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 SPIN2B 474343 broad.mit.edu 37 X 57146293 57146293 + Missense_Mutation SNP T T G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chrX:57146293T>G ENST00000333933.3 - 2 1080 c.770A>C c.(769-771)aAg>aCg p.K257T SPIN2B_ENST00000374910.3_Missense_Mutation_p.K156T|SPIN2B_ENST00000275988.5_Missense_Mutation_p.K257T|SPIN2B_ENST00000374912.5_Missense_Mutation_p.K257T|SPIN2B_ENST00000460948.1_Intron NM_001006681.1 NP_001006682.1 Q9BPZ2 SPI2B_HUMAN spindlin family, member 2B 257 apoptosis|cell cycle|gamete generation nucleus endometrium(3)|large_intestine(1)|skin(1) 5 CAGTTAGGACTTTTTCACCAA 0.368000 8 346 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 9 327 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78474328 78474328 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr15:78474328C>T ENST00000258873.4 - 8 1259 c.1054G>A c.(1054-1056)Gaa>Aaa p.E352K ACSBG1_ENST00000560817.1_Missense_Mutation_p.E110K|ACSBG1_ENST00000541759.1_Missense_Mutation_p.E110K NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 352 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 GCGTCGGGTTCGGCAAAGCAA 0.617000 8 265 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126133548 126133548 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr9:126133548G>A ENST00000373631.3 + 8 2128 c.2127G>A c.(2125-2127)gtG>gtA p.V709V CRB2_ENST00000373629.2_Silent_p.V377V|CRB2_ENST00000359999.3_Silent_p.V709V NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 709 Laminin G-like 2. V -> A (in dbSNP:rs2488602). extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GGGCTGAGGTGCCGGGCAGTC 0.647000 7 750 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083776 17083776 + RNA SNP C C A rs56318124 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:17083776C>A ENST00000455405.2 - 0 812 p.R674L(1) CACAGAGACACGCGTGAAGAC 0.537000 7 218 1.5739e-10 1.68813e-10 1 1 0 SH3TC2 79628 broad.mit.edu 37 5 148407193 148407193 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr5:148407193G>A ENST00000538184.1 - 7 1631 c.743C>T c.(742-744)gCc>gTc p.A248V SH3TC2_ENST00000512049.1_Missense_Mutation_p.A694V|SH3TC2_ENST00000515425.1_Missense_Mutation_p.A701V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A586V Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 701 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCCTTGGGCACTCTGGAT 0.522000 9 462 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143906 142143906 + RNA SNP G G C rs146728507 by1000genomes TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr7:142143906G>C ENST00000390373.2 - 0 89 TCTTCAGGACGTGGAATTTTG 0.527000 8 340 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110494891 110494891 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chrX:110494891C>T ENST00000324068.1 - 6 946 c.779G>A c.(778-780)cGc>cAc p.R260H CAPN6_ENST00000541758.1_Missense_Mutation_p.R5H NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 260 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 ACGAATTTTGCGAATATCAGT 0.468000 10 1536 0 0 1 0 0 IYD 389434 broad.mit.edu 37 6 150719206 150719206 + Missense_Mutation SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr6:150719206A>G ENST00000344419.3 + 5 843 c.703A>G c.(703-705)Act>Gct p.T235A IYD_ENST00000229447.5_Missense_Mutation_p.D272G|IYD_ENST00000392256.2_3'UTR NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 235 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) AGGTCTGGTGACTGTCACTAC 0.547000 9 431 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378296 16378296 + Silent SNP A A C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:16378296A>C ENST00000375679.4 + 14 1500 c.1389A>C c.(1387-1389)ccA>ccC p.P463P CLCNKB_ENST00000375667.3_Silent_p.P294P NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCATCATGCCAGGGGGGTATG 0.622000 6 323 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104898176 104898176 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:104898176G>A ENST00000507740.1 + 2 1009 c.773G>A c.(772-774)cGt>cAt p.R258H RIMS2_ENST00000406091.3_Missense_Mutation_p.R450H|RIMS2_ENST00000436393.2_Missense_Mutation_p.R228H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R258H NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 481 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GACTTGAGGCGTACTGACTCA 0.463000 HNSCC(12;0.0054) 6 280 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61513415 61513415 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr20:61513415G>A ENST00000266070.4 - 16 4218 c.3893C>T c.(3892-3894)aCg>aTg p.T1298M DIDO1_ENST00000395343.1_Missense_Mutation_p.T1298M NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1298 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) GGAAGCTGCCGTGGAGGCTGC 0.587000 32 500 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261731 39261731 + Missense_Mutation SNP G G C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:39261731G>C ENST00000391415.1 + 1 148 c.91G>C c.(91-93)Gag>Cag p.E31Q NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 31 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament p.E31Q(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 CAGCTGCTGTGAGACCACCTG 0.637000 4 196 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64812808 64812808 + Silent SNP C C G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:64812808C>G ENST00000332707.5 + 6 952 c.423C>G c.(421-423)ctC>ctG p.L141L NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 141 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.L141L(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) GAGTAGATCTCTACCTGCGAA 0.398000 6 466 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 6 122 0 0 1 0 0 NPIPB15 440348 broad.mit.edu 37 16 74425620 74425620 + Missense_Mutation SNP T T C rs141339834 by1000genomes TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr16:74425620T>C ENST00000429990.1 + 7 1070 c.974T>C c.(973-975)gTc>gCc p.V325A nuclear pore complex interacting protein family, member B15 TGTCTCTTTGTCCCTCTTCCA 0.527000 6 893 0 0 1 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160266337 160266337 + Missense_Mutation SNP A A T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr4:160266337A>T ENST00000264431.4 + 18 3294 c.2875A>T c.