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 NHEJ1 79840 broad.mit.edu 37 2 219942055 219942055 + Silent SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr2:219942055C>A ENST00000356853.5 - 7 871 c.738G>T c.(736-738)ctG>ctT p.L246L NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Silent_p.L246L NM_024782.2 NP_079058.1 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 246 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 12 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) CGATTCCTTGCAGGGAAGCAC 0.463000 Non-homologous end-joining 12 31 6.53275e-17 7.79575e-17 1 1 0 WDR7 23335 broad.mit.edu 37 18 54385306 54385306 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr18:54385306C>G ENST00000254442.3 + 13 1901 c.1690C>G c.(1690-1692)Caa>Gaa p.Q564E WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.Q564E NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 564 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TTTTCCTATTCAAGTAATCAA 0.443000 38 20 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228505639 228505639 + Silent SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:228505639C>T ENST00000570156.2 + 64 16841 c.16767C>T c.(16765-16767)agC>agT p.S5589S OBSCN_ENST00000284548.11_Silent_p.S4632S|OBSCN_ENST00000366709.4_Silent_p.S1751S|OBSCN_ENST00000366707.4_Silent_p.S2266S|OBSCN_ENST00000422127.1_Silent_p.S4632S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4632 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) CCCCTGAGAGCCGGCAGGTGG 0.642000 20 45 0 0 1 0 0 MMS19 64210 broad.mit.edu 37 10 99237134 99237134 + Missense_Mutation SNP T T C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:99237134T>C ENST00000438925.2 - 6 798 c.463A>G c.(463-465)Atc>Gtc p.I155V MMS19_ENST00000370782.2_Missense_Mutation_p.I155V|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000327238.10_Missense_Mutation_p.I155V|MMS19_ENST00000355839.6_Missense_Mutation_p.I155V NM_022362.4 NP_071757.4 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog (S. cerevisiae) 155 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1) 16 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) AAATTGGTGATGATATTGTAG 0.468000 Direct reversal of damage 35 32 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8824761 8824761 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr18:8824761G>C ENST00000359865.3 + 15 3395 c.3253G>C c.(3253-3255)Gag>Cag p.E1085Q SOGA2_ENST00000400050.3_Missense_Mutation_p.E1044Q|SOGA2_ENST00000306285.7_Missense_Mutation_p.E410Q|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1404Q|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1044Q|SOGA2_ENST00000518815.1_Missense_Mutation_p.E410Q NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1395 CTTCCTGCCTGAGAAGGGCCT 0.577000 21 30 0 0 1 0 0 TNKS2 80351 broad.mit.edu 37 10 93579718 93579718 + Missense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:93579718C>T ENST00000371627.4 + 6 1035 c.656C>T c.(655-657)gCa>gTa p.A219V NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 219 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) CATTTGGCAGCAGGATATAAC 0.323000 27 33 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1719886 1719886 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chrX:1719886C>G ENST00000313871.3 + 5 1683 c.1487C>G c.(1486-1488)cCc>cGc p.P496R NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 496 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 GCCGGTGCCCCCAAGGAGAGC 0.716000 7 12 0 0 1 0 0 TCP10L 140290 broad.mit.edu 37 21 33949207 33949207 + Missense_Mutation SNP A A C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr21:33949207A>C ENST00000300258.3 - 5 638 c.525T>G c.(523-525)atT>atG p.I175M TCP10L_ENST00000491828.1_5'UTR NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 TCCACGAGCTAATTCTTTCTA 0.353000 74 9 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171405194 171405194 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr3:171405194C>G ENST00000356327.5 - 15 1790 c.1720G>C c.(1720-1722)Gca>Cca p.A574P PLD1_ENST00000340989.4_Missense_Mutation_p.A574P|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000351298.4_Missense_Mutation_p.A574P NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 574 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ATGCTATCTGCGTCGTGCAGG 0.438000 11 66 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 69064895 69064895 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr7:69064895G>C ENST00000342771.4 + 1 577 c.256G>C c.(256-258)Gac>Cac p.D86H AUTS2_ENST00000406775.2_Missense_Mutation_p.D86H|AUTS2_ENST00000403018.2_Missense_Mutation_p.D86H NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 86 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGCAGAAGAGGACATCATTGA 0.627000 12 41 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 624086 624086 + Missense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr16:624086G>T ENST00000321878.5 + 2 171 c.12G>T c.(10-12)aaG>aaT p.K4N PIGQ_ENST00000026218.5_Missense_Mutation_p.K4N|PIGQ_ENST00000409527.2_Missense_Mutation_p.K4N|PIGQ_ENST00000470411.2_Missense_Mutation_p.K4N NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 4 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) TGGTGCTCAAGGCCTTCTTCC 0.692000 7 43 0.00307968 0.00318649 1 1 0 SAMD14 201191 broad.mit.edu 37 17 48195666 48195666 + Silent SNP C C T rs145637965 TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr17:48195666C>T ENST00000330175.4 - 3 386 c.69G>A c.(67-69)acG>acA p.T23T SAMD14_ENST00000503131.1_Silent_p.T23T|SAMD14_ENST00000503734.1_5'UTR NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 23 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 CCAGTCTGGCCGTCTCTGGCA 0.662000 22 36 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118629562 118629562 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:118629562C>G ENST00000336338.5 - 11 1494 c.1429G>C c.(1429-1431)Gac>Cac p.D477H NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 477 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ATTCTGTGGTCTAGCCCGTCT 0.517000 34 74 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428651 10428651 + Missense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr17:10428651G>T ENST00000245503.5 - 33 4936 c.4552C>A c.(4552-4554)Ctc>Atc p.L1518I CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1518I NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1518 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 TGTTCCGTGAGGTCAGAAATC 0.383000 31 31 4.02929e-09 4.56482e-09 1 1 0 WDR88 126248 broad.mit.edu 37 19 33666381 33666381 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr19:33666381G>A ENST00000355868.3 + 11 1398 c.1322G>A c.(1321-1323)cGg>cAg p.R441Q WDR88_ENST00000361680.2_3'UTR NM_173479.3 NP_775750.3 Q6ZMY6 WDR88_HUMAN WD repeat domain 88 441 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) GTGTTCTGCCGGATAGATACA 0.483000 72 33 0 0 1 0 0 EIF5 1983 broad.mit.edu 37 14 103802403 103802403 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr14:103802403G>A ENST00000216554.3 + 4 779 c.103G>A c.(103-105)Gtt>Att p.V35I EIF5_ENST00000560200.1_Intron|EIF5_ENST00000558506.1_Missense_Mutation_p.V35I|EIF5_ENST00000392715.2_Missense_Mutation_p.V35I NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 35 regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) AATCAAGACAGTTATAGTCAA 0.398000 19 22 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46784249 46784249 + Missense_Mutation SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr11:46784249C>A ENST00000529230.1 - 31 4001 c.3955G>T c.(3955-3957)Gtc>Ttc p.V1319F CKAP5_ENST00000415402.1_Missense_Mutation_p.V1319F|CKAP5_ENST00000354558.3_Missense_Mutation_p.V1319F|CKAP5_ENST00000312055.5_Missense_Mutation_p.V1319F Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1319 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GCTGGGTAGACAAGGCACATC 0.418000 13 80 0.00185496 0.00194174 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 60 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46774557 46774557 + Silent SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr22:46774557C>A ENST00000262738.3 - 23 7313 c.7314G>T c.(7312-7314)cgG>cgT p.R2438R NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2438 GPS. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CGACATGTGTCCGGTTCCTGG 0.657000 6 12 8.12818e-05 8.66039e-05 1 1 0 COPE 11316 broad.mit.edu 37 19 19014116 19014116 + Nonsense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr19:19014116C>T ENST00000600932.1 - 8 796 c.765G>A c.