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 BRMS1L 84312 broad.mit.edu 37 14 36302283 36302283 + Missense_Mutation SNP A A C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr14:36302283A>C ENST00000216807.7 + 3 532 c.333A>C c.(331-333)gaA>gaC p.E111D BRMS1L_ENST00000543183.1_Missense_Mutation_p.E63D NM_032352.3 NP_115728.2 Q5PSV4 BRM1L_HUMAN breast cancer metastasis-suppressor 1-like 111 regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(36;0.137)|Hepatocellular(127;0.158) Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158) GBM - Glioblastoma multiforme(112;0.0333) CTTTACAGGAAAATATGCAAA 0.363000 5 63 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114134802 114134802 + Missense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr9:114134802C>T ENST00000259335.4 - 43 4968 c.4969G>A c.(4969-4971)Gca>Aca p.A1657T KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.A1479T NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 CCTAAAAATGCCAGAGGCAGG 0.403000 10 82 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574289 140574289 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr5:140574289G>T ENST00000239446.4 + 1 2348 c.2164G>T c.(2164-2166)Gcc>Tcc p.A722S NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 722 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCAGGGCGGCCTCGGTGGG 0.662000 36 113 1.96642e-18 2.85352e-18 1 1 0 OR10J3 441911 broad.mit.edu 37 1 159283532 159283532 + Silent SNP C C G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:159283532C>G ENST00000332217.5 - 1 917 c.918G>C c.(916-918)ggG>ggC p.G306G NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) AGTTTTTTGCCCCACGGCTCT 0.428000 26 95 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89104958 89104958 + RNA SNP A A G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:89104958A>G ENST00000393525.3 + 0 4898 AATTCAAATCATTGATTTCTG 0.289000 3 7 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20386184 20386184 + Missense_Mutation SNP C C G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr16:20386184C>G ENST00000302451.4 - 5 889 c.641G>C c.(640-642)cGt>cCt p.R214P NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 214 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 GACGTGGAAACGCCCAATGAC 0.433000 9 127 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41309571 41309571 + Missense_Mutation SNP T T C rs151035226 TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr6:41309571T>C ENST00000373083.4 + 3 656 c.434T>C c.(433-435)cTg>cCg p.L145P NCR2_ENST00000373086.3_Missense_Mutation_p.L145P|NCR2_ENST00000373089.5_Missense_Mutation_p.L145P NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 145 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) CCCCGCGACCTGGTCTCTTCA 0.612000 13 56 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44839252 44839252 + Missense_Mutation SNP A A C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr21:44839252A>C ENST00000270162.6 - 10 1358 c.1226T>G c.(1225-1227)cTc>cGc p.L409R NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 409 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 CGAGCTCTGGAGCTCACAGTC 0.677000 4 26 0 0 1 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709413 31709413 + Missense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr21:31709413C>T ENST00000382835.2 - 1 599 c.574G>A c.(574-576)Gtt>Att p.V192I NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 192 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 GTTGGTTCAACTCCTGGAGAA 0.438000 25 52 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39580583 39580583 + Missense_Mutation SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:39580583G>A ENST00000225550.3 - 1 192 c.193C>T c.(193-195)Ccc>Tcc p.P65S AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 65 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CAGAGGCTGGGGCGGCCCAGG 0.632000 7 74 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70782820 70782820 + Missense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chrX:70782820C>T ENST00000373719.3 + 16 2318 c.2101C>T c.(2101-2103)Cac>Tac p.H701Y OGT_ENST00000373701.3_Missense_Mutation_p.H691Y NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 701 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TTATATGCCCCACACTTTTTT 0.403000 35 94 0 0 1 0 0 VSNL1 7447 broad.mit.edu 37 2 17830765 17830765 + Missense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:17830765A>T ENST00000406397.1 + 3 776 c.251A>T c.(250-252)gAg>gTg p.E84V VSNL1_ENST00000404666.2_Missense_Mutation_p.E84V|VSNL1_ENST00000295156.4_Missense_Mutation_p.E84V P62760 VISL1_HUMAN visinin-like 1 84 EF-hand 2. calcium ion binding NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GACTTCCGAGAGTTCATCTGC 0.527000 15 141 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47869697 47869697 + Missense_Mutation SNP A A G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr7:47869697A>G ENST00000289672.2 - 43 6549 c.6499T>C c.(6499-6501)Tgg>Cgg p.W2167R NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2167 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGGTGCAGCCACTGCACACAT 0.567000 16 18 0 0 1 0 0 FAN1 22909 broad.mit.edu 37 15 31222863 31222863 + Missense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr15:31222863C>A ENST00000362065.4 + 13 3196 c.2905C>A c.(2905-2907)Cgt>Agt p.R969S NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 969 VRR-NUC. double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 CTCCCAGAGCCGTCACTTTAA 0.557000 Direct reversal of damage 12 66 4.3838e-07 5.32122e-07 1 1 0 TRIM51HP 440041 broad.mit.edu 37 11 55062927 55062927 + RNA SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr11:55062927C>T ENST00000526016.1 - 0 710 NR_038174.2 ACCCCATGGTCAGTTCGTACT 0.428000 15 34 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57110750 57110750 + Missense_Mutation SNP G G A rs150288570 TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr16:57110750G>A ENST00000262510.6 + 40 4996 c.4771G>A c.(4771-4773)Ggt>Agt p.G1591S NLRC5_ENST00000308149.7_Missense_Mutation_p.G1562S|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.G1562S NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1591 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GAACAGTATCGGTGATGTCGG 0.532000 8 72 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1220487 1220487 + Missense_Mutation SNP G G C rs121913315 TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr19:1220487G>C ENST00000326873.7 + 4 1753 c.580G>C c.(580-582)Gac>Cac p.D194H NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 194 Protein kinase. D -> N (in PJS).|D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAAATCTCCGACCTGGGCGT 0.677000 D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER) 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 3 6 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18881403 18881403 + Missense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:18881403C>T ENST00000388995.6 - 5 1799 c.1576G>A c.(1576-1578)Gtc>Atc p.V526I FAM83G_ENST00000345041.4_Missense_Mutation_p.V526I|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V526I A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 526 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 AGCTCCAGGACCCAGCCAATA 0.657000 10 83 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135139899 135139899 + Silent SNP T T A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr9:135139899T>A ENST00000372169.2 - 27 8030 c.7848A>T c.(7846-7848)atA>atT p.I2616I SETX_ENST00000393220.1_Silent_p.I2554I|SETX_ENST00000224140.5_Silent_p.I2587I|SETX_ENST00000477049.1_5'UTR Q7Z333 SETX_HUMAN senataxin 2587 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CGGGCTGCTGTATATGGCTCA 0.637000 28 118 0 0 1 0 0 PDC 5132 broad.mit.edu 37 1 186415579 186415579 + Silent SNP T T A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:186415579T>A ENST00000391997.2 - 3 279 c.192A>T c.(190-192)tcA>tcT p.S64S PDC_ENST00000497198.1_Silent_p.S12S|PDC_ENST00000340129.5_Silent_p.S64S|PDC_ENST00000456239.2_Silent_p.S12S NM_002597.4 NP_002588.3 P20941 PHOS_HUMAN phosducin 64 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) CTCGTTCCTTTGAATCTTTGC 0.338000 23 76 0 0 1 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545287 234545287 + Missense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:234545287C>T ENST00000344644.5 + 1 188 c.119C>T c.(118-120)aCc>aTc p.T40I UGT1A10_ENST00000373445.1_Missense_Mutation_p.T40I|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) CACTGGTTCACCATGCAGTCG 0.542000 8 151 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10439904 10439904 + Silent SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:10439904G>T ENST00000245503.5 - 17 2301 c.1917C>A c.