(2875-2877)Agt>Tgt p.S959C NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 959 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GGTACGTCGTAGTTCCTTTCT 0.448000 25 525 0 0 1 0 0 PCDHA4 0 broad.mit.edu 37 5 140188738 140188738 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr5:140188738G>A ENST00000530339.1 + 1 1966 c.1966G>A c.(1966-1968)Gag>Aag p.E656K PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E656K|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E656K NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCACGGCGAGCCCGCGCT 0.682000 5 406 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127797110 127797110 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr6:127797110G>A ENST00000556132.1 - 6 2925 c.2061C>T c.(2059-2061)caC>caT p.H687H SOGA3_ENST00000481848.2_Silent_p.H687H|SOGA3_ENST00000368268.2_Silent_p.H687H|SOGA3_ENST00000465909.2_Silent_p.H687H|SOGA3_ENST00000525778.1_Silent_p.H687H NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 687 integral to membrane GCGCGCTGTCGTGGCCGCCGG 0.652000 15 419 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219614735 219614735 + Silent SNP C C A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:219614735C>A ENST00000392102.1 + 15 3079 c.2739C>A c.(2737-2739)ctC>ctA p.L913L TTLL4_ENST00000442769.1_Silent_p.L849L|TTLL4_ENST00000457313.1_Silent_p.L748L|TTLL4_ENST00000258398.4_Silent_p.L913L NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 913 TTL. protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TCTGAAGCCTCCACTCCAGCT 0.468000 24 968 8.04996e-18 8.8483e-18 1 1 0 MTR 4548 broad.mit.edu 37 1 237024423 237024423 + Splice_Site SNP A A T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:237024423A>T ENST00000366577.5 + 20 2437 c.e20-1 MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding p.?(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) tgtcttttttAGGGCATTGAA 0.323000 7 112 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75065538 75065538 + Missense_Mutation SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:75065538T>C ENST00000326665.5 - 11 1785 c.1567A>G c.(1567-1569)Atg>Gtg p.M523V RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.M326V NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 523 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ATTCCATTCATTTGAACATCA 0.388000 18 592 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276064 186276064 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:186276064G>A ENST00000445192.2 + 7 1258 c.1213G>A c.(1213-1215)Gca>Aca p.A405T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A364T|PRG4_ENST00000367485.4_Missense_Mutation_p.A312T|PRG4_ENST00000367486.3_Missense_Mutation_p.A362T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 405 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTGCACCCACCAC 0.657000 6 390 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96688465 96688465 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:96688465G>A ENST00000434632.1 - 22 2681 c.2222C>T c.(2221-2223)gCg>gTg p.A741V GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 741 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CTTTGGGTCCGCACACTCTGG 0.557000 6 681 0 0 1 0 0 GPC3 2719 broad.mit.edu 37 X 132730547 132730547 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chrX:132730547G>A ENST00000370818.3 - 7 1939 c.1494C>T c.(1492-1494)tgC>tgT p.C498C GPC3_ENST00000394299.2_Silent_p.C521C|GPC3_ENST00000543339.1_Silent_p.C444C NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 498 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) CATCATCACCGCAGTCTCCAC 0.463000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 7 740 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21806573 21806573 + Missense_Mutation SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:21806573A>G ENST00000318220.6 + 14 2118 c.1070A>G c.(1069-1071)gAg>gGg p.E357G NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 413 NBPF 2. cytoplasm p.E413G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GATGAGAAAGAGCCTGAAGTC 0.463000 5 327 0 0 1 0 0 DTNA 1837 broad.mit.edu 37 18 32374135 32374135 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr18:32374135C>T ENST00000283365.9 + 5 634 c.283C>T c.(283-285)Cgg>Tgg p.R95W DTNA_ENST00000348997.5_Missense_Mutation_p.R95W|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000315456.6_Missense_Mutation_p.R95W|DTNA_ENST00000269190.7_Missense_Mutation_p.R95W|DTNA_ENST00000269191.6_Missense_Mutation_p.R95W|DTNA_ENST00000399121.5_Missense_Mutation_p.R95W|DTNA_ENST00000598774.1_Missense_Mutation_p.R95W|DTNA_ENST00000399113.3_Missense_Mutation_p.R95W|DTNA_ENST00000597599.1_Missense_Mutation_p.R95W|DTNA_ENST00000598334.1_Missense_Mutation_p.R95W|DTNA_ENST00000595022.1_Missense_Mutation_p.R95W|DTNA_ENST00000444659.1_Missense_Mutation_p.R95W|DTNA_ENST00000598142.1_Missense_Mutation_p.R95W|DTNA_ENST00000596745.1_Missense_Mutation_p.R95W|DTNA_ENST00000554864.3_Missense_Mutation_p.R95W NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 95 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 GCTCAACAAACGGATGCCAAC 0.498000 12 365 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79996923 79996923 + Nonsense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr9:79996923C>T ENST00000360280.3 + 68 9369 c.9109C>T c.(9109-9111)Cga>Tga p.R3037* VPS13A_ENST00000376634.4_Nonsense_Mutation_p.R3037*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.R2998*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.R3037* NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 3037 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGAGAGTCTGCGACCTCCTCG 0.343000 6 293 0 0 1 0 0 DNA2 1763 broad.mit.edu 37 10 70176584 70176584 + Missense_Mutation SNP C C A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr10:70176584C>A ENST00000399180.2 - 20 3253 c.3254G>T c.