C>T ENST00000591834.1 - 12 1356 c.1307G>A c.(1306-1308)gGc>gAc p.G436D NPFF_ENST00000267017.3_Missense_Mutation_p.A59T CTCTCCATTGCCTGGAGCAGG 0.607000 4 220 0 0 1 0 0 C9orf114 51490 broad.mit.edu 37 9 131591140 131591140 + Splice_Site SNP C C A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:131591140C>A ENST00000361256.5 - 3 123 c.e3-1 NM_016390.3 NP_057474.2 Q5T280 CI114_HUMAN chromosome 9 open reading frame 114 kidney(2)|large_intestine(4)|ovary(1) 7 TCCTCTTTCTCTGGATAAAAG 0.522000 8 567 0.0381472 0.038434 1 1 0 GRM2 2912 broad.mit.edu 37 3 51743211 51743211 + Missense_Mutation SNP G G A rs144180122 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr3:51743211G>A ENST00000395052.3 + 2 446 c.212G>A c.(211-213)cGc>cAc p.R71H GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R71H NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 71 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCACTGGACCGCATCAACCGT 0.632000 6 581 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 6 62 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515257 102515257 + RNA SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr15:102515257C>T ENST00000557932.1 + 0 1103 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 CTCCGGTGGCCGGGCCACTCT 0.647000 9 505 0 0 1 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 4 184 0 0 1 0 0 MVP 9961 broad.mit.edu 37 16 29855904 29855904 + Silent SNP C C A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr16:29855904C>A ENST00000357402.5 + 11 1863 c.1725C>A c.(1723-1725)atC>atA p.I575I MVP_ENST00000395353.1_Silent_p.I575I NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 575 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GCAAAGCCATCGCATCCCGGG 0.552000 5 553 0.000602214 0.000616006 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 54 0 0 1 0 0 ANKS6 203286 broad.mit.edu 37 9 101552411 101552411 + Silent SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:101552411C>T ENST00000353234.4 - 2 884 c.837G>A c.(835-837)ccG>ccA p.P279P ANKS6_ENST00000375018.1_Silent_p.P279P|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_Silent_p.P84P|ANKS6_ENST00000471846.1_5'UTR Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 279 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) CGGTGGTCAGCGGGTCCAGGT 0.587000 6 372 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135975735 135975735 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:135975735C>T ENST00000393160.3 - 17 2677 c.2324G>A c.(2323-2325)cGc>cAc p.R775H RALGDS_ENST00000372062.3_Missense_Mutation_p.R801H|RALGDS_ENST00000372047.3_Missense_Mutation_p.R818H|RALGDS_ENST00000393157.3_Missense_Mutation_p.R829H|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.R901H|RALGDS_ENST00000372050.3_Missense_Mutation_p.R830H NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 830 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CATGGCCTTGCGGATTACAGC 0.592000 T CIITA """PMBL, Hodgkin Lymphona, """ 6 720 0 0 1 0 0 GPR42 2866 broad.mit.edu 37 19 35863074 35863074 + Silent SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr19:35863074C>T ENST00000454971.1 + 2 1014 c.813C>T c.(811-813)gtC>gtT p.V271V GPR42_ENST00000597214.1_Silent_p.V271V G protein-coupled receptor 42 (gene/pseudogene) endometrium(1)|kidney(1)|skin(2) 4 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) ACTCCTGTGTCGACCCCTTTG 0.582000 7 439 0 0 1 0 0 SLC29A4 222962 broad.mit.edu 37 7 5338650 5338650 + Missense_Mutation SNP A A G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr7:5338650A>G ENST00000396872.2 + 8 1075 c.914A>G c.(913-915)gAg>gGg p.E305G SLC29A4_ENST00000297195.4_Missense_Mutation_p.E305G|SLC29A4_ENST00000406453.3_Missense_Mutation_p.E291G NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 305 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GCCCCCAACGAGTCCCCAAAG 0.692000 7 142 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 6 285 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 21 406 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61511322 61511322 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr20:61511322C>T ENST00000266070.4 - 16 6311 c.5986G>A c.(5986-5988)Gca>Aca p.A1996T DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1996 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GAAAAGGGTGCGGACCCCCGT 0.597000 7 971 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6202537 6202537 + Silent SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:6202537G>A ENST00000262450.3 - 14 2271 c.2172C>T c.(2170-2172)gcC>gcT p.A724A CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 724 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCATCTCATCGGCCAGGATGG 0.647000 5 210 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 215 0 0 1 0 0 POMT1 10585 broad.mit.edu 37 9 134393890 134393890 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:134393890G>A ENST00000423007.1 + 14 1773 c.1331G>A c.(1330-1332)cGc>cAc p.R444H POMT1_ENST00000372228.3_Missense_Mutation_p.R466H|POMT1_ENST00000419118.2_Missense_Mutation_p.R292H|POMT1_ENST00000541219.1_Missense_Mutation_p.R222H|POMT1_ENST00000354713.4_Missense_Mutation_p.R414H|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.R444H|POMT1_ENST00000404875.2_Missense_Mutation_p.R327H|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000341012.7_Missense_Mutation_p.R390H NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 466 MIR 2. multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) TCAGAGGTCCGCTTTGTGCAC 0.493000 8 1172 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25464666 25464666 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr10:25464666C>T ENST00000376351.3 + 1 676 c.317C>T c.(316-318)gCg>gTg p.A106V GPR158-AS1_ENST00000449643.1_RNA NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 106 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TACGAGTTGGCGGGCCTGCCG 0.667000 5 265 0 0 1 0 0 CHMP2A 27243 broad.mit.edu 37 19 59063736 59063736 + Missense_Mutation SNP G G A rs146786448 TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr19:59063736G>A ENST00000600118.1 - 2 663 c.238C>T c.(238-240)Cgg>Tgg p.R80W CHMP2A_ENST00000601220.1_Missense_Mutation_p.R80W|CHMP2A_ENST00000312547.2_Missense_Mutation_p.R80W O43633 CHM2A_HUMAN charged multivesicular body protein 2A 80 Interaction with VPS4B. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 7 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) ATGTTGGCCCGCATCAATACA 0.537000 6 533 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5140323 5140323 + Silent SNP A A G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr16:5140323A>G ENST00000427587.4 - 6 572 c.504T>C c.(502-504)gcT>gcC p.A168A FAM86A_ENST00000587133.1_Silent_p.A107A|FAM86A_ENST00000458008.4_Silent_p.A134A NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 168 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 CTGTGAGGCCAGCACCACTGC 0.657000 6 222 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A A G rs74740601 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:33520358A>G ENST00000297307.5 - 1 1054 c.969T>C c.(967-969)atT>atC p.I323I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 323 DUF6 2. integral to membrane p.I323I(1) TCTGGGCTGTAATGATGGCAA 0.547000 6 298 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99654964 99654964 + Missense_Mutation SNP G G T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr7:99654964G>T ENST00000292450.4 + 2 499 c.335G>T c.