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 TTC36 143941 broad.mit.edu 37 11 118399446 118399446 + Missense_Mutation SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr11:118399446G>A ENST00000539546.1 + 3 405 c.70G>A c.(70-72)Gag>Aag p.E24K RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TTC36_ENST00000302783.4_Missense_Mutation_p.E83K|RP11-770J1.3_ENST00000554407.1_RNA A6NLP5 TTC36_HUMAN tetratricopeptide repeat domain 36 83 binding lung(2) 2 CCTGCTGCCTGAGAGGGCTTC 0.642000 18 49 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657000 4 42 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184922519 184922519 + Nonsense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr4:184922519C>T ENST00000308497.4 + 2 1643 c.208C>T c.(208-210)Cag>Tag p.Q70* STOX2_ENST00000438269.1_Nonsense_Mutation_p.Q70*|STOX2_ENST00000511250.1_3'UTR NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 70 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) CAGTCAGTCTCAGTTTATTCC 0.488000 15 36 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56178173 56178173 + Nonsense_Mutation SNP C C G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr5:56178173C>G ENST00000399503.3 + 14 3146 c.3146C>G c.(3145-3147)tCa>tGa p.S1049* NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 1049 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) TTTACTCAGTCAAGACCCTTG 0.438000 23 33 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198949565 198949565 + Missense_Mutation SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr2:198949565G>A ENST00000428675.1 + 2 1722 c.1324G>A c.(1324-1326)Gtt>Att p.V442I PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 442 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CTGTCGAAGCGTTGAACTCGA 0.408000 20 54 0 0 1 0 0 NDUFS2 4720 broad.mit.edu 37 1 161183498 161183498 + Silent SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr1:161183498C>T ENST00000392179.4 + 12 1511 c.1272C>T c.(1270-1272)atC>atT p.I424I NDUFS2_ENST00000367993.3_Silent_p.I424I|NDUFS2_ENST00000465923.1_3'UTR NM_001166159.1 NP_001159631.1 O75306 NDUS2_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 424 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 18 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) GATGCAAGATCAAGGCTCCTG 0.448000 48 160 0 0 1 0 0 RCAN1 1827 broad.mit.edu 37 21 35895881 35895881 + Missense_Mutation SNP T T C TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr21:35895881T>C ENST00000481448.1 - 3 836 c.350A>G c.(349-351)cAt>cGt p.H117R RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000443408.2_5'UTR|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000313806.4_Missense_Mutation_p.H127R|RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000381132.2_Missense_Mutation_p.H72R|RCAN1_ENST00000381135.3_Missense_Mutation_p.H117R|RCAN1_ENST00000399272.1_Missense_Mutation_p.H46R P53805 RCAN1_HUMAN regulator of calcineurin 1 127 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 CTCAGTCTTATGCAGCTGGAG 0.458000 29 52 0 0 1 0 0 RBM22 55696 broad.mit.edu 37 5 150076426 150076426 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr5:150076426C>T ENST00000199814.4 - 5 420 c.299G>A c.(298-300)gGa>gAa p.G100E RBM22_ENST00000540000.1_Missense_Mutation_p.G51E|RBM22_ENST00000447771.2_Missense_Mutation_p.G51E NM_018047.2 NP_060517.1 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 100 protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAAGACAATCCTGCGTCACG 0.388000 18 39 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 7 29 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33612907 33612907 + Missense_Mutation SNP G G C TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr11:33612907G>C ENST00000321505.4 + 11 3980 c.3800G>C c.(3799-3801)aGa>aCa p.R1267T KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1273T|KIAA1549L_ENST00000265654.5_Intron KIAA1549-like CCTCAGGAAAGAGACGTCGCT 0.562000 24 37 0 0 1 0 0 SPOCK2 9806 broad.mit.edu 37 10 73826823 73826823 + Silent SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr10:73826823G>A ENST00000373109.2 - 8 1209 c.765C>T c.