(763-765)tgG>tgA p.W255* COPE_ENST00000262812.4_Nonsense_Mutation_p.W232*|COPE_ENST00000351079.4_Nonsense_Mutation_p.W181*|COPE_ENST00000349893.4_Intron|COPE_ENST00000598969.1_5'UTR O14579 COPE_HUMAN coatomer protein complex, subunit epsilon 232 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol binding|structural molecule activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 11 CAGCGGCCTCCCAGCGGCCCT 0.672000 13 32 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87968364 87968364 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr6:87968364G>A ENST00000369577.3 + 8 5060 c.5017G>A c.(5017-5019)Gta>Ata p.V1673I ZNF292_ENST00000339907.4_Missense_Mutation_p.V1668I NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TCATTCAAATGTAATTCCAAC 0.338000 3 25 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150554015 150554015 + Missense_Mutation SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr7:150554015C>A ENST00000493429.1 + 4 1041 c.457C>A c.(457-459)Cac>Aac p.H153N AOC1_ENST00000360937.4_Missense_Mutation_p.H153N|AOC1_ENST00000467291.1_Missense_Mutation_p.H153N|AOC1_ENST00000416793.2_Missense_Mutation_p.H153N amine oxidase, copper containing 1 CCTCCTCTACCACACCCTGCA 0.602000 26 90 9.90768e-06 1.07483e-05 1 1 0 DMD 1756 broad.mit.edu 37 X 32834617 32834617 + Silent SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chrX:32834617G>A ENST00000357033.4 - 6 704 c.498C>T c.(496-498)ggC>ggT p.G166G DMD_ENST00000288447.4_Silent_p.G158G|DMD_ENST00000378677.2_Silent_p.G162G NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 166 Actin-binding.|CH 2. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCAAAGCCAGGCCATCAGACC 0.388000 19 19 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390522 197390522 + Missense_Mutation SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:197390522C>A ENST00000367400.3 + 6 1699 c.1564C>A c.(1564-1566)Ctt>Att p.L522I CRB1_ENST00000367399.2_Missense_Mutation_p.L410I|CRB1_ENST00000544212.1_Missense_Mutation_p.L3I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.L522I|CRB1_ENST00000543483.1_Missense_Mutation_p.L221I|CRB1_ENST00000535699.1_Missense_Mutation_p.L453I|CRB1_ENST00000476483.1_3'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 522 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GCCAATGGCTCTTCTACTTTT 0.473000 16 59 6.31663e-08 7.06673e-08 1 1 0 HNRNPF 3185 broad.mit.edu 37 10 43882522 43882522 + Missense_Mutation SNP T T A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:43882522T>A ENST00000443950.2 - 3 1297 c.811A>T c.(811-813)Atg>Ttg p.M271L HNRNPF_ENST00000357065.4_Missense_Mutation_p.M271L|HNRNPF_ENST00000356053.3_Missense_Mutation_p.M271L|HNRNPF_ENST00000337970.3_Missense_Mutation_p.M271L|HNRNPF_ENST00000544000.1_Missense_Mutation_p.M271L NM_001098208.1 NP_001091678.1 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 271 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 TGGTCATACATTCCGGAGAGA 0.587000 7 16 0 0 1 0 0 LY6G6D 58530 broad.mit.edu 37 6 31683300 31683300 + Missense_Mutation SNP A A G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr6:31683300A>G ENST00000503322.1 + 5 827 c.824A>G c.(823-825)aAc>aGc p.N275S LY6G6F_ENST00000556581.1_Missense_Mutation_p.N275S|LY6G6D_ENST00000375825.3_Missense_Mutation_p.N26S CGGTGCTACAACTGTGGTGGA 0.617000 57 53 0 0 1 0 0 DMTN 2039 broad.mit.edu 37 8 21938938 21938938 + Missense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr8:21938938G>T ENST00000358242.3 + 16 1675 c.1182G>T c.(1180-1182)aaG>aaT p.K394N DMTN_ENST00000443491.2_Missense_Mutation_p.K347N|DMTN_ENST00000265800.5_Missense_Mutation_p.K394N|DMTN_ENST00000432128.1_Missense_Mutation_p.K394N|DMTN_ENST00000523782.2_Missense_Mutation_p.K347N|DMTN_ENST00000415253.1_Missense_Mutation_p.K372N|DMTN_ENST00000517600.1_Missense_Mutation_p.K354N|DMTN_ENST00000519907.1_Missense_Mutation_p.K372N|DMTN_ENST00000381470.3_Missense_Mutation_p.K372N|DMTN_ENST00000523266.1_Missense_Mutation_p.K394N dematin actin binding protein CTCTGTGGAAGCGGAATGAGC 0.602000 30 53 4.11147e-13 4.81016e-13 1 1 0 C6orf1 221491 broad.mit.edu 37 6 34214862 34214862 + Missense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr6:34214862C>T ENST00000476320.1 - 4 766 c.84G>A c.(82-84)atG>atA p.M28I C6orf1_ENST00000335352.3_Missense_Mutation_p.M8I|C6orf1_ENST00000468145.1_Missense_Mutation_p.M28I|C6orf1_ENST00000481533.1_Missense_Mutation_p.M28I|C6orf1_ENST00000413013.2_Missense_Mutation_p.M8I|C6orf1_ENST00000394990.4_Missense_Mutation_p.M28I NM_001008703.1 NP_001008703.1 Q86T20 CF001_HUMAN chromosome 6 open reading frame 1 28 extracellular region endometrium(1)|prostate(1) 2 Ovarian(999;0.0228) BRCA - Breast invasive adenocarcinoma(397;1.11e-10) TGCTCAGCCTCATGCAGTTCC 0.637000 OREG0017364 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 94 111 0 0 1 0 0 IFI44 10561 broad.mit.edu 37 1 79126276 79126276 + Silent SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:79126276C>T ENST00000370747.4 + 7 1135 c.1050C>T c.(1048-1050)agC>agT p.S350S IFI44_ENST00000545124.1_Silent_p.S67S|IFI44_ENST00000495254.1_Intron NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 350 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 ATGTGGATAGCATGGATTTGA 0.373000 22 26 0 0 1 0 0 MCHR1 2847 broad.mit.edu 37 22 41077549 41077549 + Missense_Mutation SNP G G A rs149149384 byFrequency TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr22:41077549G>A ENST00000249016.4 + 2 1582 c.886G>A c.(886-888)Gca>Aca p.A296T MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.A170T NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 296 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 CATCACAGCCGCATACGTGAG 0.622000 76 32 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 60 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123780597 123780597 + Missense_Mutation SNP T T G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chrX:123780597T>G ENST00000422452.2 - 9 1706 c.1643A>C c.(1642-1644)cAt>cCt p.H548P TENM1_ENST00000371130.3_Missense_Mutation_p.H548P NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TGGGAAACAATGACAATGGCC 0.368000 24 2 0 0 1 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122348922 122348922 + Nonsense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:122348922C>T ENST00000398250.1 + 7 1076 c.724C>T c.(724-726)Cga>Tga p.R242* PPAPDC1A_ENST00000369073.3_Nonsense_Mutation_p.R232*|PPAPDC1A_ENST00000439221.1_Nonsense_Mutation_p.R179*|PPAPDC1A_ENST00000398248.1_Silent_p.C91C NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 242 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) CGTTAGTCTGCGAGTCCCAGC 0.557000 17 66 0 0 1 0 0 BEND2 139105 broad.mit.edu 37 X 18221819 18221819 + Missense_Mutation SNP T T C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chrX:18221819T>C ENST00000380033.4 - 5 841 c.709A>G c.(709-711)Atc>Gtc p.I237V BEND2_ENST00000380030.3_Missense_Mutation_p.I237V NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 237 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 CCTCCACTGATAAAGTTCCAT 0.448000 58 5 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25458472 25458472 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr13:25458472C>G ENST00000381884.4 - 14 3792 c.3607G>C c.(3607-3609)Gac>Cac p.D1203H CENPJ_ENST00000545981.1_3'UTR NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 1203 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) ACTCTTTGGTCTGGCATGACC 0.438000 7 26 0 0 1 0 0 SFN 2810 broad.mit.edu 37 1 27190149 27190149 + Missense_Mutation SNP C C T rs78707984 TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:27190149C>T ENST00000339276.4 + 1 517 c.446C>T c.(445-447)tCa>tTa p.S149L NM_006142.3 NP_006133.1 P31947 1433S_HUMAN stratifin 149 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 9 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) TCAGCCCGGTCAGCCTACCAG 0.602000 22 54 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55452898 55452898 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr19:55452898G>C ENST00000588756.1 - 4 668 c.182C>G c.(181-183)aCc>aGc p.T61S NLRP7_ENST00000328092.5_Missense_Mutation_p.T61S|NLRP7_ENST00000448121.2_Missense_Mutation_p.T61S|NLRP7_ENST00000340844.2_Missense_Mutation_p.T61S|NLRP7_ENST00000592784.1_Missense_Mutation_p.T61S|NLRP7_ENST00000590030.1_Missense_Mutation_p.T61S|NLRP7_ENST00000446217.1_Missense_Mutation_p.T89S Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 61 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) TTCTGAGGAGGTGTTGACCAG 0.468000 32 56 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1049416 1049416 + Silent SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr19:1049416G>T ENST00000263094.6 + 18 2763 c.2532G>T c.