(1915-1917)gcC>gcA p.A639A MYH2_ENST00000532183.1_Silent_p.A639A|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.A639A|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 639 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CACCTTTCTTGGCCCCTCCAC 0.423000 5 41 0.0381472 0.0389546 1 1 0 UNC5D 137970 broad.mit.edu 37 8 35624506 35624506 + Silent SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:35624506C>A ENST00000287272.2 + 14 2213 c.2193C>A c.(2191-2193)acC>acA p.T731T UNC5D_ENST00000449677.1_Silent_p.T376T|UNC5D_ENST00000416672.1_Silent_p.T805T|UNC5D_ENST00000453357.2_Silent_p.T795T|UNC5D_ENST00000404895.2_Silent_p.T800T|UNC5D_ENST00000420357.1_Silent_p.T733T Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 800 apoptosis|axon guidance integral to membrane receptor activity p.T795T(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCACTACCACCCAGCTGTCCT 0.572000 54 71 9.86064e-34 1.5104e-33 1 1 0 MFI2 4241 broad.mit.edu 37 3 196733532 196733532 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr3:196733532G>T ENST00000296350.5 - 14 1939 c.1826C>A c.(1825-1827)gCc>gAc p.A609D NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 609 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GGACACCTCGGCTCGGGCCCC 0.617000 10 22 0.00621372 0.00666248 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152722347 152722347 + Missense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr6:152722347A>T ENST00000367255.5 - 47 7556 c.6955T>A c.(6955-6957)Tgg>Agg p.W2319R SYNE1_ENST00000265368.4_Missense_Mutation_p.W2319R|SYNE1_ENST00000448038.1_Missense_Mutation_p.W2326R|SYNE1_ENST00000423061.1_Missense_Mutation_p.W2326R|SYNE1_ENST00000341594.5_Missense_Mutation_p.W2356R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2319 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTGTGAACCATGTTGTTATG 0.378000 HNSCC(10;0.0054) 13 89 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77353903 77353903 + Missense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr16:77353903C>T ENST00000282849.5 - 16 2793 c.2375G>A c.(2374-2376)cGa>cAa p.R792Q NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 792 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ACTGAGGCTTCGAACTGCGAG 0.542000 5 63 0 0 1 0 0 ZW10 9183 broad.mit.edu 37 11 113644388 113644388 + Translation_Start_Site SNP T T C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr11:113644388T>C ENST00000200135.3 - 1 145 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 1 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) AACGAGGCCATGGCCAAGACG 0.662000 26 36 0 0 1 0 0 MRPL44 65080 broad.mit.edu 37 2 224831597 224831597 + Missense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:224831597C>T ENST00000258383.3 + 4 914 c.845C>T c.(844-846)gCa>gTa p.A282V AC073641.2_ENST00000425192.1_RNA NM_022915.3 NP_075066.1 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 282 DRBM. RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) AAGTTGATTGCAGAAGGACCT 0.393000 48 83 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50472251 50472251 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr12:50472251G>T ENST00000228468.4 + 6 1270 c.885G>T c.(883-885)atG>atT p.M295I ASIC1_ENST00000447966.2_Missense_Mutation_p.M295I|ASIC1_ENST00000552438.1_Missense_Mutation_p.M329I NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 295 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CTGTTACCATGGACTCGGATT 0.607000 32 114 3.57733e-08 4.45435e-08 1 1 0 STYX 6815 broad.mit.edu 37 14 53211592 53211592 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr14:53211592G>T ENST00000354586.4 + 2 373 c.80G>T c.(79-81)cGa>cTa p.R27L STYX_ENST00000442123.2_Missense_Mutation_p.R27L|STYX_ENST00000556861.1_Intron NM_145251.3 NP_660294.1 Q8WUJ0 STYX_HUMAN serine/threonine/tyrosine interacting protein 27 protein dephosphorylation|spermatogenesis cytoplasm protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(41;0.176) CCTATGAGACGAGAGATGCAG 0.363000 6 51 0.00307968 0.0033392 1 1 0 CMYA5 202333 broad.mit.edu 37 5 79029022 79029022 + Silent SNP A A G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr5:79029022A>G ENST00000446378.2 + 2 4465 c.4434A>G c.(4432-4434)tcA>tcG p.S1478S NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1478 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TCAAAACATCATCTTCTCAGC 0.388000 26 123 0 0 1 0 0 POLR2J4 84820 broad.mit.edu 37 7 44054352 44054352 + RNA SNP T T C rs56000326 by1000genomes TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr7:44054352T>C ENST00000427076.1 - 0 209 NR_003655.2 AGCCAGCAAATAGCACTTGCG 0.577000 13 161 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112471818 112471818 + Missense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr6:112471818C>A ENST00000230538.7 - 17 2465 c.2068G>T c.(2068-2070)Gca>Tca p.A690S LAMA4_ENST00000424408.2_Missense_Mutation_p.A683S|LAMA4_ENST00000522006.1_Missense_Mutation_p.A683S|LAMA4_ENST00000389463.4_Missense_Mutation_p.A683S NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 690 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCAGCCACTGCTTCATCACTG 0.488000 19 91 4.96729e-08 6.14543e-08 1 1 0 RPS5 6193 broad.mit.edu 37 19 58905907 58905907 + Missense_Mutation SNP G G C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr19:58905907G>C ENST00000596046.1 + 4 1340 c.491G>C c.(490-492)cGg>cCg p.R164P RPS5_ENST00000598495.1_Missense_Mutation_p.R185P|RPS5_ENST00000196551.3_Missense_Mutation_p.R164P|RPS5_ENST00000601521.1_Missense_Mutation_p.R164P|RPS5_ENST00000598098.1_Missense_Mutation_p.R94P P46782 RS5_HUMAN ribosomal protein S5 164 endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|structural constituent of ribosome cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176) GCTGCCTTCCGGAACATTAAG 0.592000 8 97 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147092411 147092411 + Missense_Mutation SNP T T C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:147092411T>C ENST00000234739.3 + 8 3190 c.2450T>C c.(2449-2451)aTg>aCg p.M817T NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 817 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CTCAGTCATATGCCACCACTA 0.577000 T """IGH@, IGL@""" B-ALL 13 55 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202418 248202418 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:248202418G>T ENST00000366479.2 + 1 945 c.849G>T c.(847-849)atG>atT p.M283I OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCACCCCAATGCTCAACCCCA 0.468000 36 138 3.03874e-20 4.44301e-20 1 1 0 FN3KRP 79672 broad.mit.edu 37 17 80684397 80684397 + Silent SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:80684397G>A ENST00000269373.6 + 5 583 c.510G>A c.(508-510)cgG>cgA p.R170R FN3KRP_ENST00000535965.1_Silent_p.R120R NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 170 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) TCTATGCCCGGCAGCGCATTC 0.587000 17 161 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370728 240370728 + Silent SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:240370728C>A ENST00000319653.9 + 5 2846 c.2616C>A c.(2614-2616)ggC>ggA p.G872G NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 872 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCATGCCTGGCCTGGGCATGG 0.592000 33 108 6.90743e-12 9.13105e-12 1 1 0 FLG 2312 broad.mit.edu 37 1 152276069 152276069 + Missense_Mutation SNP T T C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:152276069T>C ENST00000368799.1 - 3 11328 c.11293A>G c.(11293-11295)Agg>Ggg p.R3765G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3765 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCCTCTCCTTGACCCCGGG 0.597000 Ichthyosis 32 736 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296466 39296466 + Missense_Mutation SNP G G A rs35985080 by1000genomes TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:39296466G>A ENST00000345847.4 - 1 273 c.274C>T c.(274-276)Ccc>Tcc p.P92S NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 88 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 CAGCACTGGGGTCTGCAGCAG 0.657000 6 55 0 0 1 0 0 FLI1 2313 broad.mit.edu 37 11 128680406 128680406 + Silent SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr11:128680406C>T ENST00000344954.6 + 9 1171 c.783C>T c.(781-783)agC>agT p.S261S FLI1_ENST00000429175.2_Silent_p.S294S|FLI1_ENST00000534087.1_Silent_p.S261S|FLI1_ENST00000525560.1_Silent_p.S101S|FLI1_ENST00000281428.8_Silent_p.S228S Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 294 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TCTCCGACAGCGCCAACGCCA 0.627000 T EWSR1 Ewing sarcoma 4 13 0 0 1 0 0 EMD 2010 broad.mit.edu 37 X 153608673 153608673 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chrX:153608673G>T ENST00000369842.4 + 4 633 c.345G>T c.