(763-765)tcC>tcT p.S255S SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Silent_p.S255S|SPOCK2_ENST00000536168.1_Silent_p.S255S NM_001244950.1 NP_001231879.1 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 255 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 TGTCCAGCTTGGAGAACATCC 0.577000 21 50 0 0 1 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40822615 40822615 + Silent SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr17:40822615G>A ENST00000293349.6 - 10 1951 c.1521C>T c.(1519-1521)caC>caT p.H507H PLEKHH3_ENST00000591022.1_Silent_p.H510H|PLEKHH3_ENST00000412503.1_Silent_p.H507H|PLEKHH3_ENST00000456950.2_5'UTR Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 510 FERM. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) AAGGCAGTTCGTGACCGTCTG 0.612000 30 41 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76735311 76735311 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr10:76735311C>T ENST00000287239.4 + 8 1705 c.1216C>T c.(1216-1218)Cgg>Tgg p.R406W KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Missense_Mutation_p.R406W|KAT6B_ENST00000372714.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 406 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding AGACCCCACTCGGCCTGGTGC 0.493000 15 56 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12816128 12816128 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr19:12816128C>T ENST00000425528.1 - 18 2305 c.1948G>A c.(1948-1950)Gag>Aag p.E650K TNPO2_ENST00000450764.2_Missense_Mutation_p.E650K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E650K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E650K|TNPO2_ENST00000592287.1_Missense_Mutation_p.E650K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E650K O14787 TNPO2_HUMAN transportin 2 650 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity p.E650*(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCCAGGCCCTCGGCCAGGCCG 0.602000 9 4 0 0 1 0 0 ALDH2 217 broad.mit.edu 37 12 112230404 112230404 + Missense_Mutation SNP G G T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr12:112230404G>T ENST00000261733.2 + 9 962 c.901G>T c.(901-903)Gat>Tat p.D301Y ALDH2_ENST00000416293.3_Missense_Mutation_p.D254Y NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 301 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) TCCCGCAGTGGATTGGGCCGT 0.622000 T HMGA2 leiomyoma 9 17 2.27111e-07 2.34942e-07 1 1 0 LLGL1 3996 broad.mit.edu 37 17 18145214 18145214 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr17:18145214C>T ENST00000316843.4 + 19 2879 c.2783C>T c.(2782-2784)tCc>tTc p.S928F NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 928 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) TACCTGATATCCCCATCAGAA 0.577000 26 106 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90349724 90349724 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr15:90349724C>T ENST00000300060.6 - 2 404 c.91G>A c.(91-93)Gtg>Atg p.V31M NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 31 angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 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)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GAGTACACCACTGACAGTGCG 0.627000 34 63 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42740457 42740457 + Missense_Mutation SNP C C G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr15:42740457C>G ENST00000263805.4 - 3 3205 c.2879G>C c.(2878-2880)aGg>aCg p.R960T ZNF106_ENST00000565611.1_Missense_Mutation_p.R145T|ZNF106_ENST00000565380.1_Missense_Mutation_p.R188T NM_022473.1 NP_071918.1 zinc finger protein 106 TGGTATAGACCTCTCCTGGCT 0.458000 61 89 0 0 1 0 0 EIF3F 8665 broad.mit.edu 37 11 8013700 8013700 + Missense_Mutation SNP A A G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr11:8013700A>G ENST00000533626.1 + 5 1131 c.505A>G c.(505-507)Atc>Gtc p.I169V EIF3F_ENST00000449102.2_Missense_Mutation_p.I20V|EIF3F_ENST00000537635.1_Missense_Mutation_p.I184V|EIF3F_ENST00000309828.4_Missense_Mutation_p.I169V O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 169 MPN. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAATGAGCTCATCCTGGGCTG 0.463000 17 26 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 12814 12814 + Missense_Mutation SNP G G C TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chrM:12814G>C ENST00000361567.2 + 1 478 c.478G>C c.