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 TMEM217 221468 broad.mit.edu 37 6 37186257 37186257 + Missense_Mutation SNP T T C TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr6:37186257T>C ENST00000336655.2 - 2 589 c.550A>G c.(550-552)Att>Gtt p.I184V TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.I184V NM_145316.3 NP_660359.2 Q8N7C4 TM217_HUMAN transmembrane protein 217 184 integral to membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(1) 9 ccACTCGAAATTGATAATCTT 0.478000 4 113 0 0 0.000248 0 0 SYNGR1 9145 broad.mit.edu 37 22 39770548 39770548 + Silent SNP C C T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr22:39770548C>T ENST00000328933.5 + 2 342 c.327C>T c.(325-327)atC>atT p.I109I SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000216155.7_Silent_p.I109I|SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I NM_004711.4 NP_004702.2 synaptogyrin 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 7 Melanoma(58;0.04) TGTCCGACATCGGTGTCTCGG 0.632000 23 39 0 0 0.003954 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 3 96 0 0 0.000248 0 0 RUVBL2 10856 broad.mit.edu 37 19 49507640 49507640 + Missense_Mutation SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr19:49507640G>A ENST00000413176.2 + 4 1243 c.95G>A c.(94-96)gGc>gAc p.G32D RUVBL2_ENST00000595090.1_Missense_Mutation_p.G77D|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G32D Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 77 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) CTTATTGCTGGCCAGCCGGGC 0.617000 4 138 0 0 0.000602 0 0 TNN 63923 broad.mit.edu 37 1 175054615 175054615 + Silent SNP C C T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr1:175054615C>T ENST00000239462.4 + 6 1422 c.1309C>T c.(1309-1311)Ctg>Ttg p.L437L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 437 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCCGATCCTCCTGAATGGCAG 0.517000 6 12 0 0 0.001984 0 0 CLASP2 23122 broad.mit.edu 37 3 33552113 33552113 + Missense_Mutation SNP T T C TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr3:33552113T>C ENST00000399362.4 - 37 4628 c.4275A>G c.(4273-4275)atA>atG p.I1425M CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1426M|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 1427 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 ACACTCTCTCTATCACTTTTG 0.413000 9 61 0 0 0.008291 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332492 22332492 + RNA SNP A A C TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr15:22332492A>C ENST00000558896.1 + 0 299 TATTTCTCTTATTACTATTTT 0.383000 4 156 0 0 0.001984 0 0 CTPS2 56474 broad.mit.edu 37 X 16720991 16720991 + Nonsense_Mutation SNP G G T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chrX:16720991G>T ENST00000443824.1 - 2 778 c.35C>A c.(34-36)tCa>tAa p.S12* CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*|CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12* NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 12 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) ACCAATGCCTGAGATGACCCC 0.438000 5 72 4.096e-09 8.35918e-09 0.001168 1 0 DACH2 117154 broad.mit.edu 37 X 86068206 86068206 + Missense_Mutation SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chrX:86068206G>A ENST00000373131.1 + 8 1587 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q|DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.R488Q NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 488 DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 AAGGAGCTGCGACTGGAGCTC 0.413000 9 4 0 0 0.008291 0 0 ZNF599 148103 broad.mit.edu 37 19 35260439 35260439 + Missense_Mutation SNP C C G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr19:35260439C>G ENST00000587354.1 - 2 427 c.40G>C c.(40-42)Gtg>Ctg p.V14L ZNF599_ENST00000588760.1_Missense_Mutation_p.V14L|ZNF599_ENST00000329285.7_Missense_Mutation_p.V14L Q96NL3 ZN599_HUMAN zinc finger protein 599 14 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GTCACAACCACGTCTTCAAAT 0.532000 3 115 0 0 0.000248 0 0 NLRP14 338323 broad.mit.edu 37 11 7064143 7064143 + Missense_Mutation SNP G G T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr11:7064143G>T ENST00000299481.4 + 4 1232 c.886G>T c.(886-888)Gtg>Ttg p.V296L NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 296 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GCTGAGGAAAGTGATGCTCCC 0.448000 13 53 4.3838e-07 8.7676e-07 0.001855 1 0 SLC38A4 55089 broad.mit.edu 37 12 47163194 47163194 + Missense_Mutation SNP G G C TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr12:47163194G>C ENST00000447411.1 - 14 1523 c.1317C>G c.(1315-1317)atC>atG p.I439M SLC38A4_ENST00000266579.4_Missense_Mutation_p.I439M NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 439 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) ATAACAGTGTGATCACTGATG 0.363000 12 60 0 0 0.001368 0 0 SLC39A2 29986 broad.mit.edu 37 14 21469223 21469223 + Missense_Mutation SNP G G A rs144375696 byFrequency TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr14:21469223G>A ENST00000298681.4 + 4 572 c.415G>A c.