(343-345)agG>agT p.R115S EMD_ENST00000369835.3_Missense_Mutation_p.R80S|EMD_ENST00000492448.1_3'UTR NM_000117.2 NP_000108.1 P50402 EMD_HUMAN emerin 115 Interaction with F-actin (Probable). cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding lung(5) 5 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCCGTCCAGGGCTGTCCGCC 0.592000 14 59 1.62849e-17 2.29415e-17 1 1 0 OVCH1 341350 broad.mit.edu 37 12 29639253 29639253 + Silent SNP T T C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr12:29639253T>C ENST00000318184.5 - 8 920 c.921A>G c.(919-921)aaA>aaG p.K307K OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 307 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TTGAGCCCACTTTTGAGAGGG 0.403000 11 76 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84530461 84530461 + RNA SNP G G C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr9:84530461G>C ENST00000527857.1 + 0 483 NR_026851.1 GAAAGATGCTGTTCCCTTTGT 0.512000 7 37 0 0 1 0 0 CPN1 1369 broad.mit.edu 37 10 101835692 101835692 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr10:101835692G>T ENST00000370418.3 - 2 647 c.396C>A c.(394-396)gaC>gaA p.D132E NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 132 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CCTCGTAGCCGTCGGGGTTCA 0.572000 19 48 2.35188e-11 3.08784e-11 1 1 0 RYR2 6262 broad.mit.edu 37 1 237982468 237982468 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:237982468G>T ENST00000366574.2 + 101 14883 c.14566G>T c.(14566-14568)Gtc>Ttc p.V4856F RYR2_ENST00000542537.1_Missense_Mutation_p.V4840F|RYR2_ENST00000360064.6_Missense_Mutation_p.V4862F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4856 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 p.V4854I(1) 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) CTTTGTTATTGTCATTCTCTT 0.403000 22 92 3.62473e-10 4.66382e-10 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112638514 112638514 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr12:112638514G>T ENST00000550722.1 - 55 8452 c.8057C>A c.(8056-8058)cCc>cAc p.P2686H HECTD4_ENST00000430131.2_Missense_Mutation_p.P2410H|HECTD4_ENST00000377560.5_Missense_Mutation_p.P2660H NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCCTGCTGGGGGCCTTTCCAA 0.507000 5 50 0.000602214 0.000664156 1 1 0 ATAD5 79915 broad.mit.edu 37 17 29159372 29159372 + Missense_Mutation SNP G G C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:29159372G>C ENST00000321990.4 + 1 385 c.7G>C c.(7-9)Ggg>Cgg p.G3R NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 3 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GAGTATGGTGGGGGTCCTGGC 0.652000 15 68 0 0 1 0 0 FRZB 2487 broad.mit.edu 37 2 183730938 183730938 + Missense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:183730938C>A ENST00000295113.4 - 1 952 c.343G>T c.(343-345)Gcc>Tcc p.A115S NM_001463.3 NP_001454.2 Q92765 SFRP3_HUMAN frizzled-related protein 115 FZ. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.A115S(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) CCCTGCCGGGCCCGCTCGCAC 0.622000 5 42 0.0215528 0.0222443 1 1 0 CACHD1 57685 broad.mit.edu 37 1 65157012 65157012 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:65157012G>T ENST00000371073.2 + 27 3593 c.3593G>T c.(3592-3594)aGc>aTc p.S1198I CACHD1_ENST00000290039.5_Missense_Mutation_p.S1147I|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 1198 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CTAGGTTACAGCACCATGAGC 0.483000 19 66 2.94398e-08 3.68954e-08 1 1 0 NEB 4703 broad.mit.edu 37 2 152417530 152417530 + Silent SNP A A G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:152417530A>G ENST00000427231.2 - 123 19396 c.19194T>C c.(19192-19194)aaT>aaC p.N6398N NEB_ENST00000409198.1_Silent_p.N4697N|NEB_ENST00000172853.10_Silent_p.N4697N|NEB_ENST00000604864.1_Silent_p.N6398N|NEB_ENST00000603639.1_Silent_p.N6398N|NEB_ENST00000397345.3_Silent_p.N6398N NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 6395 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCTGTAAAGATTCTTCAGGT 0.373000 3 22 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516312 140516312 + Silent SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr5:140516312C>T ENST00000231134.5 + 1 1513 c.1296C>T c.(1294-1296)acC>acT p.T432T NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 432 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTGAAAACCGAGCACAACA 0.557000 34 105 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941075 13941075 + Silent SNP C C T rs112261548 byFrequency TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr19:13941075C>T ENST00000254323.2 + 13 2370 c.2181C>T c.(2179-2181)atC>atT p.I727I ZSWIM4_ENST00000440752.2_Silent_p.I561I NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 727 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CGGCTACCATCGTGGCAGTGA 0.627000 6 67 0 0 1 0 0 LARP6 55323 broad.mit.edu 37 15 71125456 71125456 + Splice_Site SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr15:71125456C>A ENST00000299213.8 - 3 482 c.e3-1 NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 GATGTTTCACCTGCAGAACAT 0.453000 5 62 0.00116845 0.00127407 1 1 0 PRRX1 5396 broad.mit.edu 37 1 170705269 170705269 + Missense_Mutation SNP T T A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:170705269T>A ENST00000239461.6 + 4 993 c.680T>A c.(679-681)cTg>cAg p.L227Q PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_3'UTR NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 227 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATTGCCAACCTGAGACTGAAG 0.453000 43 170 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225662578 225662578 + Missense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:225662578A>T ENST00000409592.3 - 42 4710 c.4597T>A c.(4597-4599)Ttt>Att p.F1533I DOCK10_ENST00000258390.7_Missense_Mutation_p.F1539I Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1539 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AAGGAGGCAAACACATGCTTC 0.408000 11 203 0 0 1 0 0 NDE1 54820 broad.mit.edu 37 16 15790651 15790651 + Missense_Mutation SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr16:15790651G>A ENST00000396355.1 + 9 1707 c.881G>A c.(880-882)aGc>aAc p.S294N NDE1_ENST00000342673.5_Missense_Mutation_p.S294N|NDE1_ENST00000396353.2_Missense_Mutation_p.S294N|NDE1_ENST00000396354.1_Missense_Mutation_p.S294N NM_001143979.1 NP_001137451.1 Q9NXR1 NDE1_HUMAN nudE neurodevelopment protein 1 294 cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 TCTGGGCGGAGCAGCAAGAAC 0.587000 8 56 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37035048 37035048 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr3:37035048G>T ENST00000231790.2 + 1 226 c.10G>T c.(10-12)Gtg>Ttg p.V4L NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 4 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 AATGTCGTTCGTGGCAGGGGT 0.552000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 23 47 9.95505e-16 1.36264e-15 1 1 0 OPN1MW2 728458 broad.mit.edu 37 X 153496075 153496075 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chrX:153496075G>T ENST00000369929.4 + 5 863 c.803G>T c.(802-804)cGc>cTc p.R268L OPN1MW2_ENST00000488220.1_3'UTR NM_001048181.2 NP_001041646.1 opsin 1 (cone pigments), medium-wave-sensitive 2 p.R268H(1) haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1) 6 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GAAGTGACGCGCATGGTGGTG 0.587000 35 57 6.5261e-18 9.32991e-18 1 1 0 CACNA1B 774 broad.mit.edu 37 9 140953545 140953545 + Silent SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr9:140953545C>A ENST00000277549.5 + 31 4645 c.2076C>A c.(2074-2076)ccC>ccA p.P692P CACNA1B_ENST00000371372.1_Silent_p.P1496P|CACNA1B_ENST00000371357.1_Silent_p.P1497P|CACNA1B_ENST00000371363.1_Silent_p.P1496P|CACNA1B_ENST00000371355.4_Silent_p.P1497P|CACNA1B_ENST00000277551.2_Silent_p.P1496P Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1496 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) ATGATGCACCCTATGAGTACG 0.542000 5 23 0.014758 0.0153134 1 1 0 PDCL2 132954 broad.mit.edu 37 4 56448363 56448363 + Silent SNP A A G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr4:56448363A>G ENST00000295645.4 - 2 150 c.48T>C c.(46-48)gaT>gaC p.D16D NM_152401.2 NP_689614.2 Q8N4E4 PDCL2_HUMAN phosducin-like 2 16 endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) GAATGCCGAAATCTCTTAAAA 0.333000 6 49 0 0 1 0 0 MGAT1 4245 broad.mit.edu 37 5 180219587 180219587 + Missense_Mutation SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr5:180219587G>A ENST00000446023.2 - 3 1135 c.385C>T c.(385-387)Cgg>Tgg p.R129W MGAT1_ENST00000307826.4_Missense_Mutation_p.R129W|MGAT1_ENST00000427865.2_Missense_Mutation_p.R129W|MGAT1_ENST00000333055.3_Missense_Mutation_p.R129W|MGAT1_ENST00000393340.3_Missense_Mutation_p.R129W NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 129 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGAGGGCCGATAATGCAGC 0.667000 7 44 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134622002 134622002 + Missense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr10:134622002C>T ENST00000368586.5 - 58 8171 c.8071G>A c.