(334-336)aGc>aTc p.S112I ZSCAN21_ENST00000456748.2_Missense_Mutation_p.S112I|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.S112I|ZSCAN21_ENST00000477297.1_3'UTR NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 112 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TGCCCGGAGAGCGCTGAAGAG 0.587000 6 300 0.00198382 0.00201388 1 1 0 LIMA1 51474 broad.mit.edu 37 12 50571413 50571413 + Missense_Mutation SNP C C A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr12:50571413C>A ENST00000547825.1 - 5 2077 c.808G>T c.(808-810)Gat>Tat p.D270Y LIMA1_ENST00000552491.1_Missense_Mutation_p.D269Y|LIMA1_ENST00000552783.1_Missense_Mutation_p.D413Y|LIMA1_ENST00000552823.1_Missense_Mutation_p.D412Y|LIMA1_ENST00000552909.1_Missense_Mutation_p.D411Y|LIMA1_ENST00000341247.4_Missense_Mutation_p.D572Y|LIMA1_ENST00000394943.3_Missense_Mutation_p.D573Y NM_001243775.1 NP_001230704.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 572 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 AGATCTAGATCGACATCCTCA 0.483000 10 523 6.40141e-05 6.75424e-05 1 1 0 SON 6651 broad.mit.edu 37 21 34923934 34923934 + Silent SNP T T C rs142825273 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr21:34923934T>C ENST00000356577.4 + 3 2872 c.2397T>C c.(2395-2397)agT>agC p.S799S SON_ENST00000381679.4_Silent_p.S799S|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.S799S|SON_ENST00000300278.4_Silent_p.S799S NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 799 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding p.S799S(4) breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TAGCAACCAGTTCCATGGACT 0.507000 7 901 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790026 248790026 + Missense_Mutation SNP C C T rs150548690 TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:248790026C>T ENST00000330803.2 - 1 465 c.404G>A c.(403-405)cGc>cAc p.R135H NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACACTTCTTGCGGTTCATCAG 0.547000 5 254 0 0 1 0 0 RDX 5962 broad.mit.edu 37 11 110103968 110103968 + Silent SNP T T C TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:110103968T>C ENST00000343115.4 - 13 1900 c.1581A>G c.(1579-1581)caA>caG p.Q527Q RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Silent_p.Q391Q|RDX_ENST00000528498.1_Silent_p.Q527Q|RDX_ENST00000405097.1_Silent_p.Q527Q|RDX_ENST00000528900.1_Silent_p.Q180Q NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 527 actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) ATACCTGAAGTTGCTTCTTAA 0.338000 9 488 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 5 177 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 6 330 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 232 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 16 110 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752097 36752097 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:36752097G>A ENST00000354618.5 + 4 490 c.266G>A c.(265-267)cGt>cAt p.R89H THRAP3_ENST00000469141.2_Missense_Mutation_p.R89H NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 89 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTCCGTGGGCGTAACAGAGGC 0.478000 T USP6 aneurysmal bone cysts 6 386 0 0 1 0 0 KRTAP5-2 440021 broad.mit.edu 37 11 1619378 1619378 + Missense_Mutation SNP G G A rs138454470 byFrequency TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:1619378G>A ENST00000412090.1 - 1 146 c.103C>T c.(103-105)Cgt>Tgt p.R35C KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 35 keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CAGCCCCCACGGCCGGAGCCA 0.687000 9 283 0 0 1 0 0 IPPK 64768 broad.mit.edu 37 9 95378166 95378166 + Missense_Mutation SNP G G A rs145881935 TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:95378166G>A ENST00000287996.3 - 13 1700 c.1424C>T c.(1423-1425)tCg>tTg p.S475L IPPK_ENST00000486841.1_5'UTR|IPPK_ENST00000375522.1_Missense_Mutation_p.S147L|CENPP_ENST00000375587.3_3'UTR NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 475 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 GAACCGAGTCGACATCACGGC 0.453000 5 260 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(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 0.527000 T MLL ALL 7 230 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34923961 34923961 + Silent SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr21:34923961C>T ENST00000356577.4 + 3 2899 c.2424C>T c.(2422-2424)acC>acT p.T808T SON_ENST00000381679.4_Silent_p.T808T|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 808 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding p.T808T(2) breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TGTTAGCAACCAGCTCCATGG 0.512000 10 956 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274343 39274343 + Silent SNP A A G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:39274343A>G ENST00000391413.2 - 1 263 c.225T>C c.(223-225)tgT>tgC p.C75C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 75 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCTGGGGCGACAGCAGCTGG 0.657000 5 256 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 181 0.00024832 0.000257945 1 1 0 TMC4 147798 broad.mit.edu 37 19 54668257 54668257 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr19:54668257G>A ENST00000376591.4 - 7 1173 c.1042C>T c.(1042-1044)Cgg>Tgg p.R348W TMC4_ENST00000301187.4_Missense_Mutation_p.R342W NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 348 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGCAGCACCCGCACCAACCAA 0.682000 7 663 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 5 59 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389323 1389323 + Missense_Mutation SNP G G A rs71299249 byFrequency TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr4:1389323G>A ENST00000324803.4 + 1 3984 c.1024G>A c.(1024-1026)Gcc>Acc p.A342T NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 342 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGGAGTGCCCGCCTGCTCACA 0.667000 9 1155 0 0 1 0 0 PCDHB13 0 broad.mit.edu 37 5 140595249 140595249 + Silent SNP T T C rs144959109 byFrequency TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr5:140595249T>C ENST00000341948.4 + 1 1741 c.1554T>C c.(1552-1554)tcT>tcC p.S518S NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 518 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.S518S(1) NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTCAGGTCTCTGGACTACG 0.692000 5 580 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117707943 117707943 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:117707943C>T ENST00000276204.6 + 12 1425 c.1351C>T c.(1351-1353)Cat>Tat p.H451Y DOCK11_ENST00000276202.7_Missense_Mutation_p.H451Y Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 451 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 ATCTTACATTCATGGAATTGC 0.453000 5 402 0 0 1 0 0 C8orf82 414919 broad.mit.edu 37 8 145753118 145753118 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr8:145753118G>A ENST00000524821.1 - 3 474 c.259C>T c.(259-261)Cgc>Tgc p.R87C C8orf82_ENST00000313465.5_3'UTR Q6P1X6 CH082_HUMAN chromosome 8 open reading frame 82 87 endometrium(1)|urinary_tract(1) 2 GCCTCGTAGCGCCCGCTGCGG 0.682000 3 46 0 0 1 0 0 UXS1 80146 broad.mit.edu 37 2 106721288 106721288 + Silent SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr2:106721288G>A ENST00000283148.7 - 11 982 c.885C>T c.(883-885)taC>taT p.Y295Y UXS1_ENST00000409501.3_Silent_p.Y290Y|UXS1_ENST00000540130.1_Silent_p.Y233Y|UXS1_ENST00000428048.2_Silent_p.Y134Y|UXS1_ENST00000409032.1_Silent_p.Y122Y NM_001253875.1|NM_025076.4 NP_001240804.1|NP_079352.2 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 290 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 ACCCGGATCCGTATACCTGGA 0.552000 OREG0014864 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 508 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTTGCTGAGCCAGGCTGT 0.607000 16 732 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d 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 5 277 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50678363 50678363 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr10:50678363C>T ENST00000355832.5 - 18 3721 c.3643G>A c.