(415-417)Gaa>Aaa p.E139K SLC39A2_ENST00000554422.1_3'UTR NM_014579.3 NP_055394.2 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), member 2 139 cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) AGTGCAGGACGAAGAATGGGG 0.547000 32 164 0 0 0.001786 0 0 ENPP2 0 broad.mit.edu 37 8 120575111 120575111 + Nonsense_Mutation SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr8:120575111C>A ENST00000427067.2 - 25 2650 c.2470G>T c.(2470-2472)Gag>Tag p.E824* ENPP2_ENST00000522167.1_Nonsense_Mutation_p.E438*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.E855*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.E828*|ENPP2_ENST00000075322.6_Nonsense_Mutation_p.E803* Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 803 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CAGCTCTCCTCGTTGTCAGGC 0.483000 5 79 3.59834e-05 6.91988e-05 0.001168 1 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 5 64 0 0 0.001168 0 0 DCHS2 54798 broad.mit.edu 37 4 155157178 155157178 + Missense_Mutation SNP A A G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr4:155157178A>G ENST00000357232.3 - 25 7260 c.7261T>C c.(7261-7263)Ttt>Ctt p.F2421L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2421 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATGGGCTCAAATTCATCTATC 0.433000 3 53 0 0 0.000602 0 0 PAX4 5078 broad.mit.edu 37 7 127255106 127255106 + Missense_Mutation SNP C C T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr7:127255106C>T ENST00000341640.2 - 2 369 c.164G>A c.(163-165)cGc>cAc p.R55H PAX4_ENST00000338516.3_Missense_Mutation_p.R63H|PAX4_ENST00000378740.2_Missense_Mutation_p.R55H|PAX4_ENST00000463946.1_Missense_Mutation_p.R53H NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 63 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GACACCTGTGCGGTAGTAACG 0.572000 27 114 0 0 0.005443 0 0 CD3G 917 broad.mit.edu 37 11 118223127 118223127 + Silent SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr11:118223127G>A ENST00000532917.1 + 6 560 c.492G>A c.(490-492)aaG>aaA p.K164K CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Silent_p.K60K NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 164 ITAM. establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) AGCCCCTCAAGGATCGAGAAG 0.393000 74 118 0 0 0.003610 0 0 FSTL5 56884 broad.mit.edu 37 4 162680679 162680679 + Missense_Mutation SNP A A G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr4:162680679A>G ENST00000306100.5 - 6 1047 c.611T>C c.(610-612)aTa>aCa p.I204T FSTL5_ENST00000379164.4_Missense_Mutation_p.I203T|FSTL5_ENST00000536695.1_Missense_Mutation_p.I203T|FSTL5_ENST00000427802.2_Missense_Mutation_p.I203T NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 204 EF-hand 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTCCTGTTTTATCACCTAACA 0.274000 11 53 0 0 0.000978 0 0 CELA2B 51032 broad.mit.edu 37 1 15802967 15802967 + Missense_Mutation SNP T T A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr1:15802967T>A ENST00000375910.3 + 2 81 c.56T>A c.(55-57)gTc>gAc p.V19D CELA2B_ENST00000494280.1_3'UTR NM_015849.2 NP_056933.2 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 19 proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 AGTTGTGGGGTCTCCACTTAC 0.527000 5 156 0 0 0.000602 0 0 PEG3 5178 broad.mit.edu 37 19 57328000 57328000 + Missense_Mutation SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr19:57328000G>A ENST00000326441.9 - 10 2173 c.1810C>T c.(1810-1812)Cgc>Tgc p.R604C ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R480C|PEG3_ENST00000593695.1_Missense_Mutation_p.R478C|PEG3_ENST00000423103.2_Missense_Mutation_p.R604C NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 604 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R604C(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GTTTCCCCGCGCtcacgttca 0.458000 5 39 0 0 0.001168 0 0 IQCH 64799 broad.mit.edu 37 15 67664646 67664646 + Silent SNP C C T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr15:67664646C>T ENST00000335894.4 + 9 1017 c.951C>T c.(949-951)gtC>gtT p.V317V IQCH_ENST00000358767.3_Silent_p.V144V|IQCH_ENST00000546225.1_Silent_p.V65V|IQCH_ENST00000360277.4_Silent_p.V69V NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 317 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TACCAGAAGTCAAAATAAAAG 0.418000 4 120 0 0 0.000602 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471819 61471819 + Missense_Mutation SNP A A T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr18:61471819A>T ENST00000398019.2 + 8 1418 c.1093A>T c.