(8071-8073)Ggc>Agc p.G2691S TTC40_ENST00000263170.5_Missense_Mutation_p.G852S NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 852 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 AAGGGGAGGCCGCCCTTGTCC 0.602000 14 126 0 0 1 0 0 MINPP1 9562 broad.mit.edu 37 10 89311973 89311973 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr10:89311973G>T ENST00000371996.4 + 5 1243 c.1202G>T c.(1201-1203)cGg>cTg p.R401L MINPP1_ENST00000536010.1_Missense_Mutation_p.R200L|MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 401 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) CAAATGCATCGGAAGTTCCGA 0.423000 35 110 2.42023e-17 3.38482e-17 1 1 0 CNTN5 53942 broad.mit.edu 37 11 99715952 99715952 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr11:99715952G>T ENST00000524871.1 + 6 825 c.535G>T c.(535-537)Gtg>Ttg p.V179L CNTN5_ENST00000528682.1_Missense_Mutation_p.V179L|CNTN5_ENST00000527185.1_Missense_Mutation_p.V179L|CNTN5_ENST00000279463.3_Missense_Mutation_p.V179L|CNTN5_ENST00000418526.2_Missense_Mutation_p.V105L NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 179 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AACCAACACTGTGGGGAGTAT 0.353000 54 94 7.10663e-31 1.07155e-30 1 1 0 TCHH 7062 broad.mit.edu 37 1 152080458 152080458 + Silent SNP G G A rs71585886 TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:152080458G>A ENST00000368804.1 - 2 5234 c.5235C>T c.(5233-5235)cgC>cgT p.R1745R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1745 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTTTCTGTAGCGTTCTTGGC 0.587000 9 112 0 0 1 0 0 TSPAN8 7103 broad.mit.edu 37 12 71526483 71526483 + Missense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr12:71526483A>T ENST00000393330.2 - 10 1118 c.566T>A c.(565-567)gTt>gAt p.V189D TSPAN8_ENST00000552128.1_Missense_Mutation_p.V106D|TSPAN8_ENST00000546561.1_Missense_Mutation_p.V189D|TSPAN8_ENST00000247829.3_Missense_Mutation_p.V189D P19075 TSN8_HUMAN tetraspanin 8 189 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) CTCTTTGTAAACTTGTTTTCC 0.343000 14 99 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228464187 228464187 + Missense_Mutation SNP T T G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:228464187T>G ENST00000570156.2 + 26 7456 c.7382T>G c.(7381-7383)gTg>gGg p.V2461G OBSCN_ENST00000284548.11_Missense_Mutation_p.V2086G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.V2086G|OBSCN_ENST00000359599.6_Missense_Mutation_p.V933G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1452 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGCAGGCAGTGGAGGCACGG 0.677000 11 68 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165948804 165948804 + Missense_Mutation SNP C C G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:165948804C>G ENST00000360093.3 - 27 5258 c.4767G>C c.(4765-4767)tgG>tgC p.W1589C SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000409101.3_Missense_Mutation_p.W1540C|SCN3A_ENST00000283254.7_Missense_Mutation_p.W1589C|SCN3A_ENST00000540861.1_Missense_Mutation_p.W72C NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1589 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CAAAGATGTTCCAGCCTATAG 0.433000 42 48 0 0 1 0 0 TCAP 8557 broad.mit.edu 37 17 37822127 37822127 + Missense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:37822127C>T ENST00000309889.2 + 2 1442 c.269C>T c.(268-270)cCg>cTg p.P90L TCAP_ENST00000578283.1_Missense_Mutation_p.P66L O15273 TELT_HUMAN titin-cap 90 P -> L (in CMD1N). adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly cytosol|Z disc structural constituent of muscle|titin binding|titin Z domain binding kidney(1)|lung(1) 2 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CGGGTACTGCCGCTGCCCATC 0.672000 6 17 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177138030 177138030 + Silent SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr4:177138030C>T ENST00000296525.3 - 6 914 c.801G>A c.(799-801)ctG>ctA p.L267L ASB5_ENST00000512254.1_Silent_p.L214L NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 267 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) CTATAGGTCGCAGAAGCTCTG 0.368000 12 110 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33963911 33963911 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr5:33963911G>T ENST00000382102.3 - 3 830 c.773C>A c.(772-774)cCt>cAt p.P258H SLC45A2_ENST00000296589.4_Missense_Mutation_p.P258H|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000342059.3_Missense_Mutation_p.P199H NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 258 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 TGACAATGGAGGGTCCTGAGG 0.453000 24 135 2.89027e-11 3.74377e-11 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13823396 13823396 + Silent SNP T T C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr5:13823396T>C ENST00000265104.4 - 40 6767 c.6663A>G c.(6661-6663)gaA>gaG p.E2221E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2221 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGCTTCCAGTTCAGGGTAAC 0.408000 Kartagener syndrome 20 136 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285017 152285017 + Missense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:152285017C>A ENST00000368799.1 - 3 2380 c.2345G>T c.(2344-2346)cGg>cTg p.R782L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 782 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R782Q(2) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCCCTGACCGGTCACGTGC 0.567000 Ichthyosis 72 600 7.33394e-39 1.14149e-38 1 1 0 SACS 26278 broad.mit.edu 37 13 23905025 23905025 + Missense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr13:23905025C>A ENST00000382298.3 - 10 13578 c.12990G>T c.(12988-12990)agG>agT p.R4330S SACS_ENST00000402364.1_Missense_Mutation_p.R3580S|SACS_ENST00000382292.3_Missense_Mutation_p.R4330S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4330 J. cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AATACAACCGCCTAATAATCT 0.358000 31 176 6.02846e-25 9.01932e-25 1 1 0 DEPDC1 55635 broad.mit.edu 37 1 68948349 68948349 + Missense_Mutation SNP T T A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:68948349T>A ENST00000456315.2 - 8 1256 c.1142A>T c.(1141-1143)cAg>cTg p.Q381L DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 381 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) ATTAACTAGCTGCATTTTCTT 0.338000 22 61 0 0 1 0 0 CD70 970 broad.mit.edu 37 19 6591001 6591001 + Missense_Mutation SNP C C G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr19:6591001C>G ENST00000245903.3 - 1 162 c.13G>C c.(13-15)Ggt>Cgt p.G5R CD70_ENST00000423145.3_Missense_Mutation_p.G5R NM_001252.3 NP_001243.1 P32970 CD70_HUMAN CD70 molecule 5 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1) 11 CAGCCCGAACCCTCCTCCGGC 0.692000 4 44 0 0 1 0 0 FSD1 79187 broad.mit.edu 37 19 4310486 4310486 + Missense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr19:4310486C>A ENST00000221856.6 + 6 530 c.383C>A c.(382-384)cCt>cAt p.P128H FSD1_ENST00000597590.1_Missense_Mutation_p.P128H|FSD1_ENST00000598010.1_3'UTR NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 128 COS. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) ACCATGGCCCCTGCCTTCCGG 0.632000 31 75 2.85442e-18 4.11121e-18 1 1 0 UBR3 130507 broad.mit.edu 37 2 170885859 170885859 + Missense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:170885859A>T ENST00000272793.5 + 31 4507 c.4457A>T c.(4456-4458)cAg>cTg p.Q1486L UBR3_ENST00000465630.1_3'UTR|UBR3_ENST00000418381.1_Missense_Mutation_p.Q1486L|UBR3_ENST00000392631.1_Missense_Mutation_p.Q307L Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1486 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TTTTCAGATCAGCTGTTTCAT 0.348000 20 33 0 0 1 0 0 RRH 10692 broad.mit.edu 37 4 110758732 110758732 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr4:110758732G>T ENST00000317735.4 + 5 725 c.691G>T c.(691-693)Gac>Tac p.D231Y NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 231 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) CCTCAACAGAGACTGGTCAGA 0.403000 8 34 0.0381472 0.0389546 1 1 0 THSD1 55901 broad.mit.edu 37 13 52952174 52952174 + Missense_Mutation SNP T T C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr13:52952174T>C ENST00000349258.4 - 4 2316 c.1772A>G c.(1771-1773)cAt>cGt p.H591R THSD1_ENST00000258613.4_Missense_Mutation_p.H644R|THSD1_ENST00000544466.1_Missense_Mutation_p.H265R NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 644 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) GTTCCTGGCATGGCTCCTTTC 0.627000 6 66 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103306336 103306336 + Missense_Mutation SNP T T A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:103306336T>A ENST00000520539.1 - 33 4802 c.4196A>T c.