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 WBSCR28 135886 broad.mit.edu 37 7 73279335 73279335 + Nonsense_Mutation SNP C C T TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr7:73279335C>T ENST00000320531.2 + 2 121 c.85C>T c.(85-87)Cga>Tga p.R29* NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 29 integral to membrane p.R29I(1) breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) GGTTCAGAACCGAGATCACCT 0.507000 114 560 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127796843 127796843 + Silent SNP G G A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr6:127796843G>A ENST00000556132.1 - 6 3192 c.2328C>T c.(2326-2328)ccC>ccT p.P776P SOGA3_ENST00000525778.1_Silent_p.P776P|SOGA3_ENST00000481848.2_Silent_p.P776P|SOGA3_ENST00000368268.2_Silent_p.P776P|SOGA3_ENST00000465909.2_Silent_p.P776P NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 776 integral to membrane CGCCGCCGATGGGCCCTTCGC 0.726000 24 50 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37485776 37485776 + Silent SNP C C T TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr22:37485776C>T ENST00000381792.2 - 7 818 c.678G>A c.(676-678)ctG>ctA p.L226L TMPRSS6_ENST00000406725.1_Silent_p.L226L|TMPRSS6_ENST00000406856.1_Silent_p.L226L|TMPRSS6_ENST00000346753.3_Silent_p.L235L|TMPRSS6_ENST00000442782.2_Silent_p.L235L Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 235 CUB 1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CAGGCCCCTTCAGCCGGAGGA 0.667000 4 12 0 0 1 0 0 PDE7B 27115 broad.mit.edu 37 6 136508198 136508198 + Missense_Mutation SNP T T A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr6:136508198T>A ENST00000308191.6 + 12 1373 c.1070T>A c.(1069-1071)cTg>cAg p.L357Q RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 357 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) AAATTTGAACTGGAAATCAGT 0.294000 14 40 0 0 1 0 0 NPBWR1 2831 broad.mit.edu 37 8 53852926 53852926 + Missense_Mutation SNP C C A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr8:53852926C>A ENST00000331251.3 + 1 1936 c.459C>A c.(457-459)agC>agA p.S153R NM_005285.3 NP_005276.2 P48145 NPBW1_HUMAN neuropeptides B/W receptor 1 153 synaptic transmission plasma membrane opioid receptor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2) 17 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) GCACCTACAGCGCCGCGCGCG 0.711000 4 19 0.150653 0.150653 1 1 0 AKAP17A 8227 broad.mit.edu 37 X 1714353 1714353 + Missense_Mutation SNP A A C TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chrX:1714353A>C ENST00000313871.3 + 3 1035 c.839A>C c.(838-840)gAa>gCa p.E280A AKAP17A_ENST00000381261.3_Missense_Mutation_p.E280A NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 280 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 AAGCTTCAGGAACTGGAGCAG 0.527000 54 148 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1538386 1538386 + Missense_Mutation SNP G G A rs144425748 byFrequency TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr17:1538386G>A ENST00000263071.4 - 11 2208 c.2159C>T c.(2158-2160)gCg>gTg p.A720V SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.A634V NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 720 Gly-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity p.A720E(1) cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTTGGCTTCCGCCTGGCCTTT 0.632000 5 34 0 0 1 0 0 ZNF286B 729288 broad.mit.edu 37 17 18565373 18565373 + Silent SNP A A G rs147985634 by1000genomes TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr17:18565373A>G ENST00000545289.1 - 5 1696 c.1446T>C c.(1444-1446)ctT>ctC p.L482L NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 GATGTTGAATAAGAGCTGATG 0.388000 4 34 0 0 1 0 0 THAP10 56906 broad.mit.edu 37 15 71184271 71184271 + Missense_Mutation SNP T T A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr15:71184271T>A ENST00000249861.4 - 1 853 c.341A>T c.(340-342)gAg>gTg p.E114V LRRC49_ENST00000544974.2_Intron NM_020147.3 NP_064532.1 Q9P2Z0 THA10_HUMAN THAP domain containing 10 114 DNA binding|metal ion binding NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGCCTGGAGCTCTCCTCGCGT 0.682000 13 10 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328887 80328887 + Missense_Mutation SNP C C A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr4:80328887C>A ENST00000358842.3 - 1 485 c.468G>T c.