(3253-3255)cGt>cTt p.R1085L DNA2_ENST00000358410.3_Missense_Mutation_p.R999L|DNA2_ENST00000399179.2_Missense_Mutation_p.R761L P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 999 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 AACATTAAGACGTCGCCAATC 0.368000 4 241 0.00909568 0.00923455 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 9 409 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11687719 11687719 + Missense_Mutation SNP G G T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:11687719G>T ENST00000262442.3 + 41 7992 c.7924G>T c.(7924-7926)Gcg>Tcg p.A2642S DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2642 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAACTTCCCGGCGTCCCTGCA 0.542000 18 745 8.00594e-06 8.38417e-06 1 1 0 MCOLN1 57192 broad.mit.edu 37 19 7594053 7594053 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:7594053G>A ENST00000264079.6 + 10 1326 c.1201G>A c.(1201-1203)Gtg>Atg p.V401M NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 401 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTGGGTGGGCGTGATCCGCTA 0.572000 6 268 0 0 1 0 0 PTPRB 0 broad.mit.edu 37 12 70964902 70964902 + Nonsense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:70964902G>A ENST00000334414.6 - 13 3318 c.3274C>T c.(3274-3276)Cga>Tga p.R1092* PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R784*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.R874*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R1004*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R1091*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R874*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R784* NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 874 Fibronectin type-III 13. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GAAGTAAATCGATACTCGGTT 0.453000 5 183 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5969140 5969140 + Splice_Site SNP C C A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr4:5969140C>A ENST00000531445.1 - 5 1926 c.e5+1 C4orf50_ENST00000324058.5_Splice_Site Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 ATCACACTGACCTCTTAAAGC 0.537000 6 379 0.00198382 0.00204533 1 1 0 POM121L9P 0 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 6 123 0 0 1 0 0 HBP1 26959 broad.mit.edu 37 7 106826346 106826346 + Missense_Mutation SNP C C A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr7:106826346C>A ENST00000222574.4 + 4 685 c.499C>A c.(499-501)Cat>Aat p.H167N HBP1_ENST00000468410.1_Missense_Mutation_p.H167N|HBP1_ENST00000485846.1_Missense_Mutation_p.H167N NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 167 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 AGCCTTCCCTCATCACCATTG 0.413000 8 472 5.18039e-06 5.46819e-06 1 1 0 LDLR 3949 broad.mit.edu 37 19 11226801 11226801 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:11226801G>A ENST00000558518.1 + 11 1805 c.1618G>A c.(1618-1620)Gcc>Acc p.A540T LDLR_ENST00000558013.1_Missense_Mutation_p.A540T|LDLR_ENST00000545707.1_Missense_Mutation_p.A413T|LDLR_ENST00000535915.1_Missense_Mutation_p.A499T|LDLR_ENST00000455727.2_Missense_Mutation_p.A372T|LDLR_ENST00000557933.1_Missense_Mutation_p.A540T NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 540 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GGGAACTCCCGCCAAGATCAA 0.567000 6 416 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145059362 145059362 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:145059362G>A ENST00000313028.7 - 5 902 c.808C>T c.(808-810)Cct>Tct p.P270S PARP10_ENST00000524918.1_Missense_Mutation_p.P270S|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.P282S NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 270 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTAGCCCTAGGCCCCTGGGTG 0.652000 7 331 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 10 28 0 0 1 0 0 ZNF551 90233 broad.mit.edu 37 19 58198939 58198939 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:58198939G>A ENST00000282296.5 + 3 1481 c.1296G>A c.(1294-1296)tcG>tcA p.S432S AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Silent_p.S416S|AC003006.7_ENST00000599221.1_Intron NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GCTGCAAATCGGAACTCATTC 0.403000 14 534 0 0 1 0 0 MAP3K7 6885 broad.mit.edu 37 6 91281458 91281458 + Missense_Mutation SNP T T A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr6:91281458T>A ENST00000369329.3 - 2 350 c.189A>T c.(187-189)aaA>aaT p.K63N MAP3K7_ENST00000369325.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369332.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369327.3_Missense_Mutation_p.K63N NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 63 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TTTCTATTTGTTTAATAGCAA 0.343000 5 258 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107288998 107288998 + Nonsense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr9:107288998G>A ENST00000277216.3 - 1 492 c.493C>T c.(493-495)Cga>Tga p.R165* NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 AAAGGCCATCGCATGGCAAGT 0.383000 5 403 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86027758 86027758 + Missense_Mutation SNP A A T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:86027758A>T ENST00000414626.2 + 5 1698 c.809A>T c.(808-810)gAt>gTt p.D270V LRRCC1_ENST00000360375.3_Missense_Mutation_p.D290V Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 290 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 CATGAAAACGATTTGCAGAAT 0.343000 5 163 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3924509 3924509 + Missense_Mutation SNP G G A rs146431554 byFrequency TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:3924509G>A ENST00000381638.2 - 45 7442 c.7318C>T c.(7318-7320)Cgg>Tgg p.R2440W NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2440 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CTGACTGGCCGTTCCACCTCT 0.557000 6 477 0 0 1 0 0 PAOX 196743 broad.mit.edu 37 10 135193525 135193525 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr10:135193525G>A ENST00000278060.5 + 2 287 c.204G>A c.