(478-480)Gcc>Ccc p.A160P P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 160 A -> V. 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) GTTGATGATACGCCCGAGCAG 0.453000 18 83 0 0 1 0 0 HIST1H3H 8357 broad.mit.edu 37 6 27778092 27778092 + Missense_Mutation SNP A A G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr6:27778092A>G ENST00000369163.2 + 1 251 c.241A>G c.(241-243)Acc>Gcc p.T81A NM_003536.2 NP_003527.1 P68431 H31_HUMAN histone cluster 1, H3h 81 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3) 10 GGACTTCAAGACCGACTTGCG 0.612000 22 30 0 0 1 0 0 MEOX2 4223 broad.mit.edu 37 7 15725715 15725715 + Missense_Mutation SNP G G C TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr7:15725715G>C ENST00000262041.5 - 1 722 c.313C>G c.(313-315)Cgg>Ggg p.R105G NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 105 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) AGGCTGTGCCGAGCCGCACTC 0.662000 6 10 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52233422 52233422 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr8:52233422C>T ENST00000543296.1 - 20 4037 c.3937G>A c.(3937-3939)Gtg>Atg p.V1313M PXDNL_ENST00000356297.4_Silent_p.G1394G|RP11-401H2.1_ENST00000521294.1_RNA A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 0 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CATCTGTACACCCTGCCTGCC 0.502000 43 63 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11457095 11457095 + Silent SNP T T A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr7:11457095T>A ENST00000423059.3 - 17 3770 c.3519A>T c.(3517-3519)ccA>ccT p.P1173P AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1173 TSP type-1 11. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATTGGGTCCATGGACCCCATT 0.388000 HNSCC(18;0.044) 3 20 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63908060 63908060 + Silent SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr15:63908060G>A ENST00000443617.2 - 76 14088 c.14001C>T c.(13999-14001)atC>atT p.I4667I NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4667 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TTCCACCAGGGATTATAGGAA 0.403000 4 10 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349367 58349367 + Silent SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr20:58349367C>T ENST00000371015.1 + 7 1463 c.996C>T c.(994-996)agC>agT p.S332S PHACTR3_ENST00000541461.1_Silent_p.S291S|PHACTR3_ENST00000355648.4_Silent_p.S291S|PHACTR3_ENST00000395636.2_Silent_p.S291S|PHACTR3_ENST00000395639.4_Silent_p.S221S|PHACTR3_ENST00000361300.4_Silent_p.S221S|PHACTR3_ENST00000359926.3_Silent_p.S329S NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 332 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GAACGTCCAGCGTGGAGCGGG 0.522000 27 43 0 0 1 0 0 C2orf15 150590 broad.mit.edu 37 2 99767011 99767011 + Nonsense_Mutation SNP C C G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr2:99767011C>G ENST00000302513.2 + 4 728 c.92C>G c.(91-93)tCa>tGa p.S31* TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Nonsense_Mutation_p.S31* NM_144706.2 NP_653307.1 Q8WU43 CB015_HUMAN chromosome 2 open reading frame 15 31 autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1) 6 CACATTTGTTCAGCTATCCTA 0.333000 27 55 0 0 1 0 0 ARPC1B 10095 broad.mit.edu 37 7 98984314 98984314 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr7:98984314C>T ENST00000451682.1 + 5 380 c.71C>T c.(70-72)gCc>gTc p.A24V ARPC1A_ENST00000432884.2_Silent_p.C339C|ARPC1B_ENST00000252725.5_Missense_Mutation_p.A24V|ARPC1B_ENST00000474880.1_3'UTR O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 24 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCAGAGATTGCCATCTGCCCC 0.557000 4 150 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48125076 48125076 + Silent SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr16:48125076C>T ENST00000311303.3 - 23 3585 c.3240G>A c.(3238-3240)acG>acA p.T1080T ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1080 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) ATTTGGCTTGCGTCTCTGTTC 0.532000 72 121 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216226297 216226297 + Missense_Mutation SNP C C A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr2:216226297C>A ENST00000354785.4 - 46 7784 c.7415G>T c.