(4195-4197)gAt>gTt p.D1399V UBR5_ENST00000220959.4_Missense_Mutation_p.D1399V|UBR5_ENST00000521922.1_Missense_Mutation_p.D1393V NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1399 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TAGTAGAGTATCTAAAAGCTT 0.299000 10 58 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629605 1629605 + Missense_Mutation SNP G G C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr11:1629605G>C ENST00000399685.1 - 1 88 c.11C>G c.(10-12)tCt>tGt p.S4C NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 4 S -> C (in Ref. 3; AAT09005). keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) AGAGCAGCCAGAGCAGCCCAT 0.642000 70 149 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175052929 175052929 + Missense_Mutation SNP G G C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:175052929G>C ENST00000239462.4 + 5 1205 c.1092G>C c.(1090-1092)gaG>gaC p.E364D NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 364 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.E364D(1) 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) ATGAGACTGAGAACTCCCTTG 0.557000 10 55 0 0 1 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32975906 32975906 + Missense_Mutation SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr6:32975906G>A ENST00000229829.5 - 2 290 c.215C>T c.(214-216)cCt>cTt p.P72L HLA-DOA_ENST00000450833.2_Missense_Mutation_p.P42L NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 72 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 ACCAAACTCAGGCAGACGCCA 0.602000 7 38 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13735953 13735953 + Silent SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr5:13735953C>A ENST00000265104.4 - 67 11648 c.11544G>T c.(11542-11544)ctG>ctT p.L3848L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3848 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAAATAAGCCCAGAAACTGGC 0.448000 Kartagener syndrome 17 120 3.52763e-06 4.20267e-06 1 1 0 DNAH2 146754 broad.mit.edu 37 17 7663255 7663255 + Splice_Site SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:7663255G>A ENST00000572933.1 + 17 4244 c.2785_splice c.e17+1 p.V928_splice DNAH2_ENST00000389173.2_Splice_Site_p.V928_splice Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 928 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AAACAGTTGTGGGTGAGTGGG 0.562000 36 217 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6942931 6942931 + Silent SNP T T G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr11:6942931T>G ENST00000317834.3 + 1 727 c.699T>G c.(697-699)tcT>tcG p.S233S NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTCTTGGTTCTTATTGGAATA 0.478000 4 47 0 0 1 0 0 EMC3 55831 broad.mit.edu 37 3 10050266 10050266 + RNA SNP T T A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr3:10050266T>A ENST00000383808.2 - 0 512 TAGtggggggtgggttcagct 0.587000 9 16 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230371806 230371806 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:230371806G>T ENST00000366672.4 + 4 493 c.421G>T c.(421-423)Gtg>Ttg p.V141L GALNT2_ENST00000541865.1_Missense_Mutation_p.V51L|GALNT2_ENST00000543760.1_Missense_Mutation_p.V103L NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 141 Catalytic subdomain A. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CACCAGCGTGGTGATCACGTT 0.577000 8 29 5.18039e-06 6.09644e-06 1 1 0 ENTPD6 955 broad.mit.edu 37 20 25205927 25205927 + Missense_Mutation SNP G G T rs140620202 TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr20:25205927G>T ENST00000360031.2 + 14 1509 c.1327G>T c.(1327-1329)Ggc>Tgc p.G443C ENTPD6_ENST00000376652.4_Missense_Mutation_p.G444C|ENTPD6_ENST00000354989.5_Missense_Mutation_p.G427C|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.R424L NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 444 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 CCAGGAGTTCGGCTTTCCCAG 0.597000 5 23 0.014758 0.0153134 1 1 0 JADE2 23338 broad.mit.edu 37 5 133895545 133895545 + Missense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr5:133895545C>T ENST00000395003.1 + 5 516 c.337C>T c.(337-339)Cct>Tct p.P113S PHF15_ENST00000282605.4_Missense_Mutation_p.P113S|PHF15_ENST00000361895.2_Missense_Mutation_p.P113S|PHF15_ENST00000402835.1_Missense_Mutation_p.P113S NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 113 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGAAGGCCCCCCTGCCCAGGC 0.627000 12 32 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69652539 69652539 + Silent SNP A A G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr12:69652539A>G ENST00000435070.2 + 6 974 c.864A>G c.(862-864)ccA>ccG p.P288P CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Silent_p.P215P|CPSF6_ENST00000266679.8_Silent_p.P325P NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 288 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) GGCAGCCTCCATTGGGTCCAC 0.627000 16 130 0 0 1 0 0 PFKFB3 5209 broad.mit.edu 37 10 6262820 6262820 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr10:6262820G>T ENST00000379775.4 + 8 1153 c.823G>T c.(823-825)Ggc>Tgc p.G275C PFKFB3_ENST00000379789.4_Missense_Mutation_p.G255C|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_Missense_Mutation_p.G275C|PFKFB3_ENST00000540253.1_Missense_Mutation_p.G289C|PFKFB3_ENST00000379782.3_Missense_Mutation_p.G275C|PFKFB3_ENST00000317350.4_Missense_Mutation_p.G275C|PFKFB3_ENST00000360521.2_Missense_Mutation_p.G275C NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 275 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 GTCCAGCCGGGGCAAGAAGGT 0.677000 19 61 1.55795e-14 2.08808e-14 1 1 0 RYR3 6263 broad.mit.edu 37 15 33954955 33954955 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr15:33954955G>T ENST00000389232.4 + 35 5294 c.5224G>T c.(5224-5226)Gat>Tat p.D1742Y RYR3_ENST00000415757.3_Missense_Mutation_p.D1742Y NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1742 4 X approximate repeats. 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) TGATGATGATGATGTTCGGCA 0.552000 8 48 0.000157383 0.000177631 1 1 0 NAV2 89797 broad.mit.edu 37 11 19735320 19735320 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr11:19735320G>T ENST00000396085.1 + 1 440 c.79G>T c.(79-81)Gtg>Ttg p.V27L NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.V27L|NAV2_ENST00000349880.4_Missense_Mutation_p.V27L NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 27 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CATCCTGCACGTgcccccggc 0.652000 3 19 0.115264 0.117084 1 1 0 KCTD3 51133 broad.mit.edu 37 1 215752375 215752375 + Nonsense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:215752375A>T ENST00000259154.4 + 7 724 c.430A>T c.(430-432)Aga>Tga p.R144* NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 144 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) CAACACAGTCAGATCTGCTGA 0.373000 5 40 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963524 88963524 + Silent SNP A A C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr7:88963524A>C ENST00000333190.4 + 4 1837 c.1228A>C c.(1228-1230)Aga>Cga p.R410R NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 410 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AATAGAGAACAGAGAAAAATC 0.368000 HNSCC(36;0.09) 18 46 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282954 152282954 + Missense_Mutation SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:152282954G>A ENST00000368799.1 - 3 4443 c.4408C>T c.(4408-4410)Cat>Tat p.H1470Y FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1470 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.H1470N(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTGCTCATGGCGGGATCCT 0.572000 Ichthyosis 89 416 0 0 1 0 0 TRAJ23 28732 broad.mit.edu 37 14 22989454 22989454 + RNA SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr14:22989454C>A ENST00000390514.1 + 0 61 TCTGTGAAACCCAGTAAGTAT 0.403000 33 49 3.90053e-15 5.30142e-15 1 1 0 LBP 3929 broad.mit.edu 37 20 36979231 36979231 + Missense_Mutation SNP G G C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr20:36979231G>C ENST00000217407.2 + 3 418 c.257G>C c.(256-258)tGt>tCt p.C86S NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 86 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) ATCCACAGCTGTGAGCTGCTT 0.647000 5 56 0 0 1 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11254970 11254970 + Missense_Mutation SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:11254970G>A ENST00000376819.3 + 5 1170 c.931G>A c.