(3643-3645)Gcc>Acc p.A1215T RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.A585T NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1215 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TCAAACTTGGCGTCTCTGCAA 0.443000 Direct reversal of damage;Nucleotide excision repair (NER) 6 1035 0 0 1 0 0 ZNF195 0 broad.mit.edu 37 11 3381273 3381273 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:3381273G>A ENST00000354599.6 - 4 853 c.749C>T c.(748-750)gCc>gTc p.A250V ZNF195_ENST00000526601.1_Missense_Mutation_p.A303V|ZNF195_ENST00000005082.9_Missense_Mutation_p.A299V|ZNF195_ENST00000343338.7_Missense_Mutation_p.A254V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.A254V|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000399602.4_Missense_Mutation_p.A322V NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) TTCCCCTCCGGCATAAATTCT 0.398000 5 509 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128200063 128200063 + Silent SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr3:128200063G>A ENST00000341105.2 - 6 1573 c.1242C>T c.(1240-1242)ttC>ttT p.F414F GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.F414F|GATA2_ENST00000430265.2_Silent_p.F400F NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 414 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) ACAGCTCCTCGAAGCACTCCG 0.577000 Mis AML(CML blast transformation) 7 370 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 5 259 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207422163 207422163 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr2:207422163C>T ENST00000264377.3 + 10 1274 c.946C>T c.(946-948)Cgc>Tgc p.R316C ADAM23_ENST00000374415.3_Missense_Mutation_p.R316C|ADAM23_ENST00000374416.1_Missense_Mutation_p.R316C NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 316 Peptidase M12B. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TAAGAAGCATCGCTCTTCTCA 0.378000 9 603 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48753771 48753771 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:48753771G>A ENST00000285238.8 + 23 3280 c.3200G>A c.(3199-3201)cGc>cAc p.R1067H NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1067 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCATCAGGCCGCATCCTGAAC 0.557000 6 768 0 0 1 0 0 GSTCD 79807 broad.mit.edu 37 4 106639104 106639104 + Missense_Mutation SNP A A T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr4:106639104A>T ENST00000515279.1 + 2 554 c.334A>T c.(334-336)Ata>Tta p.I112L GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.I112L|GSTCD_ENST00000394728.3_Missense_Mutation_p.I112L|GSTCD_ENST00000507281.1_Intron Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing 112 cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) ATTGAGACACATAATCCAGAA 0.418000 6 448 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61510917 61510917 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr20:61510917G>A ENST00000266070.4 - 16 6716 c.6391C>T c.(6391-6393)Cgg>Tgg p.R2131W DIDO1_ENST00000395343.1_Missense_Mutation_p.R2131W NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2131 Arg-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) tcccggggccggtcccagtcc 0.731000 4 270 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198095 170198095 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr3:170198095G>A ENST00000231706.4 - 7 2291 c.1976C>T c.(1975-1977)gCg>gTg p.A659V CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 659 integral to membrane amino acid transmembrane transporter activity p.A659V(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCACCAGACCGCAAACCGGAT 0.498000 5 406 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 5 166 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14262129 14262129 + Silent SNP A A C TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr19:14262129A>C ENST00000340736.6 - 24 4278 c.3981T>G c.(3979-3981)ggT>ggG p.G1327G LPHN1_ENST00000361434.3_Silent_p.G1322G|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1327 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCCGGTCAGCACCCCCGGGCC 0.716000 8 54 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86297307 86297307 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr2:86297307C>T ENST00000263857.6 - 13 2078 c.1700G>A c.(1699-1701)cGc>cAc p.R567H POLR1A_ENST00000409681.1_Missense_Mutation_p.R567H O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 567 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 AGGCAGGATGCGGGCACGGTG 0.572000 4 173 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99799476 99799476 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr7:99799476C>T ENST00000426455.1 + 22 2695 c.2288C>T c.(2287-2289)tCa>tTa p.S763L STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.S763L|STAG3_ENST00000394018.2_Missense_Mutation_p.S705L|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA Q9UJ98 STAG3_HUMAN stromal antigen 3 763 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATTTCTAAATCAGATGCTTCC 0.448000 11 519 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 12 523 1.5739e-10 1.68722e-10 1 1 0 TRBV6-8 0 broad.mit.edu 37 7 142124389 142124389 + RNA SNP T T C TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr7:142124389T>C ENST00000390376.2 - 0 88 CTTCAGGATGTGGAATTTTGG 0.522000 6 347 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144825409 144825409 + Missense_Mutation SNP G G A rs558823 TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:144825409G>A ENST00000440491.2 + 11 1361 c.1361G>A c.(1360-1362)gGt>gAt p.G454D NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 GACTCACTGGGTAGATGGTAT 0.493000 9 760 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 5 375 0 0 1 0 0 PHF5A 84844 broad.mit.edu 37 22 41856430 41856430 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr22:41856430C>T ENST00000216252.3 - 4 376 c.305G>A c.(304-306)cGc>cAc p.R102H NM_032758.3 NP_116147.1 Q7RTV0 PHF5A_HUMAN PHD finger protein 5A 102 nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent nuclear speck|U12-type spliceosomal complex|U2 snRNP DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(1) 4 GTATTTTTTGCGTTCATAGAA 0.488000 7 594 0 0 1 0 0 GARS 2617 broad.mit.edu 37 7 30656770 30656770 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr7:30656770G>A ENST00000389266.3 + 10 1476 c.1235G>A c.(1234-1236)cGc>cAc p.R412H NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 412 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity p.R412H(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TTCATTGGCCGCATCTACCTC 0.433000 6 441 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186050343 186050343 + Silent SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:186050343G>A ENST00000271588.4 + 56 8833 c.8604G>A c.(8602-8604)ccG>ccA p.P2868P HMCN1_ENST00000367492.2_Silent_p.P2868P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2868 Ig-like C2-type 27. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGTTAGTGCCGCCAATTATCA 0.423000 6 831 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190878646 190878646 + Nonsense_Mutation SNP G G T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr4:190878646G>T ENST00000226798.4 + 6 748 c.526G>T c.