(466-468)tgG>tgT p.W156C NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 156 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TGTCAAGCATCCAACGAAGTT 0.413000 20 98 1.56452e-12 1.84062e-12 1 1 0 SETD1A 9739 broad.mit.edu 37 16 30970090 30970090 + Missense_Mutation SNP C C G TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr16:30970090C>G ENST00000262519.8 + 2 724 c.38C>G c.(37-39)cCg>cGg p.P13R NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 13 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGAAGGCCCCGAGCTTCCAG 0.577000 19 84 0 0 1 0 0 DNAJC8 22826 broad.mit.edu 37 1 28559481 28559481 + Missense_Mutation SNP G G A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr1:28559481G>A ENST00000263697.4 - 1 55 c.29C>T c.(28-30)tCa>tTa p.S10L DNAJC8_ENST00000489277.1_5'UTR NM_014280.2 NP_055095.2 O75937 DNJC8_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 8 10 nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) TCCGCCGCCTGAAGTCCCGCT 0.627000 8 46 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733610 56733610 + Silent SNP G G A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr19:56733610G>A ENST00000587340.1 - 7 1520 c.825C>T c.(823-825)tgC>tgT p.C275C ZSCAN5A_ENST00000587492.1_Silent_p.C129C|ZSCAN5A_ENST00000592355.1_Silent_p.C274C|ZSCAN5A_ENST00000254165.3_Silent_p.C158C|ZSCAN5A_ENST00000391713.1_Silent_p.C275C Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 275 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TCTCCACAACGCAGGCAGAAG 0.527000 20 101 0 0 1 0 0 ZNF654 55279 broad.mit.edu 37 3 88188456 88188456 + Translation_Start_Site SNP G G A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr3:88188456G>A ENST00000309495.5 + 0 203 CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) CCAAGGCATCGTTGTATGTTA 0.398000 5 14 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85097248 85097248 + Splice_Site SNP C C A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr8:85097248C>A ENST00000517638.1 + 1 139 c.16_splice c.e1+1 p.R5_splice RALYL_ENST00000522455.1_Intron|RALYL_ENST00000521695.1_Intron|RALYL_ENST00000518566.1_Intron|RALYL_ENST00000521268.1_Intron NM_001100391.1 NP_001093861.1 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 0 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 GTAAACGACGCAGTAGGTCCT 0.522000 20 35 3.51602e-12 4.05694e-12 1 1 0 NBAS 51594 broad.mit.edu 37 2 15307443 15307443 + Missense_Mutation SNP T T A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr2:15307443T>A ENST00000281513.5 - 52 6870 c.6845A>T c.(6844-6846)aAt>aTt p.N2282I NBAS_ENST00000441750.1_Missense_Mutation_p.N2162I NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 2282 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ATTGGAATCATTCACCTTCAA 0.517000 8 37 0 0 1 0 0 SLC39A8 64116 broad.mit.edu 37 4 103189158 103189158 + Missense_Mutation SNP T T A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr4:103189158T>A ENST00000424970.2 - 7 1234 c.919A>T c.(919-921)Ata>Tta p.I307L SLC39A8_ENST00000394833.2_Missense_Mutation_p.I307L|SLC39A8_ENST00000356736.4_Missense_Mutation_p.I307L NM_001135147.1 NP_001128619.1 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), member 8 307 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) CAGAGCGTTATCATCCAGGCA 0.468000 30 56 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146350748 146350748 + Missense_Mutation SNP C C T TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr6:146350748C>T ENST00000392299.2 + 2 565 c.95C>T c.(94-96)gCg>gTg p.A32V GRM1_ENST00000282753.1_Missense_Mutation_p.A32V|GRM1_ENST00000355289.4_Missense_Mutation_p.A32V|GRM1_ENST00000507907.1_Missense_Mutation_p.A32V|GRM1_ENST00000492807.2_Missense_Mutation_p.A32V|GRM1_ENST00000361719.2_Missense_Mutation_p.A32V Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 32 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CTGGCAGGAGCGTCGTCTCAG 0.582000 59 99 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99827594 99827594 + Missense_Mutation SNP C C T TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr11:99827594C>T ENST00000524871.1 + 8 1020 c.730C>T c.(730-732)Cgg>Tgg p.R244W CNTN5_ENST00000527185.1_Missense_Mutation_p.R244W|CNTN5_ENST00000279463.3_Missense_Mutation_p.R244W|CNTN5_ENST00000418526.2_Missense_Mutation_p.R170W|CNTN5_ENST00000528682.1_Missense_Mutation_p.R244W NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 244 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GGAAGACAGCCGGCGGTTCAT 0.403000 12 33 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1390875 1390875 + Silent SNP C C T rs1781147 by1000genomes TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr1:1390875C>T ENST00000378785.2 + 5 1409 c.414C>T c.