(931-933)Ggt>Agt p.G311S ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 311 Fibrinogen C-terminal. response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) CTACCGCCTGGGTGAGCACAA 0.522000 14 39 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12666767 12666767 + Missense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:12666767A>T ENST00000425538.1 + 14 2967 c.2767A>T c.(2767-2769)Agc>Tgc p.S923C MYOCD_ENST00000343344.4_Missense_Mutation_p.S875C|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 875 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TTCTGTGGACAGCAATGGGCT 0.537000 10 47 0 0 1 0 0 STMN2 11075 broad.mit.edu 37 8 80553737 80553737 + Silent SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:80553737C>A ENST00000220876.7 + 3 622 c.240C>A c.(238-240)tcC>tcA p.S80S STMN2_ENST00000518491.1_Silent_p.S69S|STMN2_ENST00000518111.1_Silent_p.S80S NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 80 Regulatory/phosphorylation domain (Potential). intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) AAGACCTGTCCCTGGAGGAGA 0.502000 21 54 3.8784e-16 5.34666e-16 1 1 0 CHRNB3 1142 broad.mit.edu 37 8 42563858 42563858 + Splice_Site SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:42563858A>T ENST00000289957.2 + 2 180 c.e2-1 RP11-412B14.1_ENST00000527318.1_RNA|CHRNB3_ENST00000531610.1_Splice_Site NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) ATTCTTTTACAGCCACCACAG 0.517000 28 95 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87489353 87489353 + Nonsense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr10:87489353C>A ENST00000327946.7 - 9 1337 c.1252G>T c.(1252-1254)Gag>Tag p.E418* GRID1_ENST00000536331.1_5'UTR NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 418 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) AAGCCCTTCTCTGAGTCCCAT 0.537000 Multiple Myeloma(13;0.14) 19 44 6.33239e-15 8.54651e-15 1 1 0 PEAK1 79834 broad.mit.edu 37 15 77473170 77473170 + Missense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr15:77473170C>A ENST00000560626.2 - 4 1574 c.1099G>T c.(1099-1101)Ggg>Tgg p.G367W PEAK1_ENST00000312493.4_Missense_Mutation_p.G367W|PEAK1_ENST00000558305.1_Missense_Mutation_p.G367W Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 367 Ser-rich. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GATAATCCCCCATTACAAATC 0.408000 10 76 2.17888e-05 2.4883e-05 1 1 0 MIR758 768212 broad.mit.edu 37 14 101492380 101492380 + RNA SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr14:101492380C>A ENST00000390227.1 + 0 24 NR_030406.1 AGATGGTTGACCAGAGAGCAC 0.527000 17 101 2.23348e-06 2.67741e-06 1 1 0 ARHGEF40 55701 broad.mit.edu 37 14 21542977 21542977 + Missense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr14:21542977A>T ENST00000298694.4 + 3 1215 c.1088A>T c.(1087-1089)cAg>cTg p.Q363L ARHGEF40_ENST00000298693.3_Missense_Mutation_p.Q363L Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 363 Gly-rich. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GGAGGAGGCCAGGGGGCTGAA 0.632000 5 37 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61769402 61769402 + Silent SNP A A G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:61769402A>G ENST00000423902.2 + 34 8042 c.7563A>G c.(7561-7563)ggA>ggG p.G2521G CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2521 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ATGTGGAGGGACTTGATCTGC 0.552000 35 86 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7335118 7335118 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr11:7335118G>T ENST00000318881.6 + 3 1227 c.990G>T c.(988-990)ttG>ttT p.L330F SYT9_ENST00000396716.2_Missense_Mutation_p.L298F NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 330 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TCCTAGACTTGGCTGATTTCC 0.478000 52 133 9.52127e-25 1.41354e-24 1 1 0 NSUN6 221078 broad.mit.edu 37 10 18874951 18874951 + Silent SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr10:18874951C>A ENST00000377304.4 - 8 1267 c.849G>T c.(847-849)ggG>ggT p.G283G NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 283 methyltransferase activity|RNA binding endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 TGGAATTCAGCCCTAACAATA 0.353000 9 72 2.17888e-05 2.4883e-05 1 1 0 REG3G 130120 broad.mit.edu 37 2 79253886 79253886 + Nonsense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:79253886A>T ENST00000272324.5 + 3 308 c.124A>T c.(124-126)Aaa>Taa p.K42* REG3G_ENST00000409471.1_Nonsense_Mutation_p.K42*|REG3G_ENST00000393897.2_Nonsense_Mutation_p.K42* NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 42 acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CAGCTGTCCCAAAGGCTCCAA 0.532000 40 45 0 0 1 0 0 CKAP2L 150468 broad.mit.edu 37 2 113500348 113500348 + Splice_Site SNP T T A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:113500348T>A ENST00000541405.1 - 7 1787 c.e7-2 NT5DC4_ENST00000327581.4_3'UTR|CKAP2L_ENST00000302450.6_Splice_Site Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TTGTATTGGCTGGAAGGAAGG 0.294000 21 36 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70905944 70905944 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr16:70905944G>T ENST00000393567.2 - 65 11237 c.11087C>A c.(11086-11088)cCa>cAa p.P3696Q NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3696 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATTTACCTGTGGGGAGAAAGC 0.438000 13 71 4.7546e-09 6.0371e-09 1 1 0 NLRP7 199713 broad.mit.edu 37 19 55452989 55452989 + Missense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr19:55452989C>A ENST00000446217.1 - 4 577 c.175G>T c.(175-177)Gct>Tct p.A59S NLRP7_ENST00000340844.2_Missense_Mutation_p.A31S|NLRP7_ENST00000590030.1_Missense_Mutation_p.A31S|NLRP7_ENST00000588756.1_Missense_Mutation_p.A31S|NLRP7_ENST00000448121.2_Missense_Mutation_p.A31S|NLRP7_ENST00000328092.5_Missense_Mutation_p.A31S|NLRP7_ENST00000592784.1_Missense_Mutation_p.A31S Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 31 DAPIN. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AGGGGAAAAGCCCATAAAAGG 0.507000 11 62 7.03913e-09 8.87942e-09 1 1 0 RNF10 9921 broad.mit.edu 37 12 120995377 120995377 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr12:120995377G>T ENST00000325954.4 + 6 1320 c.859G>T c.(859-861)Gtt>Ttt p.V287F RNF10_ENST00000413266.2_Missense_Mutation_p.V287F NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 287 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACATCAGTATGTTGTTGGTGA 0.448000 23 191 1.55469e-16 2.15868e-16 1 1 0 SLC44A4 80736 broad.mit.edu 37 6 31837024 31837024 + Missense_Mutation SNP T T C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr6:31837024T>C ENST00000544672.1 - 13 1209 c.913A>G c.(913-915)Aca>Gca p.T305A SLC44A4_ENST00000229729.6_Missense_Mutation_p.T381A|SLC44A4_ENST00000375562.4_Missense_Mutation_p.T339A NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 381 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) TGCCCCGATGTAGCCAGGTAC 0.552000 9 30 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2025196 2025196 + Missense_Mutation SNP G G A rs147036287 TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr16:2025196G>A ENST00000568546.1 + 8 772 c.644G>A c.(643-645)cGt>cAt p.R215H NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 215 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 AGCTCCGGCCGTGACAAGATA 0.607000 9 134 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 19 5.18039e-06 6.09644e-06 1 1 0 C2orf78 388960 broad.mit.edu 37 2 74043390 74043390 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr2:74043390G>T ENST00000409561.1 + 3 2161 c.2040G>T c.(2038-2040)gaG>gaT p.E680D NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 680 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TCCAACATGAGGGTAAAGGCC 0.507000 21 48 1.15919e-05 1.33966e-05 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766941 77766941 + Missense_Mutation SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:77766941G>A ENST00000521891.2 + 10 8232 c.7784G>A c.(7783-7785)gGa>gAa p.G2595E ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2569E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2550E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2550E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2550 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAAAAGAAGGAGGGAATAGC 0.468000 HNSCC(33;0.089) 17 39 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72942915 72942915 + Missense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:72942915A>T ENST00000328801.4 + 6 965 c.965A>T c.(964-966)cAc>cTc p.H322L NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 322 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) GTGGCACCCCACATGGGTGCC 0.637000 28 161 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764983 77764983 + Silent SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:77764983C>T ENST00000521891.2 + 10 6274 c.5826C>T c.