(526-528)Gaa>Taa p.E176* FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 176 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus p.E176*(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGGAGAAGAAGAAATGATCAA 0.373000 7 163 0.000157383 0.000164761 1 1 0 FOXP2 93986 broad.mit.edu 37 7 114269985 114269985 + Silent SNP A A G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr7:114269985A>G ENST00000393500.3 + 11 1117 c.297A>G c.(295-297)caA>caG p.Q99Q FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000393494.2_Silent_p.Q174Q|FOXP2_ENST00000393498.2_Silent_p.Q154Q O15409 FOXP2_HUMAN forkhead box P2 174 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.Q199Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 aacaacaacaacagcagcaac 0.502000 4 195 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520392 33520392 + Missense_Mutation SNP G G C TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:33520392G>C ENST00000297307.5 - 1 1020 c.935C>G c.(934-936)gCg>gGg p.A312G NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 312 DUF6 2. integral to membrane p.A312G(4) AACCCCTGCCGCCACGATGTC 0.567000 6 415 0 0 1 0 0 OR4D10 390197 broad.mit.edu 37 11 59245504 59245504 + Missense_Mutation SNP C C G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:59245504C>G ENST00000530162.1 + 1 659 c.602C>G c.(601-603)tCc>tGc p.S201C NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTAATGATTTCCAACAATGGA 0.468000 4 333 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274214 39274214 + Missense_Mutation SNP G G C TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:39274214G>C ENST00000391413.2 - 1 392 c.354C>G c.(352-354)agC>agG p.S118R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 118 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gtctgcagcagctggacacac 0.652000 6 169 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855452 53855452 + Silent SNP A A G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr19:53855452A>G ENST00000458035.1 + 4 1641 c.1524A>G c.(1522-1524)tcA>tcG p.S508S ZNF845_ENST00000595091.1_Silent_p.S508S NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 508 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTTTCAAATCAAACCTTGAAA 0.388000 5 182 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q O15409 FOXP2_HUMAN forkhead box P2 179 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.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 5 207 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33639869 33639869 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr6:33639869G>A ENST00000374316.5 + 23 3852 c.2792G>A c.(2791-2793)cGc>cAc p.R931H ITPR3_ENST00000605930.1_Missense_Mutation_p.R931H Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 931 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GTGCTGAGCCGCAAGCAGTCC 0.612000 5 225 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887343 155887343 + Nonsense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:155887343G>A ENST00000368320.3 - 11 1412 c.1387C>T c.(1387-1389)Cga>Tga p.R463* KIAA0907_ENST00000368321.3_Nonsense_Mutation_p.R463* Q7Z7F0 K0907_HUMAN KIAA0907 463 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TCTGTGAATCGTCTCTTCTGT 0.532000 6 555 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179404642 179404642 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr2:179404642C>T ENST00000589042.1 - 352 98374 c.98150G>A c.(98149-98151)aGg>aAg p.R32717K TTN_ENST00000591111.1_Missense_Mutation_p.R31076K|TTN_ENST00000342992.6_Missense_Mutation_p.R30149K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23844K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23777K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23652K|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31076 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R30147K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCACCTTGCCTTACAAAGAT 0.408000 5 482 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229722 7229722 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr6:7229722G>A ENST00000379938.2 + 10 1927 c.1390G>A c.(1390-1392)Gcc>Acc p.A464T RREB1_ENST00000334984.6_Missense_Mutation_p.A464T|RREB1_ENST00000379933.3_Missense_Mutation_p.A464T|RREB1_ENST00000349384.6_Missense_Mutation_p.A464T NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 464 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) TGGCGAGTCGGCCATCGAGCT 0.597000 5 575 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 6 412 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37001175 37001175 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr5:37001175C>T ENST00000282516.8 + 14 4158 c.3659C>T c.(3658-3660)gCg>gTg p.A1220V NIPBL_ENST00000448238.2_Missense_Mutation_p.A1220V NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1220 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding p.A1220V(4) autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GATTTTACTGCGTTTGGTAAA 0.333000 10 428 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135389698 135389698 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr5:135389698C>T ENST00000442011.2 + 9 1354 c.1193C>T c.(1192-1194)gCc>gTc p.A398V TGFBI_ENST00000305126.8_Missense_Mutation_p.A398V NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 398 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTCAGACAAGCCGGCCTCGGC 0.483000 7 489 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54591315 54591315 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr18:54591315C>T ENST00000254442.3 + 22 3900 c.3689C>T c.(3688-3690)gCc>gTc p.A1230V WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1230 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GAACTTTGTGCCGATGCCGAG 0.438000 6 537 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr21:11058353T>C 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) GAAATCTCTTTATAAAACCTT 0.343000 21 505 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 5 169 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869336 174869336 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr5:174869336G>A ENST00000393752.2 - 2 1759 c.767C>T c.(766-768)cCg>cTg p.P256L NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 256 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding p.P256L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AGAACTTTCCGGTTGAGAACA 0.478000 7 285 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 9 169 0 0 1 0 0 C17orf102 400591 broad.mit.edu 37 17 32905983 32905983 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:32905983G>A ENST00000357754.1 - 1 405 c.317C>T c.(316-318)gCg>gTg p.A106V NM_207454.2 NP_997337.2 A2RUQ5 CQ102_HUMAN chromosome 17 open reading frame 102 106 central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1) 9 GACCCATCCCGCACGAAGCTG 0.632000 6 543 0 0 1 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273385 145273385 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:145273385G>A ENST00000369340.3 + 4 683 c.239G>A c.(238-240)gGc>gAc p.G80D RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 80 EGF-like 3. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding p.G80D(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 CTGAATGGCGGCACATGCCAT 0.532000 7 1385 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131199279 131199279 + Nonsense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr6:131199279G>A ENST00000337057.3 - 14 2189 c.2008C>T c.(2008-2010)Cga>Tga p.R670* EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530757.1_Nonsense_Mutation_p.R69*|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.R670*|EPB41L2_ENST00000524581.1_Nonsense_Mutation_p.R48*|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 670 Spectrin--actin-binding. