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 MT-CO2 4513 broad.mit.edu 37 MT 7976 7976 + Missense_Mutation SNP G G A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chrM:7976G>A ENST00000361739.1 + 1 391 c.391G>A c.(391-393)Ggc>Agc p.G131S mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 TCCTAGAACCAGGCGACCTGC 0.468000 5 32 0 0 1 0 0 PHF17 0 broad.mit.edu 37 4 129770169 129770169 + Missense_Mutation SNP A A G TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr4:129770169A>G ENST00000226319.6 + 5 611 c.331A>G c.(331-333)Agg>Ggg p.R111G PHF17_ENST00000413543.2_Missense_Mutation_p.R111G|PHF17_ENST00000452328.2_Splice_Site|PHF17_ENST00000512960.1_Missense_Mutation_p.R111G|PHF17_ENST00000511647.1_Missense_Mutation_p.R111G NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 111 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CATGTTCATCAGGCCCAAGAA 0.507000 4 107 0 0 1 0 0 DDX52 11056 broad.mit.edu 37 17 35992180 35992180 + Missense_Mutation SNP G G A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr17:35992180G>A ENST00000349699.2 - 4 609 c.566C>T c.(565-567)aCg>aTg p.T189M DDX52_ENST00000394367.3_Missense_Mutation_p.T81M NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 189 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) TTGGATTGGCGTAGGCATTTG 0.418000 5 116 0 0 1 0 0 TNFRSF14 8764 broad.mit.edu 37 1 2493197 2493197 + Missense_Mutation SNP G G T rs145758620 TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr1:2493197G>T ENST00000355716.4 + 6 936 c.637G>T c.(637-639)Gtc>Ttc p.V213F NM_003820.2 NP_003811.2 Q92956 TNR14_HUMAN tumor necrosis factor receptor superfamily, member 14 213 immune response|interspecies interaction between organisms|T cell costimulation tumor necrosis factor receptor activity kidney(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) CCTCGTCATCGTCATTGTTTG 0.602000 """Mis, N, F""" follicular lymphoma 4 104 0.00909568 0.00909568 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 4 102 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87031618 87031618 + Missense_Mutation SNP C C T TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr1:87031618C>T ENST00000370563.3 + 6 911 c.869C>T c.(868-870)aCa>aTa p.T290I CLCA4_ENST00000263723.5_Missense_Mutation_p.T3I NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 290 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CCCATGGTGACACCACCTCCT 0.408000 36 84 0 0 1 0 0 NAIF1 203245 broad.mit.edu 37 9 130825860 130825860 + Silent SNP G G C TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr9:130825860G>C ENST00000373078.4 - 2 1050 c.831C>G c.(829-831)ggC>ggG p.G277G NAIF1_ENST00000488519.1_5'UTR NM_197956.3 NP_931045.1 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 277 apoptosis|induction of apoptosis nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CAGCCTGTGTGCCCTCCATGG 0.642000 20 29 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803342 142803342 + RNA SNP T T G TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr1:142803342T>G ENST00000423385.1 - 0 1623 TGCACAAtttttttatgaagg 0.378000 3 8 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2128 2128 + RNA SNP G G A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chrM:2128G>A ENST00000387347.2 + 0 458 NR_039705.1 CTTTGGACACTAGGAAAAAAC 0.383000 6 36 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 4 85 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 63976288 63976288 + Missense_Mutation SNP C C A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr12:63976288C>A ENST00000324472.4 - 18 1806 c.1623G>T c.(1621-1623)ttG>ttT p.L541F DPY19L2_ENST00000413230.2_5'UTR NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 541 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CTAACAACTGCAATGTGTGAA 0.308000 15 47 7.93312e-07 8.36194e-07 1 1 0 BPIFB6 128859 broad.mit.edu 37 20 31622089 31622089 + Missense_Mutation SNP G G A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr20:31622089G>A ENST00000349552.1 + 3 295 c.295G>A c.(295-297)Ggc>Agc p.G99S NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 99 extracellular region lipid binding GACCGTCACTGGCAAGAGGTG 0.542000 6 102 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 4 29 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031910 32031910 + Missense_Mutation SNP A A G TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr3:32031910A>G ENST00000360311.4 + 2 1888 c.1339A>G c.