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 LAS1L 81887 broad.mit.edu 37 X 64751302 64751302 + Missense_Mutation SNP C C A TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chrX:64751302C>A ENST00000374811.3 - 4 489 c.449G>T c.(448-450)tGg>tTg p.W150L LAS1L_ENST00000374807.5_Missense_Mutation_p.W150L|LAS1L_ENST00000312391.8_Missense_Mutation_p.W150L|LAS1L_ENST00000374804.5_Missense_Mutation_p.W108L NM_031206.4 NP_112483.1 Q9Y4W2 LAS1L_HUMAN LAS1-like (S. cerevisiae) 150 MLL1 complex|nucleolus protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 GTCAACAATCCAATCCGGAAT 0.428000 6 151 0.00116845 0.00116845 1 1 0 IFNL3 282617 broad.mit.edu 37 19 39735130 39735130 + Missense_Mutation SNP T T A TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr19:39735130T>A ENST00000413851.2 - 2 223 c.185A>T c.(184-186)gAg>gTg p.E62V NM_172139.2 NP_742151.2 interferon, lambda 3 CAGAAGCGACTCTTCCTAGAC 0.617000 3 25 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10979978 10979978 + Missense_Mutation SNP C C T rs142712079 TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr3:10979978C>T ENST00000254488.2 + 14 1855 c.1789C>T c.(1789-1791)Cgg>Tgg p.R597W NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 597 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.R597W(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TCTGAAAATGCGGGGCAAGCT 0.547000 4 93 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899575 233899575 + Silent SNP C C A TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr2:233899575C>A ENST00000233840.3 + 2 951 c.951C>A c.(949-951)gcC>gcA p.A317A NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 317 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GACCTCCAGCCCCTGAGGCCT 0.677000 59 90 1.69475e-38 1.75994e-38 1 1 0 SLC44A1 23446 broad.mit.edu 37 9 108145604 108145604 + Missense_Mutation SNP C C G TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr9:108145604C>G ENST00000374720.3 + 14 2080 c.1833C>G c.(1831-1833)agC>agG p.S611R SLC44A1_ENST00000374723.1_Missense_Mutation_p.S611R|SLC44A1_ENST00000374724.1_Missense_Mutation_p.S611R|SLC44A1_ENST00000343170.7_Missense_Mutation_p.S403R NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 611 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) ATGATGGGAGCCCTGGCAGAG 0.338000 39 56 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8331609 8331609 + Missense_Mutation SNP T T C TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr9:8331609T>C ENST00000381196.4 - 41 6050 c.5507A>G c.(5506-5508)cAa>cGa p.Q1836R PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1814R|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q1426R|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q1426R|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1823R|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q1429R|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1836R|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q1429R|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q1430R|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q1429R|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1836R NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1836 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGGTCCATCTTGGCCAAACTG 0.423000 TSP Lung(15;0.13) 33 55 0 0 1 0 0 RP13-996F3.4 0 broad.mit.edu 37 15 83014132 83014132 + Missense_Mutation SNP C C G TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr15:83014132C>G ENST00000557886.1 - 6 550 c.451G>C c.(451-453)Gag>Cag p.E151Q p.E151Q(4) endometrium(6)|kidney(5)|prostate(1) 12 GCTGGGGGCTCTGGGGCCAGG 0.522000 3 6 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461589 11461589 + Missense_Mutation SNP A A G TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr12:11461589A>G ENST00000279575.1 - 3 361 c.328T>C c.(328-330)Tcc>Ccc p.S110P PRB4_ENST00000445719.2_Missense_Mutation_p.S110P|PRB4_ENST00000535904.1_Missense_Mutation_p.S110P NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 152 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GTACCTTGGGACTGGTTTCCT 0.602000 HNSCC(22;0.051) 6 454 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625892 29625892 + Missense_Mutation SNP T T C TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr20:29625892T>C ENST00000278882.3 + 5 516 c.136T>C c.(136-138)Tat>Cat p.Y46H FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAATCTGGCTATGGAAAATA 0.348000 5 88 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413327 105413327 + Missense_Mutation SNP G G A TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr14:105413327G>A ENST00000333244.5 - 7 8580 c.8461C>T c.(8461-8463)Ccg>Tcg p.P2821S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2821 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCGAATGACGGCATCTTGAAC 0.602000 6 479 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31602596 31602596 + Missense_Mutation SNP G G A TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr14:31602596G>A ENST00000399332.1 - 24 4258 c.3770C>T c.(3769-3771)gCt>gTt p.A1257V HECTD1_ENST00000553700.1_Missense_Mutation_p.A1257V NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1257 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TCTAAGATTAGCTTCTGCTTC 0.403000 22 39 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461583 11461583 + Missense_Mutation SNP C C G TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr12:11461583C>G ENST00000279575.1 - 3 367 c.334G>C c.(334-336)Ggt>Cgt p.G112R PRB4_ENST00000445719.2_Splice_Site_p.G112_splice|PRB4_ENST00000535904.1_Missense_Mutation_p.G112R NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 154 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGTGGGGTACCTTGGGACTGG 0.607000 HNSCC(22;0.051) 9 443 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72830100 72830100 + Missense_Mutation SNP G G A TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr16:72830100G>A ENST00000268489.5 - 9 7153 c.6481C>T c.