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) GTGATACGTCGTTTTTCCCAT 0.443000 7 319 0 0 1 0 0 C15orf54 400360 broad.mit.edu 37 15 39544396 39544396 + Silent SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr15:39544396G>A ENST00000318578.3 + 2 428 c.60G>A c.(58-60)ccG>ccA p.P20P RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 20 p.P20P(1) NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) GGGCTGAGCCGCAAAGAATTT 0.468000 6 938 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144825416 144825416 + Missense_Mutation SNP G G T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:144825416G>T ENST00000440491.2 + 11 1368 c.1368G>T c.(1366-1368)tgG>tgT p.W456C NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TGGGTAGATGGTATTCGACTC 0.498000 9 813 0.000274275 0.000282714 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 8 324 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5974198 5974198 + Nonsense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr20:5974198C>T ENST00000378896.3 + 18 2664 c.2287C>T c.(2287-2289)Cga>Tga p.R763* MCM8_ENST00000265187.4_Nonsense_Mutation_p.R747*|MCM8_ENST00000378883.1_Nonsense_Mutation_p.R716*|MCM8_ENST00000378886.2_Nonsense_Mutation_p.R803* NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 763 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 AGATTTTGAGCGATCCCAGCA 0.363000 5 455 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90604777 90604777 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr6:90604777C>T ENST00000369352.1 + 1 590 c.590C>T c.(589-591)gCg>gTg p.A197V NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 197 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TGCCCCAATGCGGTGGATTGC 0.423000 7 871 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76111993 76111993 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr7:76111993C>T ENST00000324432.5 + 5 947 c.437C>T c.(436-438)gCc>gTc p.A146V DTX2_ENST00000446820.2_Missense_Mutation_p.A146V|DTX2_ENST00000430490.2_Missense_Mutation_p.A146V|DTX2_ENST00000413936.2_Missense_Mutation_p.A146V|DTX2_ENST00000446600.1_Missense_Mutation_p.A55V|DTX2_ENST00000307569.8_Missense_Mutation_p.A146V NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 146 WWE 2. 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 GTGGACTTGGCCCCCCTGGGG 0.627000 4 150 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1499945 1499945 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:1499945G>A ENST00000331035.4 + 11 1359 c.1010G>A c.(1009-1011)cGc>cAc p.R337H IL3RA_ENST00000381469.2_Missense_Mutation_p.R259H NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 337 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CTCTTTCCCCGCATCCCTCAC 0.542000 8 1347 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385626 33385626 + Missense_Mutation SNP G G A rs149760238 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:33385626G>A ENST00000537089.1 - 6 806 c.488C>T c.(487-489)cCa>cTa p.P163L AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L|AQP7_ENST00000541274.1_Silent_p.P123P O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) TCAAAGGAATGGGCCTGGGCA 0.622000 5 355 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584253 138584253 + Missense_Mutation SNP A A G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr6:138584253A>G ENST00000251691.4 + 12 1799 c.1633A>G c.(1633-1635)Aag>Gag p.K545E NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 545 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CCCAGAGGGTAAGGAGACGCT 0.547000 6 147 0 0 1 0 0 LILRA2 0 broad.mit.edu 37 19 55086932 55086932 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr19:55086932C>T ENST00000251377.3 + 6 998 c.865C>T c.(865-867)Cac>Tac p.H289Y LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.H289Y(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GAGCCCCTCCCACGGGGGCCA 0.647000 5 312 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43766225 43766225 + Missense_Mutation SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr19:43766225G>A ENST00000244293.7 - 3 562 c.496C>T c.(496-498)Cgc>Tgc p.R166C PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.R166C|PSG9_ENST00000270077.3_Missense_Mutation_p.R166C|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 166 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) CAGATTAAGCGCACAGCCTCC 0.532000 6 904 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6537680 6537680 + Silent SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:6537680C>T ENST00000377748.1 - 3 680 c.183G>A c.(181-183)cgG>cgA p.R61R PLEKHG5_ENST00000535355.1_Silent_p.R53R|PLEKHG5_ENST00000544978.1_5'UTR|PLEKHG5_ENST00000537245.1_Silent_p.R63R|PLEKHG5_ENST00000400913.1_5'UTR|PLEKHG5_ENST00000377725.1_5'UTR|PLEKHG5_ENST00000340850.5_5'UTR|PLEKHG5_ENST00000400915.3_Silent_p.R40R|PLEKHG5_ENST00000377732.1_Silent_p.R21R|PLEKHG5_ENST00000377737.2_5'UTR|PLEKHG5_ENST00000377740.3_Silent_p.R61R|PLEKHG5_ENST00000377728.3_5'UTR NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 40 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) TGAGGGGCCCCCGGCGGTGCA 0.632000 7 377 0 0 1 0 0 CNPY2 10330 broad.mit.edu 37 12 56704996 56704996 + Splice_Site SNP G G A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr12:56704996G>A ENST00000273308.4 - 4 947 c.408_splice c.e4+1 p.A136_splice RP11-977G19.10_ENST00000549318.1_Splice_Site_p.A136_splice|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA NM_014255.5 NP_055070.1 Q9Y2B0 CNPY2_HUMAN canopy FGF signaling regulator 2 136 Saposin B-type. endoplasmic reticulum|integral to plasma membrane protein binding large_intestine(2)|lung(2) 4 ATAGCTCACCGCAAACTTGAG 0.483000 6 842 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 169 0 0 1 0 0 NR3C2 0 broad.mit.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr4:149075976T>G ENST00000355292.3 - 5 2465 c.2103A>C c.(2101-2103)ccA>ccC p.P701P NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000511528.1_Silent_p.P701P P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 697 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ggggtgggggtgggggtgggg 0.527000 7 60 0 0 1 0 0 VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 7 554 --- --- --- --- RERE 473 broad.mit.edu 37 1 8716284 8716285 + Frame_Shift_Del DEL TC TC - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:8716284_8716285delTC ENST00000337907.3 - 3 706_707 c.72_73delGA c.(70-75)gaaafs p.EK24fs RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 24 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TTGTCTCTTTTCtctctctctc 0.505 12 666 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 7 442 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 8 641 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39788668 39788670 + In_Frame_Del DEL GGA GGA - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:39788668_39788670delGGA ENST00000564288.1 + 33 5001_5003 c.4224_4226delGGA c.(4222-4227)ctg>ct p.LE1408del MACF1_ENST00000317713.7_In_Frame_Del_p.LE1413del|MACF1_ENST00000539005.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000545844.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000567887.1_In_Frame_Del_p.LE1445del|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_In_Frame_Del_p.LE1413del|MACF1_ENST00000372915.3_In_Frame_Del_p.LE1413del Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1413 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCCGGCGTCTGGAGGAGGAGGAG 0.493 8 510 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 12 797 --- --- --- --- CCDC18 343099 broad.mit.edu 37 1 93667515 93667516 + Frame_Shift_Ins INS - - A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:93667515_93667516insA ENST00000343253.7 + 7 1267_1268 c.765_766insA c.