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 ZFHX3 463 broad.mit.edu 37 16 72993190 72993190 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:72993190G>C ENST00000268489.5 - 2 1527 c.855C>G c.(853-855)ttC>ttG p.F285L ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 285 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GTTTGCACAAGAAACACATCA 0.498000 36 80 0 0 0.003271 0 0 EPHB3 2049 broad.mit.edu 37 3 184298946 184298946 + Nonsense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:184298946C>T ENST00000330394.2 + 14 3177 c.2725C>T c.(2725-2727)Cag>Tag p.Q909* EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 909 integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TGCCAGCGCTCAGTCTGGGTT 0.572000 48 127 0 0 0.014410 0 0 LPIN1 23175 broad.mit.edu 37 2 11955216 11955216 + Missense_Mutation SNP A A G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:11955216A>G ENST00000256720.2 + 17 2237 c.2144A>G c.(2143-2145)aAt>aGt p.N715S LPIN1_ENST00000404113.2_Missense_Mutation_p.N216S|LPIN1_ENST00000449576.2_Missense_Mutation_p.N800S|LPIN1_ENST00000425416.2_Missense_Mutation_p.N721S|LPIN1_ENST00000396097.1_Missense_Mutation_p.N445S|LPIN1_ENST00000396099.1_Missense_Mutation_p.N757S NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 715 C-LIP. fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) TCTTTCAGGAATGGATATAAA 0.488000 18 36 0 0 0.006122 0 0 SDHA 6389 broad.mit.edu 37 5 225544 225544 + Missense_Mutation SNP A A G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr5:225544A>G ENST00000264932.6 + 4 438 c.323A>G c.(322-324)aAt>aGt p.N108S SDHA_ENST00000504309.1_Missense_Mutation_p.N108S|SDHA_ENST00000510361.1_Intron NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 108 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) GGAGGAATCAATGCTGCTCTG 0.572000 Familial Paragangliomas 4 181 0 0 0.000602 0 0 TOB2 10766 broad.mit.edu 37 22 41832490 41832490 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr22:41832490C>G ENST00000327492.3 - 2 1566 c.860G>C c.(859-861)gGa>gCa p.G287A NM_016272.3 NP_057356.1 Q14106 TOB2_HUMAN transducer of ERBB2, 2 287 QGSGTPGPFGGSGAGTCNSSSFDMAQVFGGGANSLFLEKT -> RAAAPQARLEAVGLAPATAAALTWPRYLEVVPTASSWR RH (in Ref. 1; BAA10971). female gamete generation|negative regulation of cell proliferation cytoplasm|nucleus cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 CCCACTGCCTCCAAACGGGCC 0.607000 25 24 0 0 0.003954 0 0 HUNK 30811 broad.mit.edu 37 21 33371383 33371383 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr21:33371383G>C ENST00000270112.2 + 11 2391 c.2031G>C c.(2029-2031)caG>caC p.Q677H NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 677 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 AGCGCCATCAGAGTCTGCAGC 0.612000 30 63 0 0 0.006320 0 0 SPATA21 374955 broad.mit.edu 37 1 16757777 16757777 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:16757777C>G ENST00000375577.1 - 2 429 c.90G>C c.(88-90)aaG>aaC p.K30N SPATA21_ENST00000335496.1_Intron|SPATA21_ENST00000540400.1_Intron|SPATA21_ENST00000466212.1_5'UTR Q7Z572 SPT21_HUMAN spermatogenesis associated 21 31 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) CACCAGCCCTCTTTATGGTGA 0.562000 16 22 0 0 0.004007 0 0 FTO 79068 broad.mit.edu 37 16 53844097 53844097 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:53844097C>G ENST00000471389.1 + 2 313 c.91C>G c.(91-93)Ctg>Gtg p.L31V FTO_ENST00000394647.3_5'UTR NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 31 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GCTCCCTTATCTGACCCCCAA 0.343000 21 43 0 0 0.010504 0 0 ZNF106 64397 broad.mit.edu 37 15 42743338 42743338 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:42743338G>C ENST00000263805.4 - 2 1389 c.1063C>G c.