(7414-7416)aGa>aTa p.R2472I FN1_ENST00000446046.1_Missense_Mutation_p.R2325I|FN1_ENST00000443816.1_Missense_Mutation_p.R2260I|FN1_ENST00000432072.2_Missense_Mutation_p.R2262I|FN1_ENST00000421182.1_Missense_Mutation_p.R2235I|FN1_ENST00000359671.1_Missense_Mutation_p.R2381I|FN1_ENST00000357867.4_Missense_Mutation_p.R2171I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000356005.4_Missense_Mutation_p.R2291I|FN1_ENST00000346544.3_Missense_Mutation_p.R2206I|FN1_ENST00000345488.5_Missense_Mutation_p.R2179I|FN1_ENST00000336916.4_Missense_Mutation_p.R2350I|FN1_ENST00000323926.6_Missense_Mutation_p.R2441I P02751 FINC_HUMAN fibronectin 1 2381 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAATCTTCTCTGTCAGCCTG 0.398000 35 81 2.20474e-14 2.30728e-14 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 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 24 50 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240809 39240809 + Silent SNP C C A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr17:39240809C>A ENST00000391417.4 + 1 351 c.351C>A c.(349-351)ccC>ccA p.P117P NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 gctgccgcccctgctgctgcC 0.672000 3 31 0.115264 0.115264 1 1 0 RPL32P3 0 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 4 105 0 0 1 0 0 SPG20 23111 broad.mit.edu 37 13 36905542 36905542 + Silent SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr13:36905542C>T ENST00000451493.1 - 3 1219 c.1002G>A c.(1000-1002)cgG>cgA p.R334R SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Silent_p.R334R|SPG20_ENST00000494062.2_Silent_p.R334R|SPG20_ENST00000438666.2_Silent_p.R334R NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 334 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TTACCTGGAGCCGAAGGTCAG 0.418000 29 45 0 0 1 0 0 GDI2 2665 broad.mit.edu 37 10 5842629 5842629 + Missense_Mutation SNP T T C TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr10:5842629T>C ENST00000380191.4 - 2 375 c.85A>G c.(85-87)Aaa>Gaa p.K29E GDI2_ENST00000380132.4_Missense_Mutation_p.K33E|GDI2_ENST00000380181.3_Missense_Mutation_p.K29E NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 29 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 TGAAGAACTTTCTTGCCATTC 0.363000 33 67 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 23 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967568 106967568 + Missense_Mutation SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr6:106967568G>A ENST00000369066.3 + 2 1748 c.1261G>A c.(1261-1263)Gaa>Aaa p.E421K NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 421 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CCTTGTACTTGAAAATGTAAC 0.473000 18 51 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13753238 13753238 + Silent SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr20:13753238C>T ENST00000202816.1 - 5 1280 c.1173G>A c.(1171-1173)aaG>aaA p.K391K NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TCATCCTCTCCTTTCCAAATT 0.353000 12 77 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 33 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125175105 125175105 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr2:125175105C>T ENST00000431078.1 + 4 831 c.467C>T c.(466-468)cCc>cTc p.P156L NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 156 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CGCTTTGTGCCCCTGGAATGG 0.488000 7 17 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132231901 132231901 + Silent SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr3:132231901C>T ENST00000260818.6 + 45 5591 c.5343C>T c.(5341-5343)ctC>ctT p.L1781L NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1781 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TTTCTCTTCTCCGAGTTCATG 0.383000 18 50 0 0 1 0 0 CNNM1 26507 broad.mit.edu 37 10 101090713 101090713 + Missense_Mutation SNP G G C TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr10:101090713G>C ENST00000356713.4 + 1 1858 c.1569G>C c.(1567-1569)aaG>aaC p.K523N CNNM1_ENST00000370528.3_Missense_Mutation_p.K452N|CNNM1_ENST00000370534.4_Missense_Mutation_p.K158N|CNNM1_ENST00000446890.1_Missense_Mutation_p.K452N NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 523 CBS 2. ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) AGGAGTTTAAGAAGGGTGAGC 0.517000 32 49 0 0 1 0 0 FUT4 2526 broad.mit.edu 37 11 94277440 94277440 + Silent SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr11:94277440G>A ENST00000358752.2 + 1 424 c.141G>A c.(139-141)gtG>gtA p.V47V NM_002033.3 NP_002024.1 P22083 FUT4_HUMAN fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 47 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GACGGGCGGTGCCCGGTTGGG 0.761000 13 13 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237794725 237794725 + Splice_Site SNP A A G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr1:237794725A>G ENST00000366574.2 + 42 6757 c.e42-1 RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTCCTTTCTAGGGATATTAT 0.403000 22 17 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38280866 38280866 + Missense_Mutation SNP A A G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr1:38280866A>G ENST00000373036.4 - 11 2344 c.2204T>C c.(2203-2205)aTt>aCt p.I735T NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 735 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TAGTGCTTCAATGGGAATCAG 0.552000 32 45 0 0 1 0 0 HTRA2 27429 broad.mit.edu 37 2 74757203 74757203 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr2:74757203C>T ENST00000258080.3 + 1 700 c.70C>T c.(70-72)Cgc>Tgc p.R24C HTRA2_ENST00000352222.3_Missense_Mutation_p.R24C|HTRA2_ENST00000467961.1_Intron NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 24 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding p.R24C(1) endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 GGGGGGCATTCGCTGGGGGAG 0.711000 20 40 0 0 1 0 0 ALKBH6 84964 broad.mit.edu 37 19 36501939 36501939 + Missense_Mutation SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr19:36501939G>A ENST00000486389.1 - 4 872 c.124C>T c.(124-126)Cct>Tct p.P42S ALKBH6_ENST00000485128.1_Missense_Mutation_p.P65S|ALKBH6_ENST00000378875.3_Missense_Mutation_p.P93S|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000252984.7_Missense_Mutation_p.P65S|ALKBH6_ENST00000495116.2_Intron Q3KRA9 ALKB6_HUMAN alkB, alkylation repair homolog 6 (E. coli) 65 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 9 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CGGGGATGAGGAAGCCCACCT 0.602000 9 14 0 0 1 0 0 SPOCK2 9806 broad.mit.edu 37 10 73826824 73826824 + Missense_Mutation SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr10:73826824G>A ENST00000373109.2 - 8 1208 c.764C>T c.(763-765)tCc>tTc p.S255F SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.S255F|SPOCK2_ENST00000536168.1_Missense_Mutation_p.S255F NM_001244950.1 NP_001231879.1 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 255 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 GTCCAGCTTGGAGAACATCCA 0.582000 22 51 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216226313 216226313 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr2:216226313C>T ENST00000354785.4 - 46 7768 c.7399G>A c.(7399-7401)Gat>Aat p.D2467N FN1_ENST00000446046.1_Missense_Mutation_p.D2320N|FN1_ENST00000443816.1_Missense_Mutation_p.D2255N|FN1_ENST00000432072.2_Missense_Mutation_p.D2257N|FN1_ENST00000421182.1_Missense_Mutation_p.D2230N|FN1_ENST00000359671.1_Missense_Mutation_p.D2376N|FN1_ENST00000357867.4_Missense_Mutation_p.D2166N|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000356005.4_Missense_Mutation_p.D2286N|FN1_ENST00000346544.3_Missense_Mutation_p.D2201N|FN1_ENST00000345488.5_Missense_Mutation_p.D2174N|FN1_ENST00000336916.4_Missense_Mutation_p.D2345N|FN1_ENST00000323926.6_Missense_Mutation_p.D2436N P02751 FINC_HUMAN fibronectin 1 2376 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCTGTACATCTAAAGGCATG 0.373000 35 77 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27382395 27382395 + Missense_Mutation SNP A A T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr10:27382395A>T ENST00000376087.4 - 3 579 c.414T>A c.(412-414)gaT>gaA p.D138E ANKRD26_ENST00000436985.2_Missense_Mutation_p.D138E NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 138 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 CAAGATTTGGATCAGCACCAT 0.408000 28 67 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102749139 102749139 + Missense_Mutation SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr10:102749139G>A ENST00000370228.1 + 1 1357 c.1172G>A c.