(763-768)taaaaafs p.*K255fs CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.*K373fs|CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.*K54fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.*K255fs Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 255 p.V377fs*15(1) breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TCCAACAATATAAAAAAAAAGT 0.317 7 229 --- --- --- --- KCND3 3752 broad.mit.edu 37 1 112524444 112524445 + Frame_Shift_Ins INS - - G TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:112524444_112524445insG ENST00000369697.1 - 1 973_974 c.904_905insC c.(904-906)ccafs p.P302fs KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 302 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CTGGGAGTGGCGGGAAAACTTG 0.579 7 327 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 10 417 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 11 382 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:154680586_154680588delGCT ENST00000271915.3 - 8 2375_2377 c.2060_2062delAGC c.(2059-2064)ctc>c p.QL687del KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|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 12 560 --- --- --- --- PIK3C2B 5287 broad.mit.edu 37 1 204438072 204438072 + Frame_Shift_Del DEL G G - rs115574296 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:204438072delG ENST00000367187.3 - 3 1415 c.859delC c.(859-861)gcfs p.R287fs PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 287 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R287fs*92(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCATAGGTGCGGGGGGGCACC 0.622 7 530 --- --- --- --- EPHX1 2052 broad.mit.edu 37 1 226026384 226026384 + Frame_Shift_Del DEL C C - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:226026384delC ENST00000366837.4 + 4 590 c.394delC c.(394-396)ccfs p.P133fs EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 133 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CCACGTGAAGCCCCCCCAGCT 0.627 7 693 --- --- --- --- TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG CTG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr1:226034840_226034842delCTG ENST00000366835.3 - 24 2593_2595 c.2323_2325delCAG c.(2323-2325)del p.Q775del NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 775 integral to membrane|lysosomal membrane nucleotide binding p.Q775delQ(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 15 743 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_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 7 251 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 8 719 --- --- --- --- WDR33 55339 broad.mit.edu 37 2 128476956 128476956 + Frame_Shift_Del DEL G G - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr2:128476956delG ENST00000322313.4 - 16 2801 c.2643delC c.(2641-2643)ccfs p.P881fs NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 881 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CCTGAGGTCCGGGGGGTCCTT 0.627 7 489 --- --- --- --- ACVR2A 92 broad.mit.edu 37 2 148657040 148657041 + Frame_Shift_Ins INS - - A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr2:148657040_148657041insA ENST00000241416.7 + 3 913_914 c.277_278insA c.(277-279)aaafs p.K93fs ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K93fs NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 93 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TGATTGTGTAGAAAAAAAAGAC 0.302 11 405 --- --- --- --- PDCD6IP 10015 broad.mit.edu 37 3 33866811 33866811 + Frame_Shift_Del DEL T T - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr3:33866811delT ENST00000307296.3 + 5 972 c.595delT c.(595-597)ttfs p.F200fs PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 200 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TCAAGAAGTATTTTTTTTAAA 0.368 9 486 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 12 352 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 7 1163 --- --- --- --- RBPJ 3516 broad.mit.edu 37 4 26417145 26417146 + Frame_Shift_Ins INS - - A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr4:26417145_26417146insA ENST00000342320.4 + 4 377_378 c.201_202insA c.(199-204)aaaaaafs p.KK67fs RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.KK68fs|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.KK46fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.KK66fs Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 81 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) GTGGATGGAAGAAAAAAAAAGA 0.371 13 567 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 10 544 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d 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 7 226 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGAGGTGGCGgctgctgctgctg 0.586 8 210 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186515044 186515044 + Frame_Shift_Del DEL C C - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr4:186515044delC ENST00000431808.1 - 20 3693 c.3130delG c.(3130-3132)aafs p.E1044fs SORBS2_ENST00000448662.2_Frame_Shift_Del_p.E605fs|SORBS2_ENST00000355634.5_Frame_Shift_Del_p.E1144fs|SORBS2_ENST00000437304.2_Frame_Shift_Del_p.E768fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000418609.1_Frame_Shift_Del_p.E948fs|SORBS2_ENST00000319471.9_Frame_Shift_Del_p.E675fs|SORBS2_ENST00000284776.7_Frame_Shift_Del_p.E1044fs|SORBS2_ENST00000393528.3_Frame_Shift_Del_p.E610fs|SORBS2_ENST00000449407.2_Frame_Shift_Del_p.E588fs O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 1044 SH3 3. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.E1044fs*8(2)|p.E605fs*8(2) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ACTTACGGTTCCCCCCCACCT 0.358 10 704 --- --- --- --- PCDHB13 0 broad.mit.edu 37 5 140595172 140595172 + Frame_Shift_Del DEL C C - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr5:140595172delC ENST00000341948.4 + 1 1664 c.1477delC c.(1477-1479)ccfs p.P493fs NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 493 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGCTGCCGCCCCAGGACCC 0.667 7 713 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145886722 145886723 + Frame_Shift_Ins INS - - A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr5:145886722_145886723insA ENST00000296702.5 + 19 2900_2901 c.2862_2863insA c.(2860-2865)acaaaafs p.TK954fs TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.TK933fs NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 954 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGCACTTACCAAAAAAAAGAG 0.376 9 504 --- --- --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr6:25921520delT ENST00000377850.3 - 4 885 c.361delA c.(361-363)tgfs p.M121fs SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN solute carrier family 17, member 2 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.M121fs*7(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCACCAAGCATTTTTTTTGCT 0.453 9 363 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d 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 8 127 --- --- --- --- CD2AP 23607 broad.mit.edu 37 6 47576961 47576961 + Frame_Shift_Del DEL A A - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr6:47576961delA ENST00000359314.5 + 16 2191 c.1735delA c.(1735-1737)aafs p.K580fs CD2AP_ENST00000486693.1_3'UTR NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 580 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) AGATGATGTGAAAAAAAATTC 0.388 7 444 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr6:131191073_131191075delCTG ENST00000337057.3 - 15 2416_2418 c.2235_2237delCAG c.(2233-2238)agt>ag p.SS745del EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000528282.