(202-204)gcG>gcA p.A68A PAOX_ENST00000480071.2_Silent_p.A68A|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.A68A NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 206 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) AGGTGGGCGCGCACTGGATCC 0.677000 10 239 0 0 1 0 0 NAP1L4 4676 broad.mit.edu 37 11 2975837 2975837 + Missense_Mutation SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr11:2975837T>C ENST00000380542.4 - 12 1095 c.955A>G c.(955-957)Att>Gtt p.I319V NAP1L4_ENST00000526115.1_Missense_Mutation_p.I319V NM_005969.3 NP_005960.1 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 319 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) AAGTGTCCAATTTCAAAATCA 0.448000 7 289 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38926606 38926606 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:38926606G>A ENST00000335552.4 - 3 628 c.580C>T c.(580-582)Cgc>Tgc p.R194C NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 194 Coil 1B.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) AACACTCTGCGAAGACCACTG 0.488000 12 427 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52637535 52637535 + Splice_Site SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:52637535A>G ENST00000356770.4 - 16 2686 c.e16+1 PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site Q86U86 PB1_HUMAN polybromo 1 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) AAAGAAACCAACCTCTTTTTT 0.318000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 5 92 0 0 1 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403564 143403564 + RNA SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:143403564A>G ENST00000423249.1 - 0 59 TTCTTTGGCCACTTTGGCTGA 0.453000 4 57 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126732303 126732303 + Silent SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr5:126732303C>T ENST00000274473.6 + 7 759 c.492C>T c.(490-492)acC>acT p.T164T MEGF10_ENST00000508365.1_Silent_p.T164T|MEGF10_ENST00000418761.2_Silent_p.T164T|MEGF10_ENST00000503335.2_Silent_p.T164T NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 164 EGF-like 2.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACCCCATCACCGGGGCTTGCC 0.622000 5 398 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143879 142143879 + RNA SNP A A T rs149184848 by1000genomes TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr7:142143879A>T ENST00000390373.2 - 0 116 CACACAGCAGAGTCATGCTCT 0.507000 10 393 0 0 1 0 0 HBP1 26959 broad.mit.edu 37 7 106826349 106826349 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr7:106826349C>T ENST00000222574.4 + 4 688 c.502C>T c.(502-504)Cac>Tac p.H168Y HBP1_ENST00000468410.1_Missense_Mutation_p.H168Y|HBP1_ENST00000485846.1_Missense_Mutation_p.H168Y NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 168 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 CTTCCCTCATCACCATTGGAA 0.413000 8 461 0 0 1 0 0 FAM20B 9917 broad.mit.edu 37 1 179033482 179033482 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:179033482G>A ENST00000263733.4 + 6 1125 c.789G>A c.(787-789)acG>acA p.T263T NM_014864.3 NP_055679.1 O75063 XYLK_HUMAN family with sequence similarity 20, member B 263 Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3) 14 TGAAGAAAACGTCCCCTTATG 0.502000 11 479 0 0 1 0 0 PCM1 5108 broad.mit.edu 37 8 17829972 17829972 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:17829972G>A ENST00000325083.8 + 23 4158 c.3719G>A c.(3718-3720)cGc>cAc p.R1240H PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H|PCM1_ENST00000519253.1_Missense_Mutation_p.R1240H NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 1240 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) AGTAGTAACCGCAAAAATCAA 0.383000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 5 341 0 0 1 0 0 IGKV1-5 0 broad.mit.edu 37 2 89247307 89247307 + RNA SNP C C G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:89247307C>G ENST00000496168.1 - 0 168 TGTGTCCTGACTGGGTCTGAC 0.562000 6 445 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49781232 49781232 + Missense_Mutation SNP G G A rs142361918 byFrequency TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr13:49781232G>A ENST00000492622.2 + 26 3603 c.3298G>A c.(3298-3300)Gac>Aac p.D1100N FNDC3A_ENST00000541916.1_Missense_Mutation_p.D1100N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.D1044N NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 1100 Fibronectin type-III 9. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) CAAGGGTCCCGACTCTTCCTT 0.438000 7 366 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577566 7577566 + Missense_Mutation SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:7577566T>C ENST00000420246.2 - 7 847 c.715A>G c.(715-717)Aac>Gac p.N239D TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 239 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGAACTGTTACACATGTAG 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 266 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 7 368 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:129695840G>A ENST00000302649.3 + 3 1037 c.510G>A c.(508-510)gaG>gaA p.E170E TRH_ENST00000507066.1_Silent_p.E166E NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity p.E170E(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 Gggaagaagaggaggaggagg 0.642000 5 250 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 6 455 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 5 127 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143907 142143907 + RNA SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr7:142143907T>C ENST00000390373.2 - 0 88 CTTCAGGACGTGGAATTTTGG 0.527000 8 341 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42523567 42523567 + Missense_Mutation SNP T T C rs61736517 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr22:42523567T>C ENST00000360608.5 - 7 1169 c.1055A>G c.(1054-1056)cAc>cGc p.H352R CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 352 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTAGGGCATGTGAGCCTGGTC 0.592000 7 168 0 0 1 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161146937 161146937 + RNA SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:161146937G>A ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 AATTTTGTTGGCAACATCCAA 0.378000 6 415 0 0 1 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 6 327 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 5 205 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 6 509 0 0 1 0 0 PTRF 284119 broad.mit.edu 37 17 40557306 40557306 + Missense_Mutation SNP C C G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:40557306C>G ENST00000357037.5 - 2 991 c.572G>C c.