(412-414)gaC>gaT p.D138D NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 138 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GACCCCAGGACGTGCTGGAGG 0.677000 6 29 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11319762 11319762 + Missense_Mutation SNP T T A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr19:11319762T>A ENST00000294618.7 - 38 4780 c.4769A>T c.(4768-4770)cAg>cTg p.Q1590L CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.Q929L NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1590 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 CGGTGAGCCCTGGTAGCCCCG 0.657000 9 7 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29737521 29737521 + Missense_Mutation SNP C C T rs149960917 byFrequency TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr22:29737521C>T ENST00000357586.2 - 13 1951 c.1765G>A c.(1765-1767)Gtg>Atg p.V589M AP1B1_ENST00000317368.7_Missense_Mutation_p.V589M|AP1B1_ENST00000432560.2_Missense_Mutation_p.V589M|AP1B1_ENST00000356015.2_Missense_Mutation_p.V589M|AP1B1_ENST00000415447.1_Missense_Mutation_p.V589M|AP1B1_ENST00000405198.1_Missense_Mutation_p.V589M|AP1B1_ENST00000402502.1_Missense_Mutation_p.V589M NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 589 Pro-rich (stalk region). endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CTCTTGTGCACGACGCCCCGG 0.627000 7 61 0 0 1 0 0 PPIL1 51645 broad.mit.edu 37 6 36839520 36839520 + Missense_Mutation SNP A A T TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr6:36839520A>T ENST00000373699.5 - 2 436 c.185T>A c.(184-186)aTc>aAc p.I62N NM_016059.4 NP_057143.1 Q9Y3C6 PPIL1_HUMAN peptidylprolyl isomerase (cyclophilin)-like 1 62 Cyclosporin A binding.|PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity lung(1)|ovary(1) 2 ACCTCCTTGGATCATGAAGTC 0.398000 41 54 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3633188 3633188 + Missense_Mutation SNP G G A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr16:3633188G>A ENST00000294008.3 - 14 5703 c.5063C>T c.(5062-5064)cCa>cTa p.P1688L RP11-461A8.1_ENST00000573982.1_lincRNA NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1688 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 ATTGAGGCCTGGAGGTGCCTC 0.587000 Direct reversal of damage 44 60 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113707646 113707646 + Silent SNP C C T TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr12:113707646C>T ENST00000550785.1 + 8 1129 c.960C>T c.(958-960)atC>atT p.I320I TPCN1_ENST00000541517.1_Silent_p.I320I|TPCN1_ENST00000392569.4_Silent_p.I180I|TPCN1_ENST00000335509.6_Silent_p.I248I NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 248 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TCTTTGCCATCCTCGGTGAGT 0.567000 18 74 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100192027 100192027 + Missense_Mutation SNP T T C TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr7:100192027T>C ENST00000241071.6 + 6 1137 c.815T>C c.(814-816)tTg>tCg p.L272S PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.L310S|FBXO24_ENST00000468962.1_Missense_Mutation_p.L260S|FBXO24_ENST00000360609.2_Missense_Mutation_p.L258S|FBXO24_ENST00000465843.1_Missense_Mutation_p.L258S|PCOLCE-AS1_ENST00000544873.1_RNA NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 272 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ATCTACTCTTTGGTAGTGAAT 0.557000 35 78 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156928533 156928533 + Splice_Site SNP C C T TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr1:156928533C>T ENST00000368194.3 - 17 2542 c.e17+1 ARHGEF11_ENST00000361409.2_Splice_Site NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GAAAGACTCACAAAATATCTC 0.532000 10 16 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238275436 238275436 + Silent SNP G G A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr2:238275436G>A ENST00000295550.4 - 11 5846 c.5394C>T c.(5392-5394)cgC>cgT p.R1798R COL6A3_ENST00000353578.4_Silent_p.R1592R|COL6A3_ENST00000409809.1_Silent_p.R1592R|COL6A3_ENST00000346358.4_Silent_p.R1598R|COL6A3_ENST00000347401.3_Silent_p.R1597R|COL6A3_ENST00000472056.1_Silent_p.R1191R NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1798 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGTTGCCCACGCGGAACGCTG 0.547000 21 75 0 0 1 0 0 PRR23A 729627 broad.mit.edu 37 3 138724757 138724757 + Silent SNP C C G rs11924188 by1000genomes TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr3:138724757C>G ENST00000383163.2 - 1 353 c.354G>C c.