(5824-5826)aaC>aaT p.N1942N ZFHX4_ENST00000518282.1_Silent_p.N1916N|ZFHX4_ENST00000050961.6_Silent_p.N1897N|ZFHX4_ENST00000455469.2_Silent_p.N1897N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1897 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAGGCGAAAACACTGACAAAC 0.373000 HNSCC(33;0.089) 16 78 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139165567 139165567 + Missense_Mutation SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr6:139165567G>A ENST00000423192.1 + 6 775 c.614G>A c.(613-615)cGa>cAa p.R205Q ECT2L_ENST00000367682.2_Missense_Mutation_p.R205Q|ECT2L_ENST00000541398.1_Missense_Mutation_p.R136Q Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 205 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TTCAAAGTTCGACCCCCTTGG 0.493000 """N, Splice, Mis""" ETP ALL 10 57 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767912 77767912 + Missense_Mutation SNP T T A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:77767912T>A ENST00000521891.2 + 10 9203 c.8755T>A c.(8755-8757)Ttt>Att p.F2919I ZFHX4_ENST00000518282.1_Missense_Mutation_p.F2893I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F2874I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.F2874I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2874 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGCAATCCCTTTAAATCCAA 0.502000 HNSCC(33;0.089) 23 54 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100512481 100512481 + Silent SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr4:100512481G>T ENST00000457717.1 + 6 847 c.591G>T c.(589-591)gcG>gcT p.A197A MTTP_ENST00000265517.5_Silent_p.A197A|MTTP_ENST00000511045.1_Silent_p.A224A NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 197 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GCAAAATAGCGAGGTCTGGAT 0.338000 9 73 0.000274275 0.000305983 1 1 0 DDX47 51202 broad.mit.edu 37 12 12976218 12976218 + Nonsense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr12:12976218C>T ENST00000358007.3 + 7 737 c.715C>T c.(715-717)Cag>Tag p.Q239* RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Nonsense_Mutation_p.Q239* NM_016355.3 NP_057439.2 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 239 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) TGAAAAATTACAGCAATATTA 0.368000 5 82 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55405996 55405996 + Missense_Mutation SNP C C A rs149082190 byFrequency TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr11:55405996C>A ENST00000314612.2 + 1 163 c.163C>A c.(163-165)Caa>Aaa p.Q55K NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q55*(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 GCTCATTCACCAACCCATGTA 0.403000 64 138 5.80444e-35 8.96205e-35 1 1 0 CHD5 26038 broad.mit.edu 37 1 6194862 6194862 + Silent SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:6194862G>T ENST00000262450.3 - 19 3027 c.2928C>A c.(2926-2928)ggC>ggA p.G976G CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 976 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding p.G976G(1) breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTTGGTTCCCGCCCCCCTTGG 0.582000 52 137 5.12918e-33 7.79473e-33 1 1 0 TSNARE1 203062 broad.mit.edu 37 8 143381910 143381910 + Silent SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:143381910C>T ENST00000519651.1 - 8 673 c.570G>A c.(568-570)ccG>ccA p.P190P TSNARE1_ENST00000524325.1_Silent_p.P408P|TSNARE1_ENST00000307180.3_Silent_p.P409P|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Silent_p.P409P Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 409 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGTGATGTCCGGGAGCAGCG 0.632000 7 80 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20329558 20329558 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr16:20329558G>T ENST00000302555.5 - 7 1351 c.1202C>A c.(1201-1203)aCc>aAc p.T401N GP2_ENST00000341642.5_Missense_Mutation_p.T254N|GP2_ENST00000381360.5_Missense_Mutation_p.T257N|GP2_ENST00000381362.4_Missense_Mutation_p.T404N P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 404 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TTCAGTGGGGGTGGCATAGCA 0.478000 43 109 1.62957e-23 2.40082e-23 1 1 0 SLC2A4 6517 broad.mit.edu 37 17 7187978 7187978 + Missense_Mutation SNP C C G TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:7187978C>G ENST00000317370.8 + 7 1170 c.902C>G c.(901-903)tCt>tGt p.S301C SLC2A4_ENST00000571308.1_Missense_Mutation_p.S301C|SLC2A4_ENST00000424875.2_Missense_Mutation_p.S291C NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 301 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 CAGCAGCTCTCTGGCATCAAT 0.662000 6 60 0 0 1 0 0 ALDH3A2 224 broad.mit.edu 37 17 19555090 19555090 + Splice_Site SNP A A G rs140100036 TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:19555090A>G ENST00000176643.6 + 2 830 c.385_splice c.e2+1 p.A128_splice ALDH3A2_ENST00000339618.4_Splice_Site_p.A128_splice|ALDH3A2_ENST00000395575.2_Splice_Site_p.A128_splice|ALDH3A2_ENST00000579855.1_Splice_Site_p.A128_splice|ALDH3A2_ENST00000581518.1_Splice_Site_p.A128_splice P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 128 cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) CCATCGCTGCAGGTCTGGTGC 0.428000 11 116 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767911 77767911 + Silent SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:77767911C>A ENST00000521891.2 + 10 9202 c.8754C>A c.(8752-8754)ccC>ccA p.P2918P ZFHX4_ENST00000518282.1_Silent_p.P2892P|ZFHX4_ENST00000050961.6_Silent_p.P2873P|ZFHX4_ENST00000455469.2_Silent_p.P2873P NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2873 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCAGCAATCCCTTTAAATCCA 0.502000 HNSCC(33;0.089) 21 53 0.000175454 0.000196876 1 1 0 SIRPA 140885 broad.mit.edu 37 20 1902216 1902216 + Missense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr20:1902216C>A ENST00000358771.4 + 3 764 c.612C>A c.(610-612)agC>agA p.S204R SIRPA_ENST00000356025.3_Missense_Mutation_p.S204R|SIRPA_ENST00000400068.3_Missense_Mutation_p.S204R NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 204 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) TAGGAGAGAGCGTGTCCTACA 0.577000 29 111 1.50538e-07 1.83885e-07 1 1 0 COL25A1 84570 broad.mit.edu 37 4 109861739 109861739 + Missense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr4:109861739C>A ENST00000399132.1 - 10 1158 c.628G>T c.(628-630)Ggg>Tgg p.G210W COL25A1_ENST00000399126.1_Missense_Mutation_p.G210W|COL25A1_ENST00000399127.1_Missense_Mutation_p.G206W NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 210 Collagen-like 2. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCTGTGTCCCCAGGTGGCCCT 0.577000 18 72 1.33834e-09 1.71059e-09 1 1 0 PNN 5411 broad.mit.edu 37 14 39645282 39645282 + Splice_Site SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr14:39645282G>A ENST00000216832.4 + 2 181 c.113_splice c.e2-1 p.R38_splice PNN_ENST00000553331.1_Splice_Site_p.R38_splice|PNN_ENST00000556530.1_Splice_Site_p.R38_splice NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 38 Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) TCTTTTACAGGCCCATCCAAG 0.423000 72 40 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42166137 42166137 + Missense_Mutation SNP T T C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr15:42166137T>C ENST00000320955.6 - 25 5023 c.4796A>G c.(4795-4797)gAg>gGg p.E1599G NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1599 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTGGCACTGCTCCACGATGTG 0.642000 6 41 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10755661 10755661 + Missense_Mutation SNP C C T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:10755661C>T ENST00000416569.2 - 3 1753 c.1727G>A c.(1726-1728)cGt>cAt p.R576H XKR6_ENST00000304437.2_Missense_Mutation_p.R297H NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 576 integral to membrane p.R576H(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GAGGTAAGGACGCCCCAACGG 0.557000 5 68 0 0 1 0 0 TBCE 6905 broad.mit.edu 37 1 235599077 235599077 + Missense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:235599077A>T ENST00000543662.1 + 10 1014 c.908A>T c.(907-909)cAg>cTg p.Q303L TBCE_ENST00000366601.3_Missense_Mutation_p.Q252L|TBCE_ENST00000406207.1_Missense_Mutation_p.Q252L|TBCE_ENST00000472011.1_3'UTR Q15813 TBCE_HUMAN tubulin folding cofactor E 252 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) GATGTTCTCCAGACAGTCAAG 0.368000 49 174 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3248362 3248362 + Missense_Mutation SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chrX:3248362G>A ENST00000217939.6 - 4 560 c.406C>T c.