(1171-1173)cGc>cAc p.R391H C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Missense_Mutation_p.R391H NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 391 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GCTGGCCTCCGCTGGAGCCGC 0.552000 44 66 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1811611 1811611 + Missense_Mutation SNP C C G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr19:1811611C>G ENST00000539485.1 - 2 358 c.125G>C c.(124-126)gGc>gCc p.G42A ATP8B3_ENST00000525591.1_5'UTR|ATP8B3_ENST00000526092.1_5'UTR|ATP8B3_ENST00000310127.6_Missense_Mutation_p.G42A O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 42 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCGCGGATGCCAGCAGGACC 0.677000 8 23 0 0 1 0 0 KANSL2 54934 broad.mit.edu 37 12 49054304 49054304 + Missense_Mutation SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr12:49054304G>A ENST00000550347.1 - 7 1664 c.1621C>T c.(1621-1623)Ccc>Tcc p.P541S KANSL2_ENST00000420613.2_Missense_Mutation_p.P358S|KANSL2_ENST00000553086.1_Missense_Mutation_p.P358S|KANSL2_ENST00000548701.1_5'UTR Q9H9L4 CL041_HUMAN KAT8 regulatory NSL complex subunit 2 358 GGGCAGCAGGGATCCTCAGAG 0.522000 15 17 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100523650 100523650 + Missense_Mutation SNP A A T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr8:100523650A>T ENST00000358544.2 + 29 4729 c.4618A>T c.(4618-4620)Aca>Tca p.T1540S VPS13B_ENST00000357162.2_Missense_Mutation_p.T1515S|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1540 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCATACACTGACATCCCGCAA 0.363000 23 25 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14862664 14862664 + Missense_Mutation SNP G G C TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr3:14862664G>C ENST00000285046.5 + 1 2196 c.2086G>C c.(2086-2088)Gac>Cac p.D696H FGD5_ENST00000543601.1_Missense_Mutation_p.D455H NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 696 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TCTGGAAGTTGACCGGAGAAG 0.527000 15 31 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11832 11832 + Nonsense_Mutation SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chrM:11832G>A ENST00000361381.2 + 1 1073 c.1073G>A c.(1072-1074)tGa>tAa p.358_358ins* mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 AATAGCTTTTTGATGACTTCT 0.443000 86 3 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11155844 11155844 + Missense_Mutation SNP C C G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr1:11155844C>G ENST00000544779.1 - 3 348 c.343G>C c.(343-345)Gat>Cat p.D115H EXOSC10_ENST00000304457.7_Missense_Mutation_p.D115H|EXOSC10_ENST00000376936.4_Missense_Mutation_p.D115H Q01780 EXOSX_HUMAN exosome component 10 115 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) TCATTGGCATCAACTAGTAAA 0.423000 43 97 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162274722 162274722 + Silent SNP C C G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr2:162274722C>G ENST00000389554.3 + 3 1175 c.858C>G c.(856-858)gtC>gtG p.V286V TBR1_ENST00000410035.1_5'UTR NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 286 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 GAAATCGGGTCTATATGCATC 0.463000 15 31 0 0 1 0 0 NKAPP1 0 broad.mit.edu 37 X 119374187 119374187 + RNA SNP G G C TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chrX:119374187G>C ENST00000592037.1 - 0 4888 CCTTTCACTTGAATGACTAGA 0.269000 9 14 0 0 1 0 0 ECHS1 1892 broad.mit.edu 37 10 135179592 135179592 + Silent SNP G G C TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr10:135179592G>C ENST00000368547.3 - 6 982 c.627C>G c.(625-627)gtC>gtG p.V209V NM_004092.3 NP_004083.3 P30084 ECHM_HUMAN enoyl CoA hydratase, short chain, 1, mitochondrial 209 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 10 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) AAATCTTGCTGACAAGACCTG 0.478000 27 39 0 0 1 0 0 H1FX 8971 broad.mit.edu 37 3 129034703 129034703 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr3:129034703C>T ENST00000333762.4 - 1 417 c.43G>A c.