(2530-2532)ggG>ggT p.G844G ABCA7_ENST00000435683.2_Silent_p.G706G|ABCA7_ENST00000433129.1_Silent_p.G844G NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 844 ABC transporter 1. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCACAACGGGGCCGGCAAGA 0.711000 20 44 3.8784e-16 4.56733e-16 1 1 0 C9 735 broad.mit.edu 37 5 39364512 39364512 + Missense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr5:39364512G>T ENST00000263408.4 - 1 150 c.55C>A c.(55-57)Ctc>Atc p.L19I C9_ENST00000509186.1_Intron NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 19 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TGTGCTGTGAGGATGCTTATT 0.507000 4 14 0.184627 0.185665 1 1 0 COL9A3 1299 broad.mit.edu 37 20 61458626 61458626 + Missense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr20:61458626C>T ENST00000343916.3 + 16 829 c.826C>T c.(826-828)Cgc>Tgc p.R276C NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 276 Triple-helical region 3 (COL3). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) AGAAGGGTTCCGCGGCCCCAA 0.612000 31 28 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60640752 60640752 + Silent SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr11:60640752G>A ENST00000278853.5 + 7 1230 c.1230G>A c.(1228-1230)cgG>cgA p.R410R NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 410 ZP. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TTGAGCTGCGGATTGCCAAAG 0.607000 26 155 0 0 1 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698201 70698201 + Silent SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr16:70698201C>A ENST00000338779.6 - 15 1897 c.1623G>T c.(1621-1623)ggG>ggT p.G541G FLJ00418_ENST00000597002.1_5'UTR NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 541 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 CGGTGGGCAGCCCAGCAGTGG 0.711000 7 37 0.00307968 0.00318649 1 1 0 HEATR5A 25938 broad.mit.edu 37 14 31790778 31790778 + Missense_Mutation SNP A A G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr14:31790778A>G ENST00000543095.2 - 25 4080 c.3896T>C c.(3895-3897)gTt>gCt p.V1299A HEATR5A_ENST00000389961.3_Missense_Mutation_p.V1293A|HEATR5A_ENST00000439348.1_Missense_Mutation_p.V1293A|HEATR5A_ENST00000439727.1_Missense_Mutation_p.V1006A NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1293 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TCGCCGAATAACAACTAACAG 0.428000 4 11 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32635161 32635161 + Nonsense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr11:32635161G>T ENST00000335185.5 - 16 2746 c.2703C>A c.(2701-2703)taC>taA p.Y901* NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 901 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) AAAAATTCATGTATACTGGAG 0.398000 82 9 6.14238e-36 7.96729e-36 1 1 0 OR52B6 340980 broad.mit.edu 37 11 5602834 5602834 + Missense_Mutation SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr11:5602834C>A ENST00000345043.2 + 1 728 c.728C>A c.(727-729)gCa>gAa p.A243E HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCCTCCAAGCAGTCTTCCGC 0.498000 87 12 7.69131e-47 1.01231e-46 1 1 0 FOXA1 3169 broad.mit.edu 37 14 38060648 38060648 + Silent SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr14:38060648C>T ENST00000250448.2 - 2 1402 c.1341G>A c.(1339-1341)agG>agA p.R447R FOXA1_ENST00000540786.1_Silent_p.R414R|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 447 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CGATGGGGCTCCTGGTGGTCA 0.612000 33 30 0 0 1 0 0 PSAT1 29968 broad.mit.edu 37 9 80919820 80919820 + Missense_Mutation SNP A A G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr9:80919820A>G ENST00000376588.3 + 4 429 c.361A>G c.(361-363)Ata>Gta p.I121V PSAT1_ENST00000347159.2_Missense_Mutation_p.I121V NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 121 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) GTTTGGGACTATAAATATCGT 0.502000 56 5 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97098980 97098980 + Silent SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:97098980C>A ENST00000371247.2 - 29 2964 c.2775G>T c.(2773-2775)gtG>gtT p.V925V SORBS1_ENST00000353505.5_Silent_p.V776V|SORBS1_ENST00000361941.3_Silent_p.V925V|SORBS1_ENST00000371227.4_Silent_p.V879V|SORBS1_ENST00000371239.1_Silent_p.V702V|SORBS1_ENST00000277982.5_Silent_p.V947V|SORBS1_ENST00000371245.3_Silent_p.V776V|SORBS1_ENST00000354106.3_Silent_p.V895V|SORBS1_ENST00000607232.1_Silent_p.V1185V|SORBS1_ENST00000347291.4_Silent_p.V737V|SORBS1_ENST00000371249.2_Silent_p.V707V|SORBS1_ENST00000371246.2_Silent_p.V947V|SORBS1_ENST00000306402.6_Silent_p.V672V|SORBS1_ENST00000393949.1_Silent_p.V895V|SORBS1_ENST00000371241.1_Silent_p.V575V Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 925 SH3 2. focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GTCGCTTGATCACATCCACGT 0.557000 49 32 5.7616e-29 7.36662e-29 1 1 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 5 62 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179576864 179576864 + Nonsense_Mutation SNP T T A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr3:179576864T>A ENST00000467460.1 - 8 1138 c.808A>T c.(808-810)Aaa>Taa p.K270* PEX5L_ENST00000465751.1_Nonsense_Mutation_p.K246*|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.K162*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.K268*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.K227*|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.K162*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.K78*|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.K211*|PEX5L_ENST00000485199.1_Nonsense_Mutation_p.K235* NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 270 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) ACTGCTGCTTTTGCCCTTTCA 0.393000 12 47 0 0 1 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964334 7964334 + Missense_Mutation SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr19:7964334C>A ENST00000306708.6 + 3 1028 c.927C>A c.(925-927)ttC>ttA p.F309L AC010336.1_ENST00000539278.1_3'UTR NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 309 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 CCCACCTCTTCTCCAAGCTGG 0.557000 19 25 1.33834e-09 1.52587e-09 1 1 0 CLOCK 9575 broad.mit.edu 37 4 56315583 56315583 + Missense_Mutation SNP T T C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr4:56315583T>C ENST00000309964.4 - 16 1679 c.1429A>G c.(1429-1431)Agg>Ggg p.R477G CLOCK_ENST00000513440.1_Missense_Mutation_p.R477G|CLOCK_ENST00000381322.1_Missense_Mutation_p.R477G NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 477 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) AATGATGACCTTCTTTGCACC 0.398000 45 31 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9256432 9256432 + Missense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr18:9256432C>T ENST00000383440.2 + 8 3355 c.3098C>T c.(3097-3099)tCa>tTa p.S1033L ANKRD12_ENST00000262126.3_Missense_Mutation_p.S1056L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1033L NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1056 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AAACCTAAGTCATCACCAGCA 0.328000 51 56 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37951817 37951817 + Missense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr7:37951817C>T ENST00000436072.2 - 4 1072 c.695G>A c.(694-696)cGa>cAa p.R232Q EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 232 NTR. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.R232Q(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GACTTGAGTTCGAGGGATGGG 0.478000 17 56 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144314011 144314011 + Silent SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr2:144314011C>A ENST00000295095.6 + 11 1127 c.960C>A c.(958-960)ggC>ggA p.G320G RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 320 Rho-GAP. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) GAGTTAGTGGCAATCTGGCAA 0.313000 57 5 1.72039e-30 2.21547e-30 1 1 0 NFS1 9054 broad.mit.edu 37 20 34262286 34262286 + Silent SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr20:34262286G>T ENST00000374092.4 - 10 1192 c.1122C>A c.(1120-1122)gcC>gcA p.A374A NFS1_ENST00000540053.1_Silent_p.A172A|NFS1_ENST00000397425.1_Silent_p.A314A|NFS1_ENST00000374085.1_Silent_p.A314A|NFS1_ENST00000541387.1_Silent_p.A323A NM_021100.4 NP_066923.3 Q9Y697 NFS1_HUMAN NFS1 cysteine desulfurase 374 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CTGAGGATAAGGCAACGTCCT 0.512000 41 76 9.39024e-22 1.15127e-21 1 1 0 WDR3 10885 broad.mit.edu 37 1 118496120 118496120 + Missense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:118496120G>T ENST00000349139.4 + 21 2271 c.2224G>T c.