(6481-6483)Cgg>Tgg p.R2161W ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1247W NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2161 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AAATATTGCCGCAAGACTCGG 0.517000 4 71 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30794300 30794300 + Missense_Mutation SNP C C T TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr16:30794300C>T ENST00000262525.4 - 3 1556 c.1349G>A c.(1348-1350)cGc>cAc p.R450H NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) GGTGTGGATGCGCTGGTGGCG 0.637000 4 157 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99913460 99913460 + Silent SNP A A G TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c 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 5 220 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49420143 49420143 + Missense_Mutation SNP T T C TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr10:49420143T>C ENST00000374201.3 - 13 1767 c.1465A>G c.(1465-1467)Agt>Ggt p.S489G FRMPD2_ENST00000305531.3_Missense_Mutation_p.S464G|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S457G NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 489 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TATGGCTTACTCTCCACCTGC 0.502000 19 26 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36971021 36971021 + Missense_Mutation SNP A A G TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr5:36971021A>G ENST00000282516.8 + 7 1153 c.654A>G c.(652-654)atA>atG p.I218M NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.I218M NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 218 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGAGAAACATACATGATAATA 0.363000 8 22 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 7 87 0 0 1 0 0 TCEAL5 340543 broad.mit.edu 37 X 102528908 102528908 + Missense_Mutation SNP C C T TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chrX:102528908C>T ENST00000372680.1 - 3 878 c.584G>A c.(583-585)aGg>aAg p.R195K NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TTTCTGGCCCCTACCTCCGCC 0.483000 8 106 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 12 49 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 63 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 7 74 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 24 86 --- --- --- --- PCSK9 255738 broad.mit.edu 37 1 55505552 55505553 + In_Frame_Ins INS - - CTG rs35574083 TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr1:55505552_55505553insCTG ENST00000302118.5 + 1 332_333 c.42_43insCTG c.(40-45)cctgct>ccCTGtgct p.14_15PA>PCA PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 14 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 Ggccgctgccactgctgctgct 0.703 3 3 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137803 121137805 + RNA DEL CCA CCA - rs60375635 by1000genomes TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr1:121137803_121137805delCCA ENST00000437515.1 - 0 329 ACCGCCGCCGCCACGGCTTTTTG 0.645 4 5 --- --- --- --- IKZF2 22807 broad.mit.edu 37 2 214012404 214012405 + Frame_Shift_Del DEL AA AA - rs6738070 by1000genomes TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr2:214012404_214012405delAA ENST00000442445.1 - 3 241_242 c.184_185delTT c.(184-186)gfs p.L62fs IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000374319.4_Intron Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) ACACACACACAAAAAAAAATCA 0.411 11 108 --- --- --- --- RP11-167H9.4 0 broad.mit.edu 37 3 149769296 149769296 + RNA DEL C C - rs59377959 TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr3:149769296delC ENST00000487840.1 + 0 46 TTCCTGGTGTCtttttttttt 0.463 13 42 --- --- --- --- RP11-453E17.1 0 broad.mit.edu 37 4 68632418 68632419 + RNA INS - - AT rs59536241 by1000genomes TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr4:68632418_68632419insAT ENST00000500538.2 + 0 1905 RP11-453E17.1_ENST00000502758.1_RNA cacacacacacaTATATATAct 0.431 4 5 --- --- --- --- CTD-2215E18.1 0 broad.mit.edu 37 5 96518818 96518819 + Frame_Shift_Ins INS - - G TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr5:96518818_96518819insG ENST00000509481.1 + 4 680_681 c.139_140insG c.(139-141)ggtfs p.G47fs RIOK2_ENST00000508447.1_Intron|RIOK2_ENST00000283109.3_Intron urinary_tract(1) 1 ACAGGAACGGCGGGTTTCTTAC 0.569 8 274 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 4 4 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 7 47 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 4 8 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000529259.1_3'UTR|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 7 154 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 22 5 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 9 4 --- --- --- --- NLRC3 197358 broad.mit.edu 37 16 3594163 3594163 + RNA DEL A A - rs60164526 TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr16:3594163delA ENST00000301749.7 - 0 3261 NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 tgtctcgaggaaaaaaaaaaa 0.488 6 8 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)tcfs p.I91fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_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 11 125 --- --- --- --- CABLES1 91768 broad.mit.edu 37 18 20716015 20716023 + In_Frame_Del DEL GGCGCCGGC GGCGCCGGC - TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chr18:20716015_20716023delGGCGCCGGC ENST00000256925.7 + 1 289_297 c.289_297delGGCGCCGGC c.(289-297)del p.GAG97del CABLES1_ENST00000400473.2_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 97 Ala-rich.|Interacts with TDRD7 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) ggccaagccgggcgccggcggcgcctgcg 0.785 6 1 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140993904 140993906 + In_Frame_Del DEL CCC CCC - rs146816736 byFrequency TCGA-E8-A3X7-01A-11D-A22Z-08 TCGA-E8-A3X7-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957 8ad45a93-7b81-453a-ba26-59dddfe5e77c g.chrX:140993904_140993906delCCC ENST00000285879.4 + 4 1000_1002 c.714_716delCCC c.(712-717)agc>ag p.SP238del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 238 protein binding p.P239S(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCCCCTCCTCCTCC 0.478 HNSCC(15;0.026) 32 126 --- --- --- ---