(43-45)Gag>Aag p.E15K H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000433902.2_RNA NM_006026.3 NP_006017.1 Q92522 H1X_HUMAN H1 histone family, member X 15 nucleosome assembly nucleosome|nucleus DNA binding kidney(1)|ovary(1)|urinary_tract(2) 4 GCCATTCCCTCGGCGGTCGTC 0.652000 3 9 0 0 1 0 0 STXBP3 6814 broad.mit.edu 37 1 109337503 109337503 + Missense_Mutation SNP A A G TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr1:109337503A>G ENST00000370008.3 + 13 1134 c.1084A>G c.(1084-1086)Ata>Gta p.I362V NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 362 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) CAAGCTTAATATAGAAAAGCT 0.313000 21 41 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61895702 61895702 + Silent SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr11:61895702C>T ENST00000394818.3 + 2 271 c.69C>T c.(67-69)ctC>ctT p.L23L INCENP_ENST00000278849.4_Silent_p.L23L NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 23 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TGGAGTTTCTCTGCAACATGG 0.567000 21 34 0 0 1 0 0 RANBP3L 202151 broad.mit.edu 37 5 36253804 36253804 + Missense_Mutation SNP A A T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr5:36253804A>T ENST00000296604.3 - 12 1597 c.1112T>A c.(1111-1113)gTa>gAa p.V371E RANBP3L_ENST00000502994.1_Missense_Mutation_p.V396E NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 371 RanBD1. intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) TGTTATTCGTACATTTTTGTG 0.348000 19 44 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38944564 38944564 + Missense_Mutation SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr5:38944564C>T ENST00000357387.3 - 36 4927 c.4897G>A c.(4897-4899)Gag>Aag p.E1633K RICTOR_ENST00000296782.5_Missense_Mutation_p.E1657K NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1633 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding p.E1633Q(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) AGCCCAGTCTCATGACATTTA 0.323000 58 152 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 18 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 43 0 0 1 0 0 SPOCK2 9806 broad.mit.edu 37 10 73826826 73826826 + Silent SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr10:73826826G>A ENST00000373109.2 - 8 1206 c.762C>T c.(760-762)ttC>ttT p.F254F SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Silent_p.F254F|SPOCK2_ENST00000536168.1_Silent_p.F254F NM_001244950.1 NP_001231879.1 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 254 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CCAGCTTGGAGAACATCCAGC 0.577000 20 51 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839704 62839704 + Silent SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr20:62839704C>T ENST00000536311.1 + 7 1519 c.1155C>T c.(1153-1155)atC>atT p.I385I MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.I385I Q01538 MYT1_HUMAN myelin transcription factor 1 385 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGCAGGCCATCGCCCTGAAGG 0.657000 22 40 0 0 1 0 0 NPIPB15 440348 broad.mit.edu 37 16 74425609 74425609 + Missense_Mutation SNP C C G rs710958 TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr16:74425609C>G ENST00000429990.1 + 7 1059 c.963C>G c.(961-963)gaC>gaG p.D321E nuclear pore complex interacting protein family, member B15 ATCTGAAGGACTGTCTCTTTG 0.522000 4 132 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84519424 84519424 + Missense_Mutation SNP G G A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chrX:84519424G>A ENST00000360700.4 + 5 1652 c.766G>A c.(766-768)Gat>Aat p.D256N ZNF711_ENST00000276123.3_Missense_Mutation_p.D256N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D234N|ZNF711_ENST00000373165.3_Missense_Mutation_p.D256N|ZNF711_ENST00000542798.1_Missense_Mutation_p.D52N Q9Y462 ZN711_HUMAN zinc finger protein 711 256 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 GGCTGAAGATGATGTTGAAAT 0.308000 14 24 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34140563 34140563 + Silent SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr15:34140563C>T ENST00000389232.4 + 94 13639 c.13569C>T c.