(2224-2226)Gac>Tac p.D742Y NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 742 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) GACTCAAGGTGACAGTTACTT 0.333000 5 21 0.0215528 0.0219201 1 1 0 PAK2 5062 broad.mit.edu 37 3 196545014 196545014 + Silent SNP A A T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr3:196545014A>T ENST00000327134.3 + 12 1462 c.1140A>T c.(1138-1140)ggA>ggT p.G380G NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 380 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) GAATGGAAGGATCTGTTAAGC 0.333000 29 20 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94740703 94740703 + Splice_Site SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr7:94740703G>T ENST00000289495.5 + 2 1744 c.1528_splice c.e2+1 p.D510_splice PPP1R9A_ENST00000424654.1_Splice_Site_p.D510_splice|PPP1R9A_ENST00000340694.4_Splice_Site_p.D510_splice|PPP1R9A_ENST00000433360.1_Splice_Site_p.D510_splice|PPP1R9A_ENST00000456331.2_Splice_Site_p.D510_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.D510_splice NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 510 PDZ. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GCTAGAGAAAGGTTCGTGAGT 0.368000 HNSCC(28;0.073) 17 13 2.94398e-08 3.31429e-08 1 1 0 IKZF2 22807 broad.mit.edu 37 2 213878616 213878616 + Missense_Mutation SNP T T A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr2:213878616T>A ENST00000457361.1 - 7 923 c.755A>T c.(754-756)gAc>gTc p.D252V IKZF2_ENST00000451136.2_Missense_Mutation_p.D180V|IKZF2_ENST00000434687.1_Missense_Mutation_p.D252V|IKZF2_ENST00000374319.4_Missense_Mutation_p.D226V|IKZF2_ENST00000342002.2_Missense_Mutation_p.D258V|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Missense_Mutation_p.D107V|IKZF2_ENST00000421754.2_Intron NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) AATATTGTTGTCCATAATAGG 0.383000 38 4 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169507197 169507197 + Missense_Mutation SNP A A T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr5:169507197A>T ENST00000256935.8 + 50 5277 c.5197A>T c.(5197-5199)Acc>Tcc p.T1733S DOCK2_ENST00000540750.1_Missense_Mutation_p.T794S|DOCK2_ENST00000520908.1_Missense_Mutation_p.T1225S|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1733 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATGAGTGACACCAACCTCTC 0.552000 39 5 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2962292 2962292 + Missense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr7:2962292G>T ENST00000396946.4 - 17 2648 c.2245C>A c.(2245-2247)Ctg>Atg p.L749M NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 749 PDZ. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGTAGTGCAGCGTGACGGGG 0.627000 Mis DLBCL 32 95 8.16721e-17 9.68166e-17 1 1 0 RTN1 6252 broad.mit.edu 37 14 60193673 60193673 + Missense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr14:60193673C>T ENST00000267484.5 - 3 2064 c.1729G>A c.(1729-1731)Gcc>Acc p.A577T NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 577 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity p.A577T(1) central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GGGGGCGGGGCGCCAGGACCT 0.582000 15 17 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8499688 8499688 + Missense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr9:8499688C>T ENST00000381196.4 - 22 2824 c.2281G>A c.(2281-2283)Ggc>Agc p.G761S PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.G748S|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.G761S|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.G748S|PTPRD_ENST00000540109.1_Missense_Mutation_p.G761S|PTPRD_ENST00000471274.1_5'UTR NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 761 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATGGGCTGGCCCTTGGGCTCA 0.433000 TSP Lung(15;0.13) 18 63 0 0 1 0 0 TXNL4B 54957 broad.mit.edu 37 16 72122887 72122887 + Splice_Site SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr16:72122887C>A ENST00000268483.3 - 3 604 c.284_splice c.e3+1 p.G95_splice TXNL4B_ENST00000423037.1_Splice_Site_p.G95_splice|TXNL4B_ENST00000426362.2_Splice_Site_p.G95_splice NM_001142318.1|NM_017853.2 NP_001135790.1|NP_060323.1 Q9NX01 TXN4B_HUMAN thioredoxin-like 4B 95 mitosis|mRNA processing|RNA splicing spliceosomal complex cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2) 8 TGCACTTACCCATAATCCACT 0.383000 48 29 4.33383e-22 5.35004e-22 1 1 0 SGMS1-AS1 104355295 broad.mit.edu 37 10 52390368 52390368 + RNA SNP A A G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:52390368A>G ENST00000443374.1 + 0 1061 ACCAAGGATTATACTTCAAAA 0.393000 11 6 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7727426 7727426 + Missense_Mutation SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr6:7727426C>A ENST00000283147.6 + 1 397 c.238C>A c.(238-240)Cag>Aag p.Q80K NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 80 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) GCGGGAGATGCAGAAGGAGAT 0.746000 8 27 0.00829132 0.00848083 1 1 0 KDM6B 23135 broad.mit.edu 37 17 7752161 7752161 + Missense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr17:7752161C>T ENST00000254846.5 + 11 2944 c.2555C>T c.(2554-2556)tCa>tTa p.S852L KDM6B_ENST00000448097.2_Missense_Mutation_p.S852L NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 852 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CCGCCCACCTCAGCGGCCCCT 0.716000 209 14 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22155589 22155589 + Missense_Mutation SNP A A C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr16:22155589A>C ENST00000389398.5 + 26 2710 c.2614A>C c.(2614-2616)Aaa>Caa p.K872Q VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 872 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) ATATGGGCTCAAAAAATTGAA 0.438000 14 10 0 0 1 0 0 IDI2 91734 broad.mit.edu 37 10 1065569 1065569 + Missense_Mutation SNP A A T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:1065569A>T ENST00000277517.1 - 5 636 c.572T>A c.(571-573)gTc>gAc p.V191D GTPBP4_ENST00000360803.4_3'UTR NM_033261.2 NP_150286.1 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 191 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) GGTGACTTTGACTTCACCCCT 0.562000 25 10 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87588063 87588063 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr8:87588063G>A ENST00000320005.5 - 18 2446 c.2399C>T c.(2398-2400)aCt>aTt p.T800I NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 800 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GACTTCAATAGTAAGAACCTC 0.403000 35 32 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73562574 73562574 + Splice_Site SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr15:73562574G>A ENST00000339362.5 + 18 3165 c.2718_splice c.e18+1 p.K906_splice NEO1_ENST00000560262.1_Splice_Site_p.K906_splice|NEO1_ENST00000261908.6_Splice_Site_p.K906_splice|NEO1_ENST00000558964.1_Splice_Site_p.K906_splice Q92859 NEO1_HUMAN neogenin 1 906 Fibronectin type-III 5. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CCAAGTACAAGGTACTGACAC 0.428000 13 34 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7621799 7621799 + Missense_Mutation SNP A A T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:7621799A>T ENST00000256861.6 - 9 1415 c.1337T>A c.(1336-1338)cTg>cAg p.L446Q ITIH5_ENST00000397146.2_Missense_Mutation_p.L446Q|ITIH5_ENST00000298441.6_Missense_Mutation_p.L232Q|ITIH5_ENST00000446830.2_Missense_Mutation_p.L228Q|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.L446Q NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 446 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 TTTCTCCAGCAGCCTGAAGTC 0.612000 31 55 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80828234 80828234 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr17:80828234C>G ENST00000355528.4 + 14 1583 c.1453C>G c.(1453-1455)Ccc>Gcc p.P485A TBCD_ENST00000397466.2_Missense_Mutation_p.P99A|TBCD_ENST00000539345.2_Missense_Mutation_p.P485A NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 485 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GGAGCTGAAGCCCTTTGTGAC 0.647000 27 3 0 0 1 0 0 VEZF1 7716 broad.mit.edu 37 17 56060120 56060120 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr17:56060120G>C ENST00000584396.1 - 2 729 c.641C>G c.(640-642)tCt>tGt p.S214C VEZF1_ENST00000581208.1_Missense_Mutation_p.S223C Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 223 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 TCCTTCATGAGACCTCACATG 0.448000 55 4 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732795 152732795 + Missense_Mutation SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:152732795C>A ENST00000368773.1 + 2 789 c.731C>A c.