(1093-1095)Atc>Ttc p.I365F SERPINB7_ENST00000540675.1_Missense_Mutation_p.I348F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.I365F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.I365F NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 365 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) CCTATTTGTTATCAGGAAGGA 0.453000 4 90 0 0 0.000248 0 0 SP110 3431 broad.mit.edu 37 2 231033887 231033887 + Missense_Mutation SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr2:231033887G>A ENST00000258381.6 - 19 2172 c.2095C>T c.(2095-2097)Ctc>Ttc p.L699F SP110_ENST00000358662.4_Missense_Mutation_p.L675F NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 675 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TGAAAACCGAGCACGTCTTTG 0.458000 74 151 0 0 0.003610 0 0 CLCN3 0 broad.mit.edu 37 4 170625197 170625197 + Missense_Mutation SNP G G C TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr4:170625197G>C ENST00000513761.1 + 10 2171 c.1612G>C c.(1612-1614)Gga>Cga p.G538R CLCN3_ENST00000504131.2_Missense_Mutation_p.G521R|CLCN3_ENST00000347613.4_Missense_Mutation_p.G538R|CLCN3_ENST00000360642.3_Missense_Mutation_p.G511R NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 538 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) AGCGATCGCAGGAAGGATTGT 0.507000 13 70 0 0 0.001855 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 3 31 0 0 0.000248 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 51 0 0 0.003080 0 0 LCE1D 353134 broad.mit.edu 37 1 152770502 152770502 + Missense_Mutation SNP C C T rs142021851 TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr1:152770502C>T ENST00000326233.6 + 2 275 c.232C>T c.(232-234)Cgc>Tgc p.R78C NM_178352.2 NP_848129.1 Q5T752 LCE1D_HUMAN late cornified envelope 1D 78 Cys-rich. R -> H (in dbSNP:rs41268490). cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm large_intestine(1) 1 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCACCACAGGCGCCACAGGTC 0.716000 6 67 0 0 0.001168 0 0 ANK1 286 broad.mit.edu 37 8 41557063 41557063 + Missense_Mutation SNP T T G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr8:41557063T>G ENST00000396942.1 - 23 2548 c.2465A>C c.(2464-2466)gAa>gCa p.E822A ANK1_ENST00000289734.7_Missense_Mutation_p.E822A|ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000379758.2_Missense_Mutation_p.E822A|ANK1_ENST00000347528.4_Missense_Mutation_p.E822A|ANK1_ENST00000265709.8_Missense_Mutation_p.E863A P16157 ANK1_HUMAN ankyrin 1, erythrocytic 822 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GATGAGTTCTTCCCCTGAAAC 0.522000 50 155 0 0 0.003610 0 0 PREP 5550 broad.mit.edu 37 6 105821366 105821366 + Missense_Mutation SNP A A C TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr6:105821366A>C ENST00000369110.3 - 5 665 c.473T>G c.(472-474)gTt>gGt p.V158G NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase 158 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) GGCACCATCAACTTTCATGAA 0.473000 10 83 0 0 0.006214 0 0 RGS6 9628 broad.mit.edu 37 14 72976881 72976881 + Nonsense_Mutation SNP C C T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr14:72976881C>T ENST00000553530.1 + 14 1192 c.985C>T c.(985-987)Cga>Tga p.R329* RGS6_ENST00000434263.2_Nonsense_Mutation_p.R260*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.R190*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000402788.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000404301.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.R292*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.R329*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.R329*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.R329* NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 329 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAGCCAACAGCGAGTAAAAAG 0.458000 6 191 0 0 0.001168 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12884845 12884845 + Silent SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr1:12884845G>A ENST00000535591.1 - 4 1461 c.1266C>T c.(1264-1266)ggC>ggT p.G422G NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 422 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATGACCTGTCGCCATGGTCAG 0.473000 11 367 0 0 0.000978 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940276 82940276 + Silent SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr5:82940276C>A ENST00000274341.4 - 4 1531 c.681G>T c.(679-681)ggG>ggT p.G227G NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 227 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) TGTTCTGCCCCCCACAGGGCT 0.517000 19 87 1.87028e-06 3.66722e-06 0.001882 1 0 STRN4 29888 broad.mit.edu 37 19 47236332 47236332 + Nonsense_Mutation SNP G G T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr19:47236332G>T ENST00000391910.3 - 5 1151 c.701C>A c.(700-702)tCg>tAg p.S234* STRN4_ENST00000263280.6_Nonsense_Mutation_p.S234*|STRN4_ENST00000539396.1_Nonsense_Mutation_p.S115* Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 234 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CACCAGCAGCGACTCCCCACC 0.647000 6 36 0.00116845 0.00220461 0.001168 1 0 SLC2A9 56606 broad.mit.edu 37 4 9982359 9982359 + Missense_Mutation SNP C C T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr4:9982359C>T ENST00000506583.1 - 7 668 c.451G>A c.