(352-354)tcG>tcC p.S118S MRPS22_ENST00000495075.1_5'UTR NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 118 endometrium(3)|kidney(1)|lung(7) 11 GCCCAGCAGACGAGTCGTCCT 0.617000 4 30 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d 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 47 31 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5085881 5085881 + Silent SNP T T C TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr17:5085881T>C ENST00000399604.4 - 1 1811 c.1671A>G c.(1669-1671)ggA>ggG p.G557G ZNF594_ENST00000575779.1_Silent_p.G557G Q96JF6 ZN594_HUMAN zinc finger protein 594 557 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTTTCTGCTCTCCCCTAAGCT 0.473000 7 95 0 0 1 0 0 CENPI 2491 broad.mit.edu 37 X 100382593 100382593 + Missense_Mutation SNP C C T TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chrX:100382593C>T ENST00000372927.1 + 10 1290 c.1013C>T c.(1012-1014)tCa>tTa p.S338L CENPI_ENST00000423383.1_Missense_Mutation_p.S338L|CENPI_ENST00000218507.5_Missense_Mutation_p.S338L|CENPI_ENST00000372926.1_Missense_Mutation_p.S338L NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 338 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding p.S338L(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 AGAAGTGGATCATTTCCACTA 0.378000 19 47 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13121 13121 + Missense_Mutation SNP G G A TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chrM:13121G>A ENST00000361567.2 + 1 785 c.785G>A c.(784-786)cGc>cAc p.R262H P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 262 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CTTACTCATCCGCTTCCACCC 0.527000 7 89 0 0 1 0 0 SLC25A37 51312 broad.mit.edu 37 8 23429210 23429210 + Missense_Mutation SNP C C T TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr8:23429210C>T ENST00000519973.1 + 4 1057 c.859C>T c.(859-861)Cgg>Tgg p.R287W NM_016612.2 NP_057696.2 Q9NYZ2 MFRN1_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 37 287 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) CAATGCCTTCCGGACGGTGTA 0.607000 11 33 0 0 1 0 0 CTC-338M12.9 0 broad.mit.edu 37 5 180708697 180708698 + RNA INS - - A rs1815381 TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr5:180708697_180708698insA ENST00000412295.2 + 0 238 ggggcggtaggcgggggctgga 0.718 4 6 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 3 6 --- --- --- --- KRTAP5-2 440021 broad.mit.edu 37 11 1619173 1619202 + In_Frame_Del DEL CCCCCACAGGAGCCACAGCCCCCCTTGGAG CCCCCACAGGAGCCACAGCCCCCCTTGGAG - rs61869706 by1000genomes TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG ENST00000412090.1 - 1 322_351 c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG c.(277-309)ggt>gg p.GSKGGCGSCGG93del KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 93 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG 0.657 29 171 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 7 4 --- --- --- --- GNB3 2784 broad.mit.edu 37 12 6954899 6954899 + Frame_Shift_Del DEL C C - TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr12:6954899delC ENST00000229264.3 + 10 1254 c.849delC c.(847-849)cgfs p.R283fs CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Frame_Shift_Del_p.R282fs|CDCA3_ENST00000604599.1_5'UTR NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 283 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 TCAGTGGCCGCCTACTATTCG 0.602 55 166 --- --- --- --- PLEKHA8P1 0 broad.mit.edu 37 12 45566878 45566878 + RNA DEL T T - TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr12:45566878delT ENST00000256692.5 - 0 1807 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 tttatttttatttttttttAC 0.299 2 4 --- --- --- --- RP11-248G5.8 0 broad.mit.edu 37 13 52803642 52803642 + RNA DEL T T - TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr13:52803642delT ENST00000451298.1 - 0 938 RP11-64P12.8_ENST00000606031.1_RNA CAGTTTTCCCTTTTTTTTTTT 0.328 2 4 --- --- --- --- GGNBP2 79893 broad.mit.edu 37 17 34901690 34901691 + Frame_Shift_Ins INS - - C TCGA-EL-A3ZM-01A-12D-A23M-08 TCGA-EL-A3ZM-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3 f6362e17-a8ee-444b-af2c-2d2b8c7a807d g.chr17:34901690_34901691insC ENST00000485685.2 + 2 409_410 c.117_118insC c.(115-120)ggccgcfs p.R40fs GGNBP2_ENST00000304718.4_Intron Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 0 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) gccgggctgggcccgccgcTCC 0.678 3 4 --- --- --- ---