(730-732)aCt>aAt p.T244N KPRP_ENST00000606109.1_Missense_Mutation_p.T244N NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 244 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGGAGCTTCACTGAACAGCAC 0.607000 69 130 1.08241e-25 1.37412e-25 1 1 0 PPP6R3 55291 broad.mit.edu 37 11 68312325 68312325 + Nonsense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr11:68312325G>T ENST00000393799.2 + 4 514 c.247G>T c.(247-249)Gag>Tag p.E83* PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000534534.1_5'UTR|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.E83* Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 83 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TATATCTTGTGAGTTGCTCAC 0.343000 36 16 2.51541e-25 3.17083e-25 1 1 0 SEMA4G 57715 broad.mit.edu 37 10 102732979 102732979 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:102732979G>A ENST00000210633.3 + 2 296 c.218G>A c.(217-219)cGa>cAa p.R73Q SEMA4G_ENST00000517724.1_Missense_Mutation_p.R73Q|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000370250.4_Missense_Mutation_p.R73Q Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 73 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) GTGGGAGCCCGAGGTGCCCTG 0.602000 21 23 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87525410 87525410 + Silent SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr16:87525410G>A ENST00000268616.4 - 1 241 c.24C>T c.(22-24)ttC>ttT p.F8F NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 8 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GGTGGAAGCTGAAGGCCGGGT 0.677000 31 17 0 0 1 0 0 MEIS1 4211 broad.mit.edu 37 2 66691249 66691249 + Nonsense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr2:66691249G>A ENST00000488550.1 + 7 938 c.639G>A c.(637-639)tgG>tgA p.W213* MEIS1_ENST00000495021.2_Nonsense_Mutation_p.W148*|MEIS1_ENST00000272369.9_Nonsense_Mutation_p.W213*|MEIS1_ENST00000398506.2_Nonsense_Mutation_p.W211*|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000560281.2_Nonsense_Mutation_p.W213*|MEIS1_ENST00000444274.2_Nonsense_Mutation_p.W181*|MEIS1_ENST00000407092.2_Nonsense_Mutation_p.W213* O00470 MEIS1_HUMAN Meis homeobox 1 213 Ser/Thr-rich. sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 AGCCCTCTTGGAACAGAGATC 0.542000 3 2 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101216286 101216286 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr9:101216286C>G ENST00000259455.2 - 7 1672 c.1213G>C c.(1213-1215)Gag>Cag p.E405Q NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 405 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) AAGTTGGTCTCGTTCATGGCA 0.557000 51 5 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39364513 39364513 + Silent SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr5:39364513G>T ENST00000263408.4 - 1 149 c.54C>A c.(52-54)atC>atA p.I18I C9_ENST00000509186.1_Intron NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 18 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GTGCTGTGAGGATGCTTATTT 0.512000 4 15 0.184627 0.185665 1 1 0 TSPAN2 10100 broad.mit.edu 37 1 115593159 115593159 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:115593159G>C ENST00000369516.2 - 8 649 c.618C>G c.(616-618)ttC>ttG p.F206L TSPAN2_ENST00000369515.2_Missense_Mutation_p.F181L|TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369514.2_Missense_Mutation_p.F178L NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 206 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) GGACCATGCTGAATATCATGC 0.403000 28 21 0 0 1 0 0 NELFB 25920 broad.mit.edu 37 9 140150814 140150814 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr9:140150814C>G ENST00000343053.4 + 3 637 c.300C>G c.(298-300)agC>agG p.S100R NM_015456.3 NP_056271.2 negative elongation factor complex member B TGGAGAAGAGCTTTTCTCTGG 0.567000 77 91 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147108779 147108779 + Missense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr3:147108779G>T ENST00000383075.3 - 4 1455 c.943C>A c.(943-945)Cac>Aac p.H315N ZIC4_ENST00000525172.2_Missense_Mutation_p.H365N|ZIC4_ENST00000491672.1_Missense_Mutation_p.H109N|ZIC4_ENST00000473123.1_Missense_Mutation_p.H315N|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.H315N|ZIC4_ENST00000425731.3_Missense_Mutation_p.H353N NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 315 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 TGGGACTTGTGGCCGCAGTCC 0.697000 7 48 0.248553 0.248553 1 1 0 BMP6 654 broad.mit.edu 37 6 7727427 7727427 + Missense_Mutation SNP A A G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr6:7727427A>G ENST00000283147.6 + 1 398 c.239A>G c.(238-240)cAg>cGg p.Q80R NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 80 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) CGGGAGATGCAGAAGGAGATC 0.746000 8 28 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230723591 230723591 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr2:230723591G>C ENST00000283943.5 - 3 976 c.798C>G c.(796-798)ttC>ttG p.F266L TRIP12_ENST00000409677.1_Missense_Mutation_p.F308L|TRIP12_ENST00000389044.4_Missense_Mutation_p.F308L|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.F308L NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 266 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CTTTAGGGCTGAAACGAGCAG 0.468000 40 2 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152621877 152621877 + Missense_Mutation SNP T T C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr6:152621877T>C ENST00000367255.5 - 93 18182 c.17581A>G c.(17581-17583)Act>Gct p.T5861A SYNE1_ENST00000341594.5_Missense_Mutation_p.T5473A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5790A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T385A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5861A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5790A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5861 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) GACTCCTCAGTGACCGGTGAC 0.493000 HNSCC(10;0.0054) 32 27 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215976396 215976396 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr2:215976396C>G ENST00000272895.7 - 2 306 c.87G>C c.(85-87)ttG>ttC p.L29F ABCA12_ENST00000412081.1_Missense_Mutation_p.L29F NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 29 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GCCATAAGATCAAGACAAGTG 0.303000 35 3 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65260017 65260017 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr14:65260017G>C ENST00000389722.3 - 13 2417 c.2364C>G c.(2362-2364)ttC>ttG p.F788L SPTB_ENST00000389721.5_Missense_Mutation_p.F788L|SPTB_ENST00000556626.1_Missense_Mutation_p.F788L|SPTB_ENST00000542895.1_Missense_Mutation_p.F788L|SPTB_ENST00000389720.3_Missense_Mutation_p.F788L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 788 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCTCCTCCAGGAAGTCCTTGT 0.632000 52 117 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63526202 63526202 + Missense_Mutation SNP A A T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr18:63526202A>T ENST00000536984.2 + 9 2108 c.1414A>T c.(1414-1416)Ata>Tta p.I472L CDH7_ENST00000323011.3_Missense_Mutation_p.I472L|CDH7_ENST00000397968.2_Missense_Mutation_p.I472L Q9ULB5 CADH7_HUMAN cadherin 7, type 2 472 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GGCCATCACTATACTTGACAT 0.428000 17 13 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194061797 194061797 + Silent SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr3:194061797G>T ENST00000323830.3 - 2 1724 c.1635C>A c.(1633-1635)ccC>ccA p.P545P CPN2_ENST00000429275.1_Silent_p.P545P NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 545 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GCTGCTACTAGGGCCCTGCTG 0.647000 5 28 5.9392e-07 6.56245e-07 1 1 0 A1BG 1 broad.mit.edu 37 19 58864318 58864318 + Nonsense_Mutation SNP T T A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr19:58864318T>A ENST00000263100.3 - 3 377 c.316A>T c.(316-318)Aag>Tag p.K106* A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000595302.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 106 Ig-like V-type 1. extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) TCCAGGAGCTTGCTCAGCTGG 0.637000 87 48 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22749536 22749536 + RNA SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr4:22749536G>A ENST00000503442.1 + 0 377 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGGCACTGCTGATTTTTTTGC 0.398000 4 1 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27772766 27772766 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr15:27772766G>C ENST00000333743.6 + 8 1307 c.1053G>C c.