(571-573)cGg>cCg p.R191P NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 191 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CTCCTCGGGCCGCTCGCCCTC 0.642000 12 760 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141614 133141614 + Silent SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:133141614C>T ENST00000388996.4 - 15 2934 c.2514G>A c.(2512-2514)acG>acA p.T838T KCNQ3_ENST00000521134.1_Silent_p.T718T|KCNQ3_ENST00000519445.1_Silent_p.T826T NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 838 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGTCTGTGTCCGTCTCACCCT 0.592000 7 187 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 6 221 0 0 1 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545865 22545865 + Missense_Mutation SNP G G C rs147500263 by1000genomes TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr16:22545865G>C ENST00000424340.1 + 7 1840 c.1561G>C c.(1561-1563)Gcc>Ccc p.A521P NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 TCAGCTCACTGCCCTTCCACC 0.567000 11 1556 0 0 1 0 0 PCDHGB6 0 broad.mit.edu 37 5 140788191 140788191 + Missense_Mutation SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr5:140788191A>G ENST00000520790.1 + 1 422 c.422A>G c.(421-423)gAa>gGa p.E141G PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATACATTTAGAAATTTTCGAA 0.363000 8 318 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231720 7231720 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr18:7231720C>T ENST00000383467.2 + 1 598 c.584C>T c.(583-585)tCg>tTg p.S195L NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 195 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CACGTGGGCTCGAATCGCCTG 0.537000 8 319 0 0 1 0 0 CTD-2620I22.1 0 broad.mit.edu 37 19 53472914 53472914 + RNA SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:53472914A>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTTGATTTTCAATTAAAAACC 0.338000 5 121 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 8 539 2.35188e-11 2.54309e-11 1 1 0 VWA3B 200403 broad.mit.edu 37 2 98736133 98736133 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:98736133G>A ENST00000477737.1 + 4 653 c.449G>A c.(448-450)gGc>gAc p.G150D VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D|VWA3B_ENST00000451075.2_Intron NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 150 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GATTTTGGCGGCATTCTGGAG 0.522000 7 862 0 0 1 0 0 CSRNP2 81566 broad.mit.edu 37 12 51461619 51461619 + Missense_Mutation SNP C C T rs148149139 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:51461619C>T ENST00000228515.1 - 4 842 c.545G>A c.(544-546)cGg>cAg p.R182Q NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 182 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 GGCCCGTCGCCGTTTGGTGGG 0.537000 11 429 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 213 0.014758 0.0148698 1 1 0 TTPA 7274 broad.mit.edu 37 8 63978492 63978492 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:63978492C>T ENST00000260116.4 - 3 554 c.523G>A c.(523-525)Gta>Ata p.V175I TTPA_ENST00000521138.1_Intron NM_000370.3 NP_000361.1 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 175 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8) 15 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) TTCTTGGCTACGGATGGAGTG 0.363000 5 310 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.P211P NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 9 113 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 8 203 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135390519 135390519 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr5:135390519G>A ENST00000442011.2 + 10 1540 c.1379G>A c.(1378-1380)gGc>gAc p.G460D TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 460 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding p.G460D(1) 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) ACTCTGGGCGGCAAAAAACTG 0.423000 6 918 0 0 1 0 0 KRTAP11-1 0 broad.mit.edu 37 21 32253584 32253584 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr21:32253584C>T ENST00000332378.4 - 1 290 c.260G>A c.(259-261)cGa>cAa p.R87Q NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 87 keratin filament structural molecule activity p.R87P(3) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 GGTAGTTTGTCGAGAGCAAGT 0.562000 5 227 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102822797 102822797 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr11:102822797C>T ENST00000260302.3 - 5 771 c.743G>A c.(742-744)gGc>gAc p.G248D MMP13_ENST00000340273.4_Missense_Mutation_p.G248D NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 248 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding p.G248D(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GTGGCTTTTGCCGGTGTAGGT 0.448000 7 811 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10389055 10389055 + Splice_Site SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:10389055G>A ENST00000328655.3 + 3 638 c.598_splice c.e3+1 p.A200_splice PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Splice_Site_p.A200_splice NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 200 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 GACCAATGCTGGTATGTGACT 0.597000 4 238 0 0 1 0 0 HBP1 26959 broad.mit.edu 37 7 106826825 106826825 + Missense_Mutation SNP C C G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr7:106826825C>G ENST00000222574.4 + 5 746 c.560C>G c.(559-561)tCt>tGt p.S187C HBP1_ENST00000468410.1_Missense_Mutation_p.S187C|HBP1_ENST00000485846.1_Missense_Mutation_p.S187C NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 187 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 GAGTCAGAATCTGGCATTTTC 0.353000 10 583 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99913460 99913460 + Silent SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr7:99913460A>G ENST00000332397.6 + 7 1438 c.1254A>G c.