(1339-1341)Act>Gct p.T447A NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 TCATTGGCGAACTCATACTGG 0.378000 10 51 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153186199 153186199 + Missense_Mutation SNP C C T TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chrX:153186199C>T ENST00000370028.3 - 5 619 c.562G>A c.(562-564)Gcc>Acc p.A188T ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A167T|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.A188T|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A165T NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 188 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGCCGCTCGGCCTCCCGGAGC 0.652000 43 12 0 0 1 0 0 IGKV1-5 0 broad.mit.edu 37 2 89247307 89247307 + RNA SNP C C G TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr2:89247307C>G ENST00000496168.1 - 0 168 TGTGTCCTGACTGGGTCTGAC 0.562000 6 143 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2455 2455 + RNA SNP T T C TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chrM:2455T>C ENST00000387347.2 + 0 785 NR_039705.1 CATAAGGAAAGGTTAAAAAAA 0.433000 7 32 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39008171 39008171 + Missense_Mutation SNP G G C TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr19:39008171G>C ENST00000355481.4 + 66 9989 c.9858G>C c.(9856-9858)gaG>gaC p.E3286D RYR1_ENST00000359596.3_Missense_Mutation_p.E3286D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3286D NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3286 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GATGGTGGGAGCGCGGGCCCG 0.682000 16 18 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817144 129817144 + RNA SNP G G T TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr3:129817144G>T ENST00000507643.1 + 0 726 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups TGCGGGAGTCGCAGCAGCTCT 0.527000 3 44 0.00909568 0.00909568 1 1 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249370 71249370 + Missense_Mutation SNP G G A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr11:71249370G>A ENST00000398534.3 + 1 300 c.269G>A c.(268-270)tGc>tAc p.C90Y NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 90 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 CAGTGCAGCTGCTATAAGCCC 0.637000 8 285 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123254610 123254610 + Silent SNP G G A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr7:123254610G>A ENST00000451558.1 + 6 575 c.54G>A c.(52-54)caG>caA p.Q18Q RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000275699.3_Silent_p.Q18Q|ASB15_ENST00000434204.1_Silent_p.Q18Q|ASB15_ENST00000540573.1_Silent_p.Q18Q|ASB15_ENST00000451215.1_Silent_p.Q18Q Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 18 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 ATGATATTCAGCTAAGTATTC 0.353000 10 214 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083652 17083652 + RNA SNP C C T rs113710576 by1000genomes TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr1:17083652C>T ENST00000455405.2 - 0 936 aaatctcaaccttgagtacaa 0.388000 5 32 0 0 1 0 0 TMEM163 81615 broad.mit.edu 37 2 135223748 135223748 + Missense_Mutation SNP T T C TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr2:135223748T>C ENST00000281924.6 - 6 668 c.604A>G c.(604-606)Atc>Gtc p.I202V NM_030923.4 NP_112185.1 Q8TC26 TM163_HUMAN transmembrane protein 163 202 integral to membrane endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.154) ACGGCCAGGATGCTGCAAAGA 0.502000 3 35 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 4 19 0 0 1 0 0 NDUFA9 4704 broad.mit.edu 37 12 4766977 4766977 + Missense_Mutation SNP A A T TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr12:4766977A>T ENST00000266544.5 + 4 402 c.382A>T c.(382-384)Aat>Tat p.N128Y NM_005002.4 NP_004993.1 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 128 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) TGTGGTCATCAATCTTATTGG 0.423000 25 89 0 0 1 0 0 MT-TL1 0 broad.mit.edu 37 MT 3244 3244 + RNA SNP G G A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chrM:3244G>A ENST00000386347.1 + 0 15 aagatggcagagcccggtaat 0.438000 4 51 0 0 1 0 0 CS 1431 broad.mit.edu 37 12 56668575 56668575 + Missense_Mutation SNP G G A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr12:56668575G>A ENST00000548567.1 - 10 1278 c.808C>T c.