(1051-1053)aaG>aaC p.K351N RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 351 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CCACGAAGAAGACAACATCGG 0.488000 6 6 0 0 1 0 0 CSAG4 100130935 broad.mit.edu 37 X 151896316 151896316 + RNA SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chrX:151896316G>A ENST00000361201.4 - 0 414 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 CTTCCTTGACGGGTCCCTGTT 0.537000 51 8 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172557963 172557963 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:172557963G>C ENST00000367723.3 + 17 2302 c.2178G>C c.(2176-2178)gaG>gaC p.E726D SUCO_ENST00000263688.3_Missense_Mutation_p.E574D NM_016227.2 NP_057311.2 SUN domain containing ossification factor CTCCAAAAGAGAGTCCCATTG 0.428000 10 8 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9546608 9546608 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr20:9546608C>G ENST00000378429.3 - 6 1960 c.1414G>C c.(1414-1416)Ggg>Cgg p.G472R PAK7_ENST00000353224.5_Missense_Mutation_p.G472R|PAK7_ENST00000378423.1_Missense_Mutation_p.G472R NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 472 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) ACTTGTTTCCCTGTGTGTTTC 0.502000 21 87 0 0 1 0 0 CD207 50489 broad.mit.edu 37 2 71060790 71060790 + Missense_Mutation SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr2:71060790C>A ENST00000410009.3 - 3 597 c.552G>T c.(550-552)ttG>ttT p.L184F NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 184 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 GTCGTTTGAGCAACTTGCTCA 0.478000 14 7 1.3612e-06 1.49482e-06 1 1 0 SLC30A4 7782 broad.mit.edu 37 15 45778867 45778867 + Silent SNP A A G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr15:45778867A>G ENST00000261867.4 - 7 1391 c.1077T>C c.(1075-1077)gaT>gaC p.D359D RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 359 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) AGATATTTAAATCTTCGACTG 0.368000 43 70 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747091 94747091 + Silent SNP T T C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr8:94747091T>C ENST00000399300.2 - 3 1761 c.1548A>G c.(1546-1548)ccA>ccG p.P516P RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.P516P NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 516 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) AGTATATTGGTGGGTCTTTTG 0.443000 45 62 0 0 1 0 0 SPSB1 80176 broad.mit.edu 37 1 9416329 9416329 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:9416329G>A ENST00000328089.6 + 2 720 c.379G>A c.(379-381)Gtc>Atc p.V127I SPSB1_ENST00000377399.2_Missense_Mutation_p.V127I|SPSB1_ENST00000357898.3_Missense_Mutation_p.V127I NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 127 B30.2/SPRY. intracellular signal transduction cytoplasm breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) CCTGCACTCTGTCGGGTACAC 0.652000 39 31 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25515919 25515919 + Missense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr6:25515919C>T ENST00000329474.6 + 21 2017 c.1649C>T c.(1648-1650)tCc>tTc p.S550F NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 550 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 CAGTCCTTGTCCCTGGCTGAC 0.542000 7 13 0 0 1 0 0 TRIM47 91107 broad.mit.edu 37 17 73872555 73872555 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr17:73872555G>A ENST00000254816.2 - 3 816 c.790C>T c.(790-792)Cgg>Tgg p.R264W RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.R26W NM_033452.2 NP_258411.2 Q96LD4 TRI47_HUMAN tripartite motif containing 47 264 cytoplasm|nucleus zinc ion binding autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) ACCCTCTCCCGCTCTGCTACG 0.652000 8 25 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15791302 15791302 + Silent SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr19:15791302C>A ENST00000550308.1 + 5 878 c.498C>A c.(496-498)atC>atA p.I166I CYP4F12_ENST00000324632.9_Silent_p.I166I NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) ATATAACGATCTTCAACAAGA 0.532000 38 25 6.5261e-18 7.84008e-18 1 1 0 NRG3 10718 broad.mit.edu 37 10 84733553 84733553 + Missense_Mutation SNP G G A rs142991883 by1000genomes TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:84733553G>A ENST00000372142.2 + 8 905 c.631G>A c.(631-633)Gtg>Atg p.V211M NRG3_ENST00000404547.1_Missense_Mutation_p.V432M|NRG3_ENST00000404576.2_Missense_Mutation_p.V236M|NRG3_ENST00000372141.2_Missense_Mutation_p.V432M|NRG3_ENST00000545131.1_Missense_Mutation_p.V82M|NRG3_ENST00000556918.1_Missense_Mutation_p.V262M|NRG3_ENST00000537893.1_Missense_Mutation_p.V82M NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 432 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GTATTCAAAGGTGGAAAGGCA 0.473000 16 27 0 0 1 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12954486 12954486 + Missense_Mutation SNP A A G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:12954486A>G ENST00000235347.4 - 3 876 c.797T>C c.(796-798)cTg>cCg p.L266P NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 266 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGGGTAGTACAGGCAGAGGAA 0.463000 30 99 0 0 1 0 0 BSCL2 26580 broad.mit.edu 37 11 62459908 62459908 + Missense_Mutation SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr11:62459908C>G ENST00000433053.1 - 7 1359 c.803G>C c.(802-804)aGc>aCc p.S268T BSCL2_ENST00000360796.5_Missense_Mutation_p.S268T|BSCL2_ENST00000278893.7_Missense_Mutation_p.S204T|BSCL2_ENST00000407022.3_Missense_Mutation_p.S204T|BSCL2_ENST00000403550.1_Missense_Mutation_p.S204T|BSCL2_ENST00000421906.1_Missense_Mutation_p.S204T|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.S268T Q96G97 BSCL2_HUMAN Berardinelli-Seip congenital lipodystrophy 2 (seipin) 204 cell death integral to endoplasmic reticulum membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 GATGCGCTTGCTGTGGATCTC 0.622000 18 47 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135738628 135738628 + Missense_Mutation SNP T T C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr2:135738628T>C ENST00000375845.3 - 9 3713 c.3683A>G c.(3682-3684)cAt>cGt p.H1228R MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.H360R|MAP3K19_ENST00000375844.3_Missense_Mutation_p.H410R|MAP3K19_ENST00000315513.3_Missense_Mutation_p.H89R|MAP3K19_ENST00000392918.3_Missense_Mutation_p.H362R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H1115R NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TGGAGTCCCATGCATGGACTT 0.478000 46 5 0 0 1 0 0 NRF1 4899 broad.mit.edu 37 7 129311379 129311379 + Missense_Mutation SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr7:129311379C>A ENST00000393232.1 + 3 451 c.334C>A c.(334-336)Ctt>Att p.L112I NRF1_ENST00000539636.1_Intron|NRF1_ENST00000393230.2_Missense_Mutation_p.L112I|NRF1_ENST00000353868.4_Missense_Mutation_p.L112I|NRF1_ENST00000311967.2_Missense_Mutation_p.L112I|NRF1_ENST00000223190.4_Missense_Mutation_p.L112I|NRF1_ENST00000393231.3_Missense_Mutation_p.L112I NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 112 generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 AACACGTTTGCTTCGGTGAGG 0.448000 18 5 5.3912e-06 5.8843e-06 1 1 0 MAVS 57506 broad.mit.edu 37 20 3846449 3846449 + Silent SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr20:3846449C>A ENST00000428216.2 + 7 1406 c.1278C>A c.(1276-1278)tcC>tcA p.S426S MAVS_ENST00000416600.2_Silent_p.S285S|MAVS_ENST00000358134.6_3'UTR NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 426 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 TGCTGGCATCCCAGGTAGACA 0.642000 21 30 1.96292e-10 2.25233e-10 1 1 0 OR56B4 196335 broad.mit.edu 37 11 6129291 6129291 + Missense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr11:6129291G>T ENST00000316529.3 + 1 378 c.283G>T c.(283-285)Gcc>Tcc p.A95S NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGTTTGATGCCAAGGCCAT 0.507000 51 11 4.18559e-23 5.20292e-23 1 1 0 MAP3K1 4214 broad.mit.edu 37 5 56177591 56177591 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr5:56177591G>A ENST00000399503.3 + 14 2564 c.2564G>A c.(2563-2565)cGt>cAt p.R855H NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 855 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) ATGCGTCGCCGTTTGATGGCT 0.473000 4 66 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578642 44578642 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr7:44578642G>C ENST00000289547.4 - 2 1409 c.1354C>G c.