(406-408)Cac>Tac p.H136Y NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 136 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ATCTTGTTGTGGTCAATGTGC 0.498000 9 27 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82816020 82816020 + Missense_Mutation SNP C C A rs143729093 byFrequency TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr5:82816020C>A ENST00000265077.3 + 7 2460 c.1895C>A c.(1894-1896)aCg>aAg p.T632K VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.T632K|VCAN_ENST00000512590.2_Missense_Mutation_p.T584K|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 632 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GGTAGGATAACGGAAGAGTTT 0.378000 43 179 1.15505e-17 1.63915e-17 1 1 0 LUZP2 338645 broad.mit.edu 37 11 24998151 24998151 + Silent SNP T T A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr11:24998151T>A ENST00000533227.1 + 8 566 c.279T>A c.(277-279)acT>acA p.T93T LUZP2_ENST00000336930.6_Silent_p.T179T NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 179 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 AGCAGCTTACTGATCTGGAAC 0.363000 18 35 0 0 1 0 0 CHKB 1120 broad.mit.edu 37 22 51019954 51019954 + Missense_Mutation SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr22:51019954C>A ENST00000406938.2 - 4 693 c.476G>T c.(475-477)cGa>cTa p.R159L CHKB_ENST00000463053.1_5'UTR NM_005198.4 NP_005189.2 Q9Y259 CHKB_HUMAN choline kinase beta 159 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1) 15 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) CACTGGCTCTCGAAGCTCTTG 0.577000 4 45 0.00909568 0.00959271 1 1 0 AOC1 26 broad.mit.edu 37 7 150558107 150558107 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr7:150558107G>T ENST00000493429.1 + 7 2650 c.2066G>T c.(2065-2067)gGg>gTg p.G689V AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.G689V|AOC1_ENST00000416793.2_Missense_Mutation_p.G708V|AOC1_ENST00000467291.1_Missense_Mutation_p.G689V amine oxidase, copper containing 1 GCCACACCTGGGAACTCCGTG 0.627000 22 44 1.87028e-06 2.25603e-06 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885201 88885201 + Silent SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:88885201G>T ENST00000319675.3 - 1 1095 c.999C>A c.(997-999)ggC>ggA p.G333G NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 333 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AGCAGTCCTGGCCCACGGCCG 0.572000 38 88 6.70999e-13 8.93122e-13 1 1 0 LRRC3B 116135 broad.mit.edu 37 3 26751686 26751686 + Missense_Mutation SNP T T A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr3:26751686T>A ENST00000396641.2 + 2 1115 c.523T>A c.(523-525)Tcc>Acc p.S175T LRRC3B_ENST00000417744.1_Missense_Mutation_p.S175T|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S175T NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 175 LRRCT. integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 CTGTAAAACGTCCGTGTTGGA 0.498000 12 26 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900904 51900904 + Silent SNP C C A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:51900904C>A ENST00000268919.4 + 1 666 c.510C>A c.(508-510)atC>atA p.I170I NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 170 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGCAGGAGATCCGAGCTAGAC 0.537000 10 89 3.86212e-05 4.38464e-05 1 1 0 GAA 2548 broad.mit.edu 37 17 78079567 78079567 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:78079567G>T ENST00000302262.3 + 3 785 c.566G>T c.(565-567)aGg>aTg p.R189M GAA_ENST00000390015.3_Missense_Mutation_p.R189M NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 189 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CCAGCTAACAGGCGCTACGAG 0.587000 5 57 1.12685e-05 1.31013e-05 1 1 0 MYH2 4620 broad.mit.edu 37 17 10439905 10439905 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr17:10439905G>T ENST00000245503.5 - 17 2300 c.1916C>A c.(1915-1917)gCc>gAc p.A639D MYH2_ENST00000532183.1_Missense_Mutation_p.A639D|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A639D|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 639 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACCTTTCTTGGCCCCTCCACC 0.428000 5 40 0.248553 0.251155 1 1 0 RASAL2 9462 broad.mit.edu 37 1 178411986 178411986 + Frame_Shift_Del DEL C C - TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr1:178411986delC ENST00000448150.3 + 8 1868 c.1050delC c.(1048-1050)agfs p.S350fs RASAL2_ENST00000462775.1_Frame_Shift_Del_p.S220fs|RASAL2_ENST00000367649.3_Frame_Shift_Del_p.S368fs NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 220 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 AATTCTTCAGCCTTCCACCTC 0.398 36 144 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32521545 32521546 + RNA INS - - AAGG rs144810212 by1000genomes TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr6:32521545_32521546insAAGG ENST00000411500.1 - 0 851 NR_001298.1 TTGGGGAAAGACTTTATCCAGG 0.436 4 2 --- --- --- --- TRBV5-6 28609 broad.mit.edu 37 7 142131738 142131739 + RNA INS - - A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr7:142131738_142131739insA ENST00000390375.2 - 0 90 ATGAGCACAGGGACAGCCTGGA 0.579 7 85 --- --- --- --- RP1L1 94137 broad.mit.edu 37 8 10465409 10465409 + Frame_Shift_Del DEL C C - TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:10465409delC ENST00000382483.3 - 4 6422 c.6199delG c.(6199-6201)ctfs p.A2067fs NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2067 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCCCTTCAGCCTCCTGTGCC 0.632 7 383 --- --- --- --- FGFR1 2260 broad.mit.edu 37 8 38285914 38285916 + In_Frame_Del DEL TCA TCA - TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:38285914_38285916delTCA ENST00000447712.2 - 4 1337_1339 c.396_398delTGA c.(394-399)gac>ga p.DD132del FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del|FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del|FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del|FGFR1_ENST00000341462.5_In_Frame_Del_p.DD135del|FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 132 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.D133N(3)|p.D44N(1) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TGAAGAGGAGtcatcatcatcat 0.498 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 7 57 --- --- --- --- POTEA 340441 broad.mit.edu 37 8 43216289 43216290 + RNA INS - - A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:43216289_43216290insA ENST00000522175.2 + 0 1542_1543 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGAAGTGGCCGAAAAAAAAATG 0.282 2 4 --- --- --- --- DSCC1 79075 broad.mit.edu 37 8 120865345 120865345 + Frame_Shift_Del DEL C C - TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr8:120865345delC ENST00000313655.4 - 2 507 c.293delG c.(292-294)ttfs p.C98fs NM_024094.2 NP_076999.2 Q9BVC3 DCC1_HUMAN DNA replication and sister chromatid cohesion 1 98 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CGGAGTTTTACAACCAGGAAT 0.398 38 81 --- --- --- --- PAOX 196743 broad.mit.edu 37 10 135203109 135203110 + Frame_Shift_Ins INS - - CA rs143081327 TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr10:135203109_135203110insCA ENST00000278060.5 + 6 1333_1334 c.1250_1251insCA c.(1249-1251)cgcfs p.R417fs PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Intron|PAOX_ENST00000480071.2_Intron NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 555 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 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;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) CCACGGCTCCCCGCGCCCAAGA 0.594 18 74 --- --- --- --- ATM 472 broad.mit.edu 37 11 108205764 108205766 + In_Frame_Del DEL AGG AGG - TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr11:108205764_108205766delAGG ENST00000278616.4 + 55 8464_8466 c.8079_8081delAGG c.(8077-8082)gca>gc p.AG2693del ATM_ENST00000452508.2_In_Frame_Del_p.AG2693del|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2693 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.G2695delG(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTCGCTTAGCAGGAGGTGTAAAT 0.399 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 27 55 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 5 7 --- --- --- --- WBP11P1 441818 broad.mit.edu 37 18 30091692 30091693 + RNA INS - - A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr18:30091692_30091693insA ENST00000567636.1 + 0 67_68 NR_003558.1 TGAAGGCCCTTACAAAGTGAAA 0.495 6 11 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194933 28194934 + In_Frame_Ins INS - - TGC rs34890218 TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx ED1E59A5-4626-4DF2-93EC-F2C42029DB0C 9C028E15-3FEC-4A06-91A1-B82D98C919DB g.chr22:28194933_28194934insTGC ENST00000302326.4 - 1 2552_2553 c.1598_1599insGCA c.(1597-1599)cca>cGCAca p.533_533P>RT NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 533 Poly-Gln. binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgctgttgctgctgctg 0.653 T ETV6 """AML, meningioma""" 4 2 --- --- --- ---