(13567-13569)acC>acT p.T4523T RYR3_ENST00000415757.3_Silent_p.T4518T|RYR3_ENST00000559917.1_3'UTR NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4523 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TATATATCACCGAACAGCCAT 0.502000 22 71 0 0 1 0 0 DNAJC3 5611 broad.mit.edu 37 13 96439369 96439369 + Silent SNP C C T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr13:96439369C>T ENST00000602402.1 + 11 1434 c.1317C>T c.(1315-1317)ttC>ttT p.F439F DNAJC3_ENST00000376795.6_Silent_p.F388F NM_006260.4 NP_006251.1 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 439 J. protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) AGAAAAAGTTCATTGATATAG 0.383000 33 70 0 0 1 0 0 GBE1 2632 broad.mit.edu 37 3 81754624 81754624 + Missense_Mutation SNP G G T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr3:81754624G>T ENST00000429644.2 - 2 927 c.284C>A c.(283-285)gCa>gAa p.A95E GBE1_ENST00000489715.1_Missense_Mutation_p.A54E NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 95 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) AACTCCTTCTGCTCCCGGGGC 0.343000 Glycogen Storage Disease, type IV 3 5 0.115264 0.115264 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16948832 16948833 + RNA INS - - A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr1:16948832_16948833insA ENST00000412962.1 - 0 1000 tgcctacctagaatggcattaa 0.520 2 4 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152127881 152127884 + Frame_Shift_Del DEL TGTC TGTC - TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr1:152127881_152127884delTGTC ENST00000316073.3 - 3 1755_1758 c.1691_1694delGACA c.(1690-1695)aafs p.RQ564fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 564 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GCTCTGGCCTTGTCTGTCTGTCTG 0.485 8 998 --- --- --- --- CCDC110 256309 broad.mit.edu 37 4 186366679 186366680 + Frame_Shift_Ins INS - - T TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr4:186366679_186366680insT ENST00000307588.3 - 7 2553_2554 c.2478_2479insA c.(2476-2481)aaacagfs p.Q827fs C4orf47_ENST00000378850.4_Intron|CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.Q790fs NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 827 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) AGAGTTCTGTCTTTAACTTTGA 0.302 21 48 --- --- --- --- MDC1 9656 broad.mit.edu 37 6 30671451 30671452 + Frame_Shift_Del DEL CT CT - rs77465266 byFrequency TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr6:30671451_30671452delCT ENST00000376406.3 - 10 6155_6156 c.5508_5509delAG c.(5506-5511)actgfs p.TV1836fs MDC1_ENST00000376405.2_Frame_Shift_Del_p.TV1572fs|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1836 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TTGATAATCACTGTCTTCTGGG 0.505 Other conserved DNA damage response genes 61 99 --- --- --- --- POLR2J4 0 broad.mit.edu 37 7 44001630 44001631 + RNA INS - - A TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr7:44001630_44001631insA ENST00000427076.1 - 0 1485_1486 NR_003655.2 GTAGTAGCTGGAGGGCAGCACC 0.668 2 4 --- --- --- --- SPATA31D5P 0 broad.mit.edu 37 9 84528612 84528614 + RNA DEL TTG TTG - TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr9:84528612_84528614delTTG ENST00000527857.1 + 0 221 NR_026851.1 AGATTCCCTCTTGTTGTTTCCCA 0.389 6 2 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46215248 46215257 + Frame_Shift_Del DEL AGACTGATAG AGACTGATAG - TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr12:46215248_46215257delAGACTGATAG ENST00000334344.6 + 6 855_864 c.683_692delAGACTGATAG c.(682-693)aafs p.KTDR228fs ARID2_ENST00000422737.1_Frame_Shift_Del_p.KTDR79fs NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 228 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGGAAAGAGAAGACTGATAGAGACTTCGTT 0.281 """N, S, F""" hepatocellular carcinoma 9 60 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102296030 102296032 + RNA DEL CTC CTC - TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr15:102296030_102296032delCTC ENST00000561463.1 + 0 4076_4078 AGTTCATCTTCTCGGAGCTGCTG 0.596 2 4 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-4C-A93U-01A-11D-A397-08 TCGA-4C-A93U-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c040cc-1df1-4452-883b-be129a96e900 c986caeb-185d-46b6-97b7-444b7f6c3095 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 4 7 --- --- --- ---