(451-453)Gtc>Atc p.V151I SLC2A9_ENST00000309065.3_Missense_Mutation_p.V151I|SLC2A9_ENST00000264784.3_Missense_Mutation_p.V180I Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 180 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CTGAGGGCGACGCCTGTAGAG 0.557000 4 43 0 0 0.000248 0 0 MAML3 55534 broad.mit.edu 37 4 140641036 140641036 + Missense_Mutation SNP A A T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr4:140641036A>T ENST00000509479.2 - 5 3714 c.2858T>A c.(2857-2859)aTg>aAg p.M953K MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 949 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GACTGTTCCCATAAGGCTCTG 0.577000 55 79 0 0 0.003610 0 0 LINC00336 0 broad.mit.edu 37 6 33561062 33561062 + RNA SNP C C T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr6:33561062C>T ENST00000477984.1 - 0 53 NR_027908.1 CCACGACTGCCAGGCCACCCC 0.687000 7 15 0 0 0.003080 0 0 MYOF 26509 broad.mit.edu 37 10 95089443 95089443 + Missense_Mutation SNP C C T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr10:95089443C>T ENST00000371501.4 - 44 5082 c.4960G>A c.(4960-4962)Ggc>Agc p.G1654S MYOF_ENST00000359263.4_Missense_Mutation_p.G1654S|MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000371502.4_Missense_Mutation_p.G1673S|MYOF_ENST00000358334.5_Missense_Mutation_p.G1641S Q9NZM1 MYOF_HUMAN myoferlin 1654 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TCTGGTATGCCGCAGTGGGAC 0.483000 5 63 0 0 0.001168 0 0 RTL1 388015 broad.mit.edu 37 14 101349274 101349274 + Missense_Mutation SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr14:101349274G>A ENST00000534062.1 - 1 1910 c.1852C>T c.(1852-1854)Cct>Tct p.P618S NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 618 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 GCACCCACAGGTTCCCAAGGC 0.542000 6 40 0 0 0.001168 0 0 VCAM1 7412 broad.mit.edu 37 1 101188742 101188742 + Missense_Mutation SNP C C G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr1:101188742C>G ENST00000294728.2 + 3 608 c.507C>G c.(505-507)gaC>gaG p.D169E VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E|VCAM1_ENST00000370115.1_Missense_Mutation_p.D169E|VCAM1_ENST00000347652.2_Missense_Mutation_p.D169E NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 169 Ig-like C2-type 2. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGGATGCAGACAGGAAGTCCC 0.418000 13 43 0 0 0.001368 0 0 ALG12 79087 broad.mit.edu 37 22 50297538 50297538 + Missense_Mutation SNP A A G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr22:50297538A>G ENST00000330817.5 - 10 1688 c.1415T>C c.(1414-1416)gTc>gCc p.V472A NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase 472 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) CTGCAGGTGGACGTTGAAGGG 0.657000 3 114 0 0 0.004672 0 0 GPATCH1 55094 broad.mit.edu 37 19 33602720 33602720 + Missense_Mutation SNP C C G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr19:33602720C>G ENST00000170564.2 + 12 1990 c.1676C>G c.(1675-1677)gCa>gGa p.A559G NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 559 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) CTGCTGTACGCATCTTCCCAT 0.607000 3 119 0 0 0.004672 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43650664 43650664 + Missense_Mutation SNP T T A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr10:43650664T>A ENST00000374466.3 + 2 402 c.67T>A c.(67-69)Tgc>Agc p.C23S CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.C23S NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 23 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGCTTTGCTCTGCAGTTTGGT 0.438000 5 84 0 0 0.001168 0 0 ANKS1B 56899 broad.mit.edu 37 12 99837459 99837459 + Nonsense_Mutation SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr12:99837459G>A ENST00000547776.2 - 11 1566 c.1567C>T c.(1567-1569)Cga>Tga p.R523* ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.R523*|ANKS1B_ENST00000547010.1_Nonsense_Mutation_p.R103* NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 523 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ACCTGGGGTCGAATGACTTTT 0.423000 4 84 0 0 0.000248 0 0 CEBPB 1051 broad.mit.edu 37 20 48807874 48807885 + In_Frame_Del DEL CCCGCGCCCGCC CCCGCGCCCGCC - TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr20:48807874_48807885delCCCGCGCCCGCC ENST00000303004.3 + 1 499_510 c.304_315delCCCGCGCCCGCC c.(304-315)del p.PAPA106del NM_005194.3 NP_005185.2 P17676 CEBPB_HUMAN CCAAT/enhancer binding protein (C/EBP), beta 106 acute-phase response|immune response sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19) GGCGGCTccgcccgcgcccgcccccgcgcccg 0.745 3 3 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 7 122 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 3 6 --- --- --- ---