(1354-1356)Cgg>Ggg p.R452G NPC1L1_ENST00000423141.1_Missense_Mutation_p.R452G|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R452G|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R452G NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 452 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TGGAGGTGCCGCAGCCTCTCC 0.597000 28 18 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A rs147809085 TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr20:29625956G>A ENST00000278882.3 + 5 580 c.200G>A c.(199-201)aGa>aAa p.R67K FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K p.R67K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTGGACCAAGAGAACAATGG 0.338000 4 73 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77662323 77662323 + Silent SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr4:77662323G>A ENST00000296043.6 + 5 3950 c.2997G>A c.(2995-2997)gtG>gtA p.V999V NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 999 ASD1. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CCAGGCCCGTGCCCCCTGCCG 0.741000 3 1 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70020388 70020388 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr16:70020388G>A ENST00000325845.7 - 21 2169 c.100C>T c.(100-102)Cgt>Tgt p.R34C PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR|RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.R49C p.R49C(2)|p.R34C(1) breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 TCACGATGACGATGGTCAGCC 0.363000 5 63 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28326847 28326847 + Missense_Mutation SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr15:28326847C>A ENST00000354638.3 - 2 329 c.174G>T c.(172-174)caG>caT p.Q58H OCA2_ENST00000382996.2_Missense_Mutation_p.Q58H|OCA2_ENST00000353809.5_Missense_Mutation_p.Q58H NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 58 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.Q58H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CCCAAGAGCTCTGCCCGGCAG 0.597000 Oculocutaneous Albinism 10 20 1.08611e-07 1.20754e-07 1 1 0 OR2B6 26212 broad.mit.edu 37 6 27925464 27925464 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr6:27925464G>C ENST00000244623.1 + 1 446 c.446G>C c.(445-447)tGg>tCg p.W149S NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCTGCATCCTGGGTTACTGGT 0.493000 47 88 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34851447 34851447 + Silent SNP C C T rs116733850 byFrequency TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr7:34851447C>T ENST00000360581.1 + 4 578 c.450C>T c.(448-450)atC>atT p.I150I NPSR1_ENST00000359791.1_Silent_p.I150I|NPSR1_ENST00000381539.3_Silent_p.I150I|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Silent_p.I139I NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 150 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) ACCATGCCATCGTCTACCCCA 0.468000 49 91 0 0 1 0 0 AK3 50808 broad.mit.edu 37 9 4718523 4718523 + Silent SNP C C G TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr9:4718523C>G ENST00000381809.3 - 4 689 c.459G>C c.(457-459)ctG>ctC p.L153L AK3_ENST00000359883.2_Silent_p.L83L|AK3_ENST00000447596.4_Silent_p.L113L NM_016282.3 NP_057366.2 Q9UIJ7 KAD3_HUMAN adenylate kinase 3 153 blood coagulation mitochondrial matrix ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity large_intestine(2)|lung(1)|ovary(2) 5 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0302) GCTCCCCAGTCAGGTCATCAA 0.378000 21 6 0 0 1 0 0 TNNT2 7139 broad.mit.edu 37 1 201334340 201334340 + Silent SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:201334340G>A ENST00000509001.1 - 9 646 c.360C>T c.(358-360)ctC>ctT p.L120L TNNT2_ENST00000367315.2_Silent_p.L120L|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367322.1_Silent_p.L120L|TNNT2_ENST00000367317.4_Silent_p.L120L|TNNT2_ENST00000421663.2_Silent_p.L122L|TNNT2_ENST00000458432.2_Silent_p.L132L|TNNT2_ENST00000236918.7_Silent_p.L125L|TNNT2_ENST00000360372.4_Silent_p.L115L|TNNT2_ENST00000367318.5_Silent_p.L120L NM_001276347.1 NP_001263276.1 P45379 TNNT2_HUMAN troponin T type 2 (cardiac) 130 F -> I (in CMH2).|F -> V (in CMH2). ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 TGAGAGAAACGAGCTCCTCCT 0.547000 26 139 0 0 1 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416310 57416310 + Missense_Mutation SNP G G C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr16:57416310G>C ENST00000565912.1 + 2 3152 c.446G>C c.(445-447)cGa>cCa p.R149P CX3CL1_ENST00000006053.6_Missense_Mutation_p.R187P|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.R193P P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 187 Mucin-like stalk. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 GAGCTTTTCCGAGTGCCTCCC 0.682000 21 65 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72267113 72267113 + Missense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr8:72267113G>T ENST00000340726.3 - 3 667 c.28C>A c.(28-30)Cat>Aat p.H10N EYA1_ENST00000303824.7_Missense_Mutation_p.H10N|EYA1_ENST00000419131.1_Missense_Mutation_p.H10N|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.H10N|EYA1_ENST00000388743.2_Missense_Mutation_p.H10N|EYA1_ENST00000388741.2_Intron NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 10 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AGACGGCTATGCGGGCTGGTT 0.453000 55 87 3.21867e-24 4.02897e-24 1 1 0 PLEKHG1 57480 broad.mit.edu 37 6 151152226 151152226 + Missense_Mutation SNP T T A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr6:151152226T>A ENST00000367328.1 + 16 2291 c.1979T>A c.(1978-1980)gTc>gAc p.V660D PLEKHG1_ENST00000358517.2_Missense_Mutation_p.V660D NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 660 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) ATAGACCATGTCTATGATAAC 0.473000 18 18 0 0 1 0 0 BTLA 151888 broad.mit.edu 37 3 112198587 112198587 + Missense_Mutation SNP T T C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr3:112198587T>C ENST00000334529.5 - 2 320 c.118A>G c.(118-120)Ata>Gta p.I40V BTLA_ENST00000383680.4_Missense_Mutation_p.I40V NM_181780.3 NP_861445.3 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated 40 T cell costimulation receptor activity breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1) 11 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) TGTCTCTTTATATAAAGCTGT 0.358000 24 22 0 0 1 0 0 YAP1 10413 broad.mit.edu 37 11 101981896 101981896 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr11:101981896G>A ENST00000282441.5 + 1 705 c.317G>A c.(316-318)cGa>cAa p.R106Q YAP1_ENST00000531439.1_Missense_Mutation_p.R106Q|YAP1_ENST00000526343.1_Missense_Mutation_p.R106Q|YAP1_ENST00000537274.1_Missense_Mutation_p.R106Q|YAP1_ENST00000345877.2_Missense_Mutation_p.R106Q NM_001130145.2 NP_001123617.1 P46937 YAP1_HUMAN Yes-associated protein 1 106 cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) TCCCACTCCCGACAGGTAACC 0.701000 21 87 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114640424 114640424 + Silent SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr1:114640424G>A ENST00000393296.1 - 6 1517 c.1440C>T c.(1438-1440)aaC>aaT p.N480N SYT6_ENST00000369547.1_Silent_p.N395N Q5T7P8 SYT6_HUMAN synaptotagmin VI 480 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity p.N395K(1) central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAGCATCTCGTTCCAGTGGT 0.572000 51 42 0 0 1 0 0 GPHB5 122876 broad.mit.edu 37 14 63784523 63784523 + RNA SNP A A T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr14:63784523A>T ENST00000539258.1 - 0 97 Q86YW7 GPHB5_HUMAN glycoprotein hormone beta 5 extracellular region hormone activity p.L14P(1) breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) AGCCAGAAGGAGGAGGGCCAT 0.577000 30 55 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90032319 90032319 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr16:90032319G>A ENST00000563594.1 + 13 2301 c.1304G>A c.(1303-1305)aGc>aAc p.S435N DEF8_ENST00000563795.1_Missense_Mutation_p.S418N|DEF8_ENST00000268676.7_Missense_Mutation_p.S496N|DEF8_ENST00000570182.1_Missense_Mutation_p.S425N|DEF8_ENST00000569453.1_Missense_Mutation_p.S435N|DEF8_ENST00000567874.1_Missense_Mutation_p.S375N NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 496 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) GCCCGGCTCAGCCTGAGGAAG 0.652000 15 26 0 0 1 0 0 FAM76B 143684 broad.mit.edu 37 11 95521688 95521688 + Missense_Mutation SNP A A T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr11:95521688A>T ENST00000358780.5 - 2 439 c.127T>A c.(127-129)Tgc>Agc p.C43S FAM76B_ENST00000538047.1_5'UTR|FAM76B_ENST00000536839.1_Missense_Mutation_p.C43S NM_144664.4 NP_653265.3 Q5HYJ3 FA76B_HUMAN family with sequence similarity 76, member B 43 breast(1)|kidney(1)|lung(1) 3 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCTGATCTGCAGTAAGTACAT 0.353000 17 56 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718763 42718763 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr5:42718763G>A ENST00000230882.4 + 10 1344 c.1154G>A c.