(1252-1254)tcA>tcG p.S418S SPDYE3_ENST00000437326.2_Silent_p.S41S NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 418 p.S418S(11) endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 TGAGGGTGTCAGACAAGGTAA 0.522000 9 1001 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6896543 6896543 + Nonsense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:6896543C>T ENST00000312053.4 + 3 266 c.229C>T c.(229-231)Cga>Tga p.R77* EMR1_ENST00000381404.4_Nonsense_Mutation_p.R77*|EMR1_ENST00000450315.3_Nonsense_Mutation_p.R77*|EMR1_ENST00000381407.5_Nonsense_Mutation_p.R77*|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000250572.8_Nonsense_Mutation_p.R77* NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 77 EGF-like 1. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TCCAGGAGTGCGATGCAAAGG 0.488000 5 185 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:57485446T>C ENST00000300131.3 + 2 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCGCCCCCCTTCTCCCCCCC 0.716000 9 104 0 0 1 0 0 GOLGA6L7P 0 broad.mit.edu 37 15 29092257 29092257 + RNA SNP C C T rs75388271 by1000genomes TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr15:29092257C>T ENST00000569815.1 - 0 258 NR_047567.1 TCAGGGTTAGCGCCATGATTT 0.547000 12 144 0 0 1 0 0 ERLIN2 11160 broad.mit.edu 37 8 37611540 37611540 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:37611540G>A ENST00000276461.5 + 12 994 c.927G>A c.(925-927)gcG>gcA p.A309A ERLIN2_ENST00000519638.1_Silent_p.A309A NM_007175.6 NP_009106.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 309 Interaction with ERLIN1. ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGGACTCTGCGGGCAGTGTGA 0.458000 8 276 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78787582 78787582 + Splice_Site SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr10:78787582G>A ENST00000286627.5 - 16 2879 c.1928_splice c.e16+1 p.R643_splice KCNMA1_ENST00000354353.5_Splice_Site_p.R643_splice|KCNMA1_ENST00000372440.1_Splice_Site_p.R643_splice|KCNMA1_ENST00000404857.1_Splice_Site_p.R643_splice|KCNMA1_ENST00000404771.3_Splice_Site_p.R643_splice|KCNMA1_ENST00000286628.8_Splice_Site_p.R643_splice|KCNMA1_ENST00000406533.3_Splice_Site_p.R643_splice|KCNMA1_ENST00000372443.1_Splice_Site_p.R643_splice NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 643 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CAAACTTACCGGCTCTCTCGG 0.483000 10 400 0 0 1 0 0 RP11-812E19.9 0 broad.mit.edu 37 16 33647344 33647344 + Nonsense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr16:33647344G>A ENST00000558425.1 - 2 255 c.256C>T c.(256-258)Cga>Tga p.R86* ATGGTGAATCGGCCCTTCACA 0.507000 23 1040 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187521297 187521297 + Missense_Mutation SNP C C A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr4:187521297C>A ENST00000441802.2 - 22 12067 c.11858G>T c.(11857-11859)gGt>gTt p.G3953V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3953 Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GATGTGGCCACCAAAAAACAC 0.488000 HNSCC(5;0.00058) 14 361 4.36969e-10 4.64935e-10 1 1 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 6 583 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8716284 8716285 + Frame_Shift_Del DEL TC TC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:8716284_8716285delTC ENST00000337907.3 - 3 706_707 c.72_73delGA c.(70-75)gaaafs p.EK24fs RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_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 9 779 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 7 295 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 10 293 --- --- --- --- FNDC7 163479 broad.mit.edu 37 1 109276138 109276138 + Frame_Shift_Del DEL A A - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:109276138delA ENST00000370017.3 + 10 2401 c.2124delA c.(2122-2124)ccfs p.P708fs FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 709 Fibronectin type-III 8. extracellular region p.I478fs*4(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTTTCTGTCCAAAAAAAATAT 0.363 7 389 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:237969494delT ENST00000366574.2 + 99 14526 c.14209delT c.(14209-14211)ttfs p.F4739fs RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4739 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTATAACAACTTTTTTTTTGC 0.403 7 197 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 9 289 --- --- --- --- BRE 9577 broad.mit.edu 37 2 28521301 28521301 + Frame_Shift_Del DEL A A - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:28521301delA ENST00000344773.2 + 11 1169 c.1031delA c.(1030-1032)cafs p.Q344fs BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000342045.2_Frame_Shift_Del_p.Q344fs NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 344 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TCCCAGGCCCAAAAAAATTAT 0.448 10 629 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 7 660 --- --- --- --- FAP 2191 broad.mit.edu 37 2 163075620 163075620 + Frame_Shift_Del DEL C C - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:163075620delC ENST00000188790.4 - 8 767 c.560delG c.(559-561)gafs p.G187fs FAP_ENST00000443424.1_Frame_Shift_Del_p.G162fs NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 187 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 ATTTTCTCTTCCATTAAATGT 0.318 7 323 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 10 389 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 9 290 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 14 277 --- --- --- --- ULK4 54986 broad.mit.edu 37 3 41860984 41860985 + Frame_Shift_Ins INS - - T rs76318575 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:41860984_41860985insT ENST00000301831.4 - 19 2240_2241 c.1778_1779insA c.(1777-1779)aaafs p.K593fs NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 593 ATP binding|protein serine/threonine kinase activity p.K593fs*17(1) breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTCTAGGGTTCTTTTTTTTTTC 0.450 9 374 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 10 305 --- --- --- --- PDE12 201626 broad.mit.edu 37 3 57542768 57542770 + In_Frame_Del DEL CTT CTT - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:57542768_57542770delCTT ENST00000311180.8 + 1 765_767 c.662_664delCTT c.