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 745 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCACTCTCACTGCTGCTGCTGC 0.562 8 335 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 9 419 --- --- --- --- CDK5 1020 broad.mit.edu 37 7 150754217 150754217 + Frame_Shift_Del DEL T T - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr7:150754217delT ENST00000485972.1 - 2 749 c.68delA c.(67-69)acfs p.N23fs CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 23 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) AGTCTCCCGGTTTTTGGCCTT 0.582 7 940 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 11 598 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145006627 145006629 + In_Frame_Del DEL CCT CCT - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr8:145006627_145006629delCCT ENST00000322810.4 - 16 2496_2498 c.2327_2329delAGG c.(2326-2331)gtg>g p.EV776del PLEC_ENST00000356346.3_In_Frame_Del_p.EV625del|PLEC_ENST00000357649.2_In_Frame_Del_p.EV643del|PLEC_ENST00000345136.3_In_Frame_Del_p.EV639del|PLEC_ENST00000354958.2_In_Frame_Del_p.EV617del|PLEC_ENST00000354589.3_In_Frame_Del_p.EV639del|PLEC_ENST00000436759.2_In_Frame_Del_p.EV666del|PLEC_ENST00000398774.2_In_Frame_Del_p.EV607del|PLEC_ENST00000527096.1_In_Frame_Del_p.EV662del NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 776 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCGAAGCCCACCTCCTCCTCCTC 0.621 7 640 --- --- --- --- RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:41962602delG ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373 11 413 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 7 465 --- --- --- --- MIRLET7DHG 0 broad.mit.edu 37 9 96941099 96941100 + RNA INS - - A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:96941099_96941100insA ENST00000416309.2 - 0 164 RP11-2B6.3_ENST00000602703.1_lincRNA NR_046163.1 AGACCAGCAAGAAAAAAAAAAT 0.376 8 224 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 16 52 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 13 253 --- --- --- --- WDR5 11091 broad.mit.edu 37 9 137019598 137019598 + Frame_Shift_Del DEL C C - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr9:137019598delC ENST00000358625.3 + 10 813 c.642delC c.(640-642)aafs p.N214fs WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs NM_017588.2 NP_060058.1 P61964 WDR5_HUMAN WD repeat domain 5 214 histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) ATGACGACAACCCCCCCGTGT 0.627 8 1734 --- --- --- --- AGAP7 653268 broad.mit.edu 37 10 51465346 51465346 + Frame_Shift_Del DEL G G - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr10:51465346delG ENST00000374095.5 - 7 1235 c.1110delC c.(1108-1110)ccfs p.P370fs NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 370 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 CATGAGGAGAGGGGGGCGGGT 0.527 7 572 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice|JMJD1C_ENST00000399251.1_3'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2025 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATGTTTACCTTTTTTTTCCT 0.373 7 376 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d 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 10 451 --- --- --- --- OVCH2 341277 broad.mit.edu 37 11 7720159 7720160 + RNA INS - - T rs71470493 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:7720159_7720160insT ENST00000454689.1 - 0 925 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GGCATAATGGCTGTAGGTGCTC 0.475 7 4 --- --- --- --- MYBPC3 4607 broad.mit.edu 37 11 47359101 47359103 + In_Frame_Del DEL TCT TCT - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:47359101_47359103delTCT ENST00000399249.2 - 24 2495_2497 c.2441_2443delAGA c.(2440-2445)agc>a p.KS814del MYBPC3_ENST00000545968.1_In_Frame_Del_p.KS814del|MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 813 Fibronectin type-III 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CACCGGTAGCTCTTCTTCTTCTT 0.601 7 307 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:58892377delA ENST00000343597.3 + 4 998 c.807delA c.(805-807)tcfs p.S269fs FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 269 catalytic activity p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TGGACATTTCAAAAAAAAAAG 0.313 16 190 --- --- --- --- CTD-2313N18.8 0 broad.mit.edu 37 11 71574635 71574635 + RNA DEL A A - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:71574635delA ENST00000528518.1 + 0 168 GTAATGAAGGAAAAAAATGTA 0.428 7 960 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:89405323_89405326delTTTA ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aattatattgtttatttatttttg 0.230 7 10 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 9 334 --- --- --- --- IFT46 56912 broad.mit.edu 37 11 118427645 118427647 + In_Frame_Del DEL TCA TCA - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:118427645_118427647delTCA ENST00000264020.2 - 5 689_691 c.312_314delTGA c.(310-315)gaa>ga p.DE104del IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del|IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 53 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 TCCATGCTCTTCATCATCATCAT 0.473 8 969 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124745490 124745491 + Frame_Shift_Ins INS - - G rs140619532 by1000genomes TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr11:124745490_124745491insG ENST00000397801.1 + 15 2522_2523 c.2330_2331insG c.(2329-2331)ggcfs p.G777fs ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 777 Fibronectin type-III 3. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GGAGTGGCGGTGGCCTTGGGGG 0.604 7 156 --- --- --- --- FOXJ2 55810 broad.mit.edu 37 12 8200558 8200560 + In_Frame_Del DEL CAG CAG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr12:8200558_8200560delCAG ENST00000162391.3 + 7 2043_2045 c.898_900delCAG c.(898-900)del p.Q306del FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 306 Poly-Gln. embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) gccacctcaacagcagcagcagc 0.640 10 155 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del 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) ACTTCGGGACTTGTTGTCTCCTT 0.596 8 1124 --- --- --- --- SLCO1B3 28234 broad.mit.edu 37 12 21028267 21028267 + Frame_Shift_Del DEL T T - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr12:21028267delT ENST00000381545.3 + 9 1045 c.826delT c.(826-828)ttfs p.F278fs SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 278 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TTCCATACCATTTTTTTTCTT 0.363 7 322 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 17 433 --- --- --- --- KIAA1551 55196 broad.mit.edu 37 12 32134718 32134720 + In_Frame_Del DEL CCT CCT - rs79406084 byFrequency TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr12:32134718_32134720delCCT ENST00000312561.4 + 4 1243_1245 c.829_831delCCT c.(829-831)del p.P281del KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 TGACAAAAGACCTCCTCCTCCTC 0.414 9 516 --- --- --- --- MYO1A 4640 broad.mit.edu 37 12 57422572 57422573 + Frame_Shift_Ins INS - - T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr12:57422572_57422573insT ENST00000442789.2 - 29 3385_3386 c.3098_3099insA c.(3097-3099)aggfs p.R1033fs MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1033 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.?(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AATGACTCCCCTTTTTTTTGTA 0.559 16 535 --- --- --- --- XPOT 11260 broad.mit.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr12:64812755delT ENST00000332707.5 + 6 899 c.370delT c.