(808-810)Ctc>Ttc p.L270F CS_ENST00000542324.2_Missense_Mutation_p.L323F|CS_ENST00000351328.3_Missense_Mutation_p.L336F O75390 CISY_HUMAN citrate synthase 336 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 17 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) CCTGAGTTGAGTGTGTTCCAG 0.433000 5 67 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58019099 58019099 + Nonsense_Mutation SNP C C T TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr12:58019099C>T ENST00000320442.4 + 12 1770 c.1459C>T c.(1459-1461)Cag>Tag p.Q487* SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR NM_133489.2 NP_597996.2 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 487 STAS. integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) AGAAGTGGTGCAGGTGAGGGA 0.562000 4 88 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16957475 16957475 + RNA SNP G G A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr1:16957475G>A ENST00000412962.1 - 0 203 GGGCCTCTGCGGGGCGAACGG 0.716000 3 6 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67631713 67631713 + Silent SNP A A G TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr2:67631713A>G ENST00000272342.5 + 5 2029 c.1899A>G c.(1897-1899)tcA>tcG p.S633S ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 633 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 GTAAGACATCAGAAAGTATAT 0.363000 5 154 0 0 1 0 0 CDK14 5218 broad.mit.edu 37 7 90613533 90613533 + Missense_Mutation SNP G G C TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr7:90613533G>C ENST00000406263.1 + 9 1322 c.880G>C c.(880-882)Gat>Cat p.D294H CDK14_ENST00000380050.3_Missense_Mutation_p.D340H|CDK14_ENST00000436577.2_Missense_Mutation_p.D211H|CDK14_ENST00000265741.3_Missense_Mutation_p.D322H O94921 CDK14_HUMAN cyclin-dependent kinase 14 340 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 AGACATTCAGGATCAACTTGA 0.363000 6 145 0 0 1 0 0 SPRR4 163778 broad.mit.edu 37 1 152944387 152944389 + In_Frame_Del DEL GCG GCG - rs73010454 byFrequency TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr1:152944387_152944389delGCG ENST00000328051.2 + 2 70_72 c.21_23delGCG c.(19-24)cag>ca p.QR7del NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 7 Gln-rich. keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) agcagcagcagcggcagcagcag 0.552 7 160 --- --- --- --- AC006988.1 0 broad.mit.edu 37 7 88269891 88269891 + RNA DEL T T - TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr7:88269891delT ENST00000390184.1 + 0 57 GAAGGAGCACTTTTTTTTTTT 0.313 2 4 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149518533 149518533 + RNA DEL C C - rs11353848 TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr7:149518533delC ENST00000378016.2 + 0 12602 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGAGCAGTCCCAGAGCCAG 0.711 4 2 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr11:89405323_89405326delTTTA ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aattatattgtttatttatttttg 0.230 4 6 --- --- --- --- RP11-74M13.4 0 broad.mit.edu 37 12 57265997 57265997 + RNA DEL T T - TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr12:57265997delT ENST00000557452.1 + 0 1887 CTTTTCTGTATTTTACTGTGA 0.398 2 4 --- --- --- --- HERC2P9 0 broad.mit.edu 37 15 28929354 28929355 + RNA INS - - A TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr15:28929354_28929355insA ENST00000528584.1 + 0 1891_1892 NR_036443.1 TTCAGAGATTCTCATTGGGAAG 0.421 5 10 --- --- --- --- MAP2K1 5604 broad.mit.edu 37 15 66729094 66729099 + In_Frame_Del DEL TGGAGA TGGAGA - TCGA-FY-A76V-01A-11D-A397-08 TCGA-FY-A76V-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 179619c3-8cd7-42b3-90c6-c2f64f4c865e 3d81374b-9d1a-481b-a560-996e5cadd36d g.chr15:66729094_66729099delTGGAGA ENST00000307102.5 + 3 833_838 c.302_307delTGGAGA c.(301-309)ctc>c p.LEI101del NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 101 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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 cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 CTAATTCATCTGGAGATCAAACCCGC 0.447 22 50 --- --- --- ---