(661-666)cct>c p.PS221del PDE12_ENST00000487257.1_In_Frame_Del_p.PS221del NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 221 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CCCTCCTCACCTTCTTCTTCTTG 0.616 7 733 --- --- --- --- ARL13B 200894 broad.mit.edu 37 3 93761986 93761986 + Frame_Shift_Del DEL A A - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:93761986delA ENST00000535334.1 + 6 1140 c.617delA c.(616-618)cafs p.Q206fs ARL13B_ENST00000303097.7_Frame_Shift_Del_p.Q202fs|ARL13B_ENST00000539730.1_Frame_Shift_Del_p.Q30fs|ARL13B_ENST00000471138.1_Frame_Shift_Del_p.Q309fs|ARL13B_ENST00000394222.3_Frame_Shift_Del_p.Q309fs NM_001174151.1 NP_001167622.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 309 GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 CACAATGGCCAAAAAAATAAT 0.383 7 380 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 9 994 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 14 429 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:167747642_167747644delCTG ENST00000470487.1 - 10 2046_2048 c.1357_1359delCAG c.(1357-1359)del p.Q453del GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 453 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTGCCACctgctgctgctgc 0.640 7 216 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 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_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|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 10 1124 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000381753.4_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 13 567 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 7 173 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 9 40 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801633 137801635 + In_Frame_Del DEL CAG CAG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr5:137801633_137801635delCAG ENST00000239938.4 + 1 455_457 c.183_185delCAG c.(181-186)aac>aa p.NS61del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 61 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.700 8 202 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 9 1006 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs|C6orf89_ENST00000510325.2_5'UTR Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 53 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTCAGAGACCCCCCCCGCA 0.428 8 421 --- --- --- --- FOXP4 116113 broad.mit.edu 37 6 41555185 41555186 + Frame_Shift_Ins INS - - C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr6:41555185_41555186insC ENST00000373060.1 + 7 1265_1266 c.807_808insC c.(805-810)tcccccfs p.SP269fs FOXP4_ENST00000409208.1_Frame_Shift_Ins_p.SP269fs|FOXP4_ENST00000307972.4_Frame_Shift_Ins_p.SP269fs|FOXP4_ENST00000373063.3_Frame_Shift_Ins_p.SP268fs|FOXP4_ENST00000373057.3_Frame_Shift_Ins_p.SP267fs NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 269 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development 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 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) CCAAGGTCTCACCCCCCCTCTC 0.678 OREG0004065 type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 557 --- --- --- --- MAP3K4 4216 broad.mit.edu 37 6 161469776 161469776 + Frame_Shift_Del DEL A A - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr6:161469776delA ENST00000392142.4 + 3 620 c.472delA c.(472-474)aafs p.K159fs MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000446500.1_3'UTR NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 159 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.N160fs*8(2) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GCGTGATCGTAAAAAAAATGT 0.403 7 501 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A rs80359854 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:27634576_27634577insA ENST00000305188.8 + 3 989_990 c.751_752insA c.(751-753)aaafs p.K251fs ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 251 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GACTGTCAGTGAAAAAAAAACT 0.396 SC Phocomelia syndrome 7 335 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 8 694 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20414278 20414280 + In_Frame_Del DEL CTG CTG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr9:20414278_20414280delCTG ENST00000380338.4 - 5 850_852 c.564_566delCAG c.(562-567)agt>ag p.SS188del MLLT3_ENST00000429426.2_In_Frame_Del_p.SS185del|MLLT3_ENST00000355930.6_5'UTR|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, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) 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) ACTGGTActactgctgctgctgc 0.507 T MLL ALL 10 485 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 11 314 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 12 351 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828727 61828729 + In_Frame_Del DEL GTG GTG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr10:61828727_61828729delGTG ENST00000280772.1 - 37 12101_12103 c.11910_11912delCAC c.(11908-11913)act>ac p.TT3976del ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3976 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 agtggtggtagtggtggtggtgg 0.468 13 403 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice 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 7 336 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 8 672 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 8 756 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 8 163 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:6711546delT ENST00000309577.6 - 3 381 c.218delA c.(217-219)agfs p.K73fs CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 73 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACTCACCTCCTTTTTTTGGCG 0.468 9 1128 --- --- --- --- LINC00987 0 broad.mit.edu 37 12 9392739 9392740 + RNA INS - - TCTTCCTCCTCC rs71045240 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:9392739_9392740insTCTTCCTCCTCC ENST00000427111.3 + 0 141_142 NR_036466.1 caccatcaccttcttcctcccc 0.545 7 46 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56559127 56559128 + Frame_Shift_Ins INS - - G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:56559127_56559128insG ENST00000394023.3 - 27 3311_3312 c.3206_3207insC c.