(370-372)ttfs p.F126fs NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 126 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.F126fs*6(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GTGGCCCAAGTTTTTTTTTGA 0.443 9 373 --- --- --- --- ERCC5 2073 broad.mit.edu 37 13 103524612 103524612 + Frame_Shift_Del DEL A A - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr13:103524612delA ENST00000355739.4 + 13 4166 c.2743delA c.(2743-2745)aafs p.K917fs ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CACCAAAGTGAAAAAAAAATT 0.428 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 8 225 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25232008 25232015 + RNA DEL CGTGTGTG CGTGTGTG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr15:25232008_25232015delCGTGTGTG ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 cgtgtgtgcacgtgtgtgcgtgtgtgca 0.433 9 101 --- --- --- --- BUB1B 701 broad.mit.edu 37 15 40512872 40512872 + Frame_Shift_Del DEL T T - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr15:40512872delT ENST00000287598.6 + 23 3260 c.3065delT c.(3064-3066)gtfs p.V1022fs RP11-133K1.2_ENST00000558658.1_Intron|BUB1B_ENST00000412359.3_Frame_Shift_Del_p.V1036fs|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 1022 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) ATGAATGGGGTTTTTGACACT 0.448 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 7 846 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 8 366 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 8 347 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7751859 7751861 + In_Frame_Del DEL CAC CAC - rs59627144 TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:7751859_7751861delCAC ENST00000254846.5 + 11 2642_2644 c.2253_2255delCAC c.(2251-2256)gtc>gt p.VT751del KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 751 Pro-rich.|Thr-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGTCGCCGTcaccaccaccacc 0.650 7 153 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 8 261 --- --- --- --- HOXB3 3213 broad.mit.edu 37 17 46629396 46629396 + Frame_Shift_Del DEL G G - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:46629396delG ENST00000470495.1 - 1 1888 c.441delC c.(439-441)ccfs p.P147fs HOXB3_ENST00000485909.2_Frame_Shift_Del_p.P15fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.P74fs|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.P147fs|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.P147fs|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.P15fs|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.P74fs|HOXB3_ENST00000311626.4_Frame_Shift_Del_p.P147fs P14651 HXB3_HUMAN homeobox B3 147 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 TACCTGTGCCGGGGGAGTTGT 0.572 7 1935 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 11 296 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 11 331 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 209 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 9 510 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 11 5 --- --- --- --- SBSN 374897 broad.mit.edu 37 19 36019046 36019047 + Frame_Shift_Del DEL CT CT - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr19:36019046_36019047delCT ENST00000452271.2 - 1 165_166 c.137_138delAG c.(136-138)gfs p.E46fs SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 46 extracellular region p.E46fs*27(1) 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) CCTTGCCCACCTCTCTCTCTGC 0.579 7 652 --- --- --- --- ZNF570 148268 broad.mit.edu 37 19 37976034 37976034 + Frame_Shift_Del DEL A A - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr19:37976034delA ENST00000330173.1 + 5 2039 c.1510delA c.(1510-1512)aafs p.K505fs ZNF570_ENST00000586475.1_Frame_Shift_Del_p.K561fs|ZNF570_ENST00000388801.3_Frame_Shift_Del_p.K302fs NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAAGGAATGCAAAAAAACCTT 0.448 7 300 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ccc>c p.LP8del SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 13 282 --- --- --- --- GINS1 9837 broad.mit.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr20:25422397delA ENST00000262460.4 + 6 601 c.507delA c.(505-507)ttfs p.L169fs GINS1_ENST00000429262.2_3'UTR NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) 169 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm p.N172fs*14(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 CAGTCCTATTAAAAAAAAATA 0.299 10 347 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 7 193 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 8 277 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chr22:38120029_38120031delCCT ENST00000406386.3 + 7 1721_1723 c.1466_1468delCCT c.(1465-1470)gcc>g p.AS489del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 489 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 13 472 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 9 144 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:70360680_70360682delGCA ENST00000333646.6 + 42 6448_6450 c.6249_6251delGCA c.(6247-6252)cgg>cg p.RQ2083del MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2080 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) accacatccggcagcagcagcag 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 11 168 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 8 518 --- --- --- --- XIST 0 broad.mit.edu 37 X 73072090 73072091 + RNA INS - - A TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:73072090_73072091insA ENST00000429829.1 - 0 497_498 NR_001564.2 ATGGGCTAAGGAAAAAAAAATA 0.465 7 108 --- --- --- --- NAP1L3 4675 broad.mit.edu 37 X 92928153 92928155 + In_Frame_Del DEL TGC TGC - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:92928153_92928155delTGC ENST00000373079.3 - 1 412_414 c.149_151delGCA c.(148-153)act>a p.ST50del NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 50 Ser-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 ctgccactagtgctgctgctgct 0.586 7 209 --- --- --- --- RNF128 79589 broad.mit.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:105937256delT ENST00000324342.3 + 1 189 c.24delT c.(22-24)agfs p.S8fs NM_024539.3 NP_078815.3 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 0 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 ATAGGTCCAGTTTTTTTTGGC 0.343 8 296 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d 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 12 291 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:140994844_140994846delCCT ENST00000285879.4 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)del p.P553del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 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) TCCTCAGAGCCCTCCTCAGGGGG 0.567 HNSCC(15;0.026) 7 1512 --- --- --- --- AFF2 2334 broad.mit.edu 37 X 147733548 147733548 + Frame_Shift_Del DEL A A - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:147733548delA ENST00000370460.2 + 2 555 c.76delA c.(76-78)aafs p.K27fs AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 27 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TAGTGCACTTAAAAAAAGGGA 0.378 7 870 --- --- --- --- HMGB3 3149 broad.mit.edu 37 X 150156358 150156360 + In_Frame_Del DEL GAG GAG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d g.chrX:150156358_150156360delGAG ENST00000325307.7 + 5 670_672 c.574_576delGAG c.(574-576)del p.E198del HMGB3_ENST00000448905.2_In_Frame_Del_p.E198del NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 198 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) ggaggaagaagaggaggaggagg 0.443 7 431 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b82551-19a9-435d-b420-7c448db08d5d eebbcbda-eed1-495d-bc20-ec66ba13f07d 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 13 555 --- --- --- ---