(1153-1155)gGa>gAa p.G385E GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.G198E|GHR_ENST00000357703.3_Missense_Mutation_p.G363E NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 385 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GGCGACTCTGGACGTACCAGC 0.468000 24 61 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89349566 89349566 + Silent SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr16:89349566G>A ENST00000301030.4 - 9 3844 c.3384C>T c.(3382-3384)gaC>gaT p.D1128D ANKRD11_ENST00000378330.2_Silent_p.D1128D NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1128 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCATGCAGCTGTCTCTGTCGT 0.542000 124 48 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117486782 117486782 + Missense_Mutation SNP A A T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:117486782A>T ENST00000355044.3 + 27 3946 c.3820A>T c.(3820-3822)Atg>Ttg p.M1274L ATRNL1_ENST00000423111.2_Missense_Mutation_p.M325L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.M67L NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1274 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ACGACAGCAGATGGCCAGCCG 0.458000 11 19 0 0 1 0 0 SLC2A11 66035 broad.mit.edu 37 22 24224735 24224735 + Missense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr22:24224735C>T ENST00000345044.6 + 7 1043 c.775C>T c.(775-777)Cgg>Tgg p.R259W SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000398356.2_Missense_Mutation_p.R266W|SLC2A11_ENST00000316185.8_Missense_Mutation_p.R262W|AP000350.10_ENST00000433835.3_Intron Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 259 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 CTGCCGTGCCCGGCGCCCATG 0.697000 11 17 0 0 1 0 0 ZNF671 79891 broad.mit.edu 37 19 58238811 58238811 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr19:58238811G>A ENST00000317398.6 - 1 181 c.86C>T c.(85-87)cCg>cTg p.P29L AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.P29L|ZNF671_ENST00000594803.1_5'UTR NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GACAGCTGCCGGGAGCGGCAG 0.687000 8 21 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42814891 42814891 + Silent SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr19:42814891G>A ENST00000499536.2 + 2 1881 c.1070G>A c.(1069-1071)tGa>tAa p.*357* PRR19_ENST00000341747.3_Silent_p.*357*|PRR19_ENST00000598490.1_3'UTR A6NJB7 PRR19_HUMAN proline rich 19 0 NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) AGACTGTACTGAGGAGAGGCT 0.552000 15 45 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43596020 43596020 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr10:43596020G>A ENST00000355710.3 + 2 419 c.187G>A c.(187-189)Gtg>Atg p.V63M RET_ENST00000340058.5_Missense_Mutation_p.V63M NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 63 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CCCTGAGGAGGTGCCCAGCTT 0.627000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 7 26 0 0 1 0 0 ABCB6 10058 broad.mit.edu 37 2 220082999 220082999 + Silent SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr2:220082999G>T ENST00000265316.3 - 1 713 c.397C>A c.(397-399)Cgg>Agg p.R133R ABCB6_ENST00000439002.2_Silent_p.R133R NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 133 cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGACGCTGCCGTGCCTGGCTC 0.642000 72 58 7.46257e-40 9.75036e-40 1 1 0 BIVM-ERCC5 100533467 broad.mit.edu 37 13 103504604 103504604 + Missense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr13:103504604G>T ENST00000602836.1 + 10 1501 c.1501G>T c.(1501-1503)Gtt>Ttt p.V501F ERCC5_ENST00000355739.4_Silent_p.V75V|ERCC5_ENST00000535557.1_Silent_p.V75V NM_001204425.1 NP_001191354.1 Q59FZ7 Q59FZ7_HUMAN 0 nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding CTATTTTTGTGTTTGATGGGG 0.363000 8 15 1.12685e-05 1.2151e-05 1 1 0 COL28A1 340267 broad.mit.edu 37 7 7413146 7413146 + Silent SNP T T C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr7:7413146T>C ENST00000399429.3 - 32 2531 c.2391A>G c.(2389-2391)ctA>ctG p.L797L NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 797 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) ACACCAGCTCTAGTGGAGTCT 0.458000 29 51 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48164423 48164423 + Missense_Mutation SNP T T C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr20:48164423T>C ENST00000244043.4 - 3 361 c.332A>G c.(331-333)cAg>cGg p.Q111R PTGIS_ENST00000478971.1_Intron NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 111 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) ATGTGGAAGCTGCACATCAAA 0.567000 106 137 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96418870 96418870 + Silent SNP A A C TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr9:96418870A>C ENST00000359246.4 + 9 1507 c.1140A>C c.(1138-1140)gcA>gcC p.A380A PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 380 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TGCTGGAGGCATTCAAAGGTA 0.582000 31 81 0 0 1 0 0 TTC6 319089 broad.mit.edu 37 14 38273972 38273972 + Silent SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr14:38273972C>T ENST00000553443.1 + 21 4117 c.4117C>T c.(4117-4119)Ctg>Ttg p.L1373L TTC6_ENST00000267368.7_Silent_p.L104L|TTC6_ENST00000476979.1_Silent_p.L104L|TTC6_ENST00000382320.3_Silent_p.L87L tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) AGCAGACTGTCTGTATAACTT 0.378000 71 50 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6730867 6730867 + Missense_Mutation SNP C C T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr7:6730867C>T ENST00000405858.1 - 5 2247 c.1706G>A c.(1705-1707)aGa>aAa p.R569K AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.R531K|ZNF12_ENST00000404360.1_Missense_Mutation_p.R495K NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 569 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TGAATGAATTCTATGATGTAT 0.408000 4 69 0 0 1 0 0 AJUBA 84962 broad.mit.edu 37 14 23444314 23444314 + Splice_Site SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr14:23444314C>A ENST00000262713.2 - 5 1615 c.e5-1 RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site|AJUBA_ENST00000397388.3_Splice_Site NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CTTGTAGGATCTGGCTCATGG 0.517000 12 33 0.00185496 0.00194174 1 1 0 NOL8 55035 broad.mit.edu 37 9 95077738 95077738 + Frame_Shift_Del DEL T T - TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr9:95077738delT ENST00000545558.1 - 7 1661 c.1169delA c.(1168-1170)atfs p.N390fs NOL8_ENST00000535387.1_Frame_Shift_Del_p.N390fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.N322fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.N322fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.N390fs Q76FK4 NOL8_HUMAN nucleolar protein 8 390 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 CTTAGCAACATTTTTTTTCAT 0.323 2 4 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 7 62 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 9 556 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578547 7578547 + Frame_Shift_Del DEL G G - TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr17:7578547delG ENST00000420246.2 - 5 515 c.383delC c.(382-384)ctfs p.P128fs TP53_ENST00000413465.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P128fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P128fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 128 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.Y126fs*18(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTTGAGGGCAGGGGAGTACTG 0.562 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 65 8 --- --- --- --- FOXJ1 2302 broad.mit.edu 37 17 74133646 74133648 + In_Frame_Del DEL GGC GGC - TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr17:74133646_74133648delGGC ENST00000322957.6 - 3 1406_1408 c.1052_1054delGCC c.(1051-1056)cac>c p.RH351del NM_001454.3 NP_001445.2 Q92949 FOXJ1_HUMAN forkhead box J1 351 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) CAGTCGATGTGGCGGCCGTGGAT 0.690 7 3 --- --- --- --- PHLPP1 23239 broad.mit.edu 37 18 60646563 60646565 + In_Frame_Del DEL CAG CAG - TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0de1af31-a4a8-42a2-92d2-c7087873e307 9a1e384d-40e6-4e8b-9290-fb655463b8e8 g.chr18:60646563_60646565delCAG ENST00000400316.4 + 17 5298_5300 c.3517_3519delCAG c.(3517-3519)del p.Q1177del PHLPP1_ENST00000262719.5_In_Frame_Del_p.Q1689del NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1689 PP2C-like. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 ccaggagcaacagcagcagcagc 0.586 2 4 --- --- --- ---