(3205-3207)cggfs p.R1069fs SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1069fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1038fs NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1038 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GGGGAACCCCTGGTGGGACTGC 0.584 7 312 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 9 352 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 13 1007 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23528502 23528503 + Frame_Shift_Del DEL TC TC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr14:23528502_23528503delTC ENST00000262710.1 - 19 4207_4208 c.3880_3881delGA c.(3880-3882)afs p.E1294fs ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1294 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ccgctccctttctctctctctc 0.629 OREG0022595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 223 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 7 100 --- --- --- --- IGHV4OR15-8 0 broad.mit.edu 37 15 22473095 22473096 + RNA INS - - G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr15:22473095_22473096insG ENST00000557788.2 - 0 174_175 CCCTGGGGGCTGGCGGACCCAG 0.594 18 761 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91550236 91550238 + In_Frame_Del DEL TCC TCC - rs147271815 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr15:91550236_91550238delTCC ENST00000333371.3 - 9 995_997 c.642_644delGGA c.(640-645)gat>ga p.ED214del VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 214 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GGTTTCGCCATCCTCCTCCTCCT 0.522 13 672 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 7 106 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 9 1100 --- --- --- --- CMTM1 113540 broad.mit.edu 37 16 66603929 66603930 + Frame_Shift_Ins INS - - T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr16:66603929_66603930insT ENST00000379500.2 + 2 590_591 c.523_524insT c.(523-525)tttfs p.F175fs CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000535705.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 58 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) CTGCATTGTCGTTTTTTTTATT 0.347 7 744 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913786 67913788 + In_Frame_Del DEL AGC AGC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr16:67913786_67913788delAGC ENST00000358933.5 + 16 2094_2096 c.1855_1857delAGC c.(1855-1857)del p.S629del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 629 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) cagcagcggtagcagcagcagca 0.616 8 258 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 7 393 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 12 487 --- --- --- --- ZNF207 7756 broad.mit.edu 37 17 30677314 30677316 + In_Frame_Del DEL AAG AAG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:30677314_30677316delAAG ENST00000394670.4 + 1 179_181 c.10_12delAAG c.(10-12)del p.K7del RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del|ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|ZNF207_ENST00000321233.6_In_Frame_Del_p.K7del|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 7 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TATGGGTCGCAAGAAGAAGAAGC 0.542 7 847 --- --- --- --- TMEM132E 124842 broad.mit.edu 37 17 32964522 32964523 + Frame_Shift_Ins INS - - G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:32964522_32964523insG ENST00000321639.5 + 10 2554_2555 c.2226_2227insG c.(2224-2229)ccgcggfs p.R743fs NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 743 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) AACCAGGGCCCGGCGGGGGCGA 0.752 9 153 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)tcfs p.I91fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 13 685 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 7 72 --- --- --- --- CCDC130 81576 broad.mit.edu 37 19 13873132 13873134 + In_Frame_Del DEL AGG AGG - rs148655062 byFrequency TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:13873132_13873134delAGG ENST00000586600.1 + 10 1096_1098 c.593_595delAGG c.(592-597)cag>c p.QE198del CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del P13994 CC130_HUMAN coiled-coil domain containing 130 198 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) AAAGCCATCCAGGAGGAGGAGGA 0.586 7 554 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 11 837 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 9 1200 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 8 258 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15347257 15347258 + RNA INS - - A rs80199214 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr21:15347257_15347258insA ENST00000344693.5 - 0 736 NR_027270.1 ACCCTGCACAGAAAAAAAGTTG 0.307 7 14 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 20 166 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29445819 29445821 + In_Frame_Del DEL CAG CAG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr22:29445819_29445821delCAG ENST00000544604.2 + 8 1825_1827 c.1650_1652delCAG c.(1648-1653)gac>ga p.DS550del ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 550 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CAGgcagcgacagcagcagcagc 0.660 7 171 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 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 8 499 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 9 330 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 8 417 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 10 614 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 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 8 323 --- --- --- --- RP1-30E17.2 0 broad.mit.edu 37 X 127584907 127584912 + RNA DEL GTGGTG GTGGTG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chrX:127584907_127584912delGTGGTG ENST00000449485.1 - 0 158 ggcaccagtagtggtggtggtggtgg 0.529 3 6 --- --- --- ---