(1063-1065)Cag>Gag p.Q355E ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 AGAGTCTTCTGAGAAGGGTAA 0.448000 49 60 0 0 0.014410 0 0 GALNTL5 168391 broad.mit.edu 37 7 151711769 151711769 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:151711769C>G ENST00000392800.2 + 8 1321 c.1067C>G c.(1066-1068)tCt>tGt p.S356C GALNTL5_ENST00000431418.2_Missense_Mutation_p.S356C NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 356 Catalytic subdomain B. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) ATCCCCTGCTCTCGAGTAGGA 0.413000 34 52 0 0 0.013726 0 0 SLC34A2 10568 broad.mit.edu 37 4 25671434 25671434 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr4:25671434C>T ENST00000382051.3 + 7 851 c.801C>T c.(799-801)atC>atT p.I267I SLC34A2_ENST00000504570.1_Silent_p.I266I|SLC34A2_ENST00000503434.1_Silent_p.I266I NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 267 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TGAAAGTCATCACTAAGCCCT 0.483000 T ROS1 NSCLC 74 41 0 0 0.014410 0 0 MOB1B 92597 broad.mit.edu 37 4 71835700 71835700 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr4:71835700C>T ENST00000309395.2 + 3 435 c.234C>T c.(232-234)ttC>ttT p.F78F MOB1B_ENST00000396051.2_Silent_p.F83F|MOB1B_ENST00000511449.1_3'UTR NM_001244766.1|NM_173468.3 NP_001231695.1|NP_775739.1 Q7L9L4 MOL1A_HUMAN MOB kinase activator 1B 78 hippo signaling cascade|protein autophosphorylation cytoplasm|nucleus kinase activator activity|kinase binding|metal ion binding TCACAGACTTCTGTACAGAAG 0.338000 3 29 0 0 0.004672 0 0 NRN1L 123904 broad.mit.edu 37 16 67920047 67920047 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:67920047C>G ENST00000339176.3 + 3 482 c.383C>G c.(382-384)tCc>tGc p.S128C CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_Missense_Mutation_p.P55A NM_198443.1 NP_940845.1 Q496H8 NRN1L_HUMAN neuritin 1-like 128 anchored to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) GGCACAGGCTCCGAAACCAAC 0.667000 4 17 0 0 0.001168 0 0 KCNH2 3757 broad.mit.edu 37 7 150648119 150648119 + Missense_Mutation SNP G G A rs79624542 TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:150648119G>A ENST00000392968.2 - 6 2867 c.1747C>T c.(1747-1749)Cgg>Tgg p.R583W KCNH2_ENST00000262186.5_Missense_Mutation_p.R679W|KCNH2_ENST00000330883.4_Missense_Mutation_p.R339W|KCNH2_ENST00000430723.3_Missense_Mutation_p.R679W Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 679 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TCCCGCACCCGCAGCATCTGT 0.632000 27 32 0 0 0.006320 0 0 LOC220729 220729 broad.mit.edu 37 3 197349060 197349060 + RNA SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:197349060C>T ENST00000418868.1 - 0 517 NR_003266.2 CCCATCACCTCGACCATGGCA 0.582000 29 32 0 0 0.003755 0 0 PARP10 84875 broad.mit.edu 37 8 145052088 145052088 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:145052088G>C ENST00000313028.7 - 10 2812 c.2718C>G c.(2716-2718)ttC>ttG p.F906L PARP10_ENST00000524918.1_Missense_Mutation_p.F897L|PARP10_ENST00000525773.1_Missense_Mutation_p.F918L NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 906 Myc binding.|PARP catalytic. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGCGGCCGCAGAAGCTGCGGT 0.721000 7 38 0 0 0.003080 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 4 239 0 0 0.009096 0 0 NDUFV3 4731 broad.mit.edu 37 21 44324239 44324239 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr21:44324239G>C ENST00000354250.2 + 3 1186 c.1117G>C c.(1117-1119)Gat>Cat p.D373H NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 0 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) AATCGTGGAAGATCAGATACC 0.572000 21 36 0 0 0.003330 0 0 PTPMT1 114971 broad.mit.edu 37 11 47587500 47587500 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:47587500G>C ENST00000534775.1 + 1 491 c.326G>C c.(325-327)cGa>cCa p.R109P PTPMT1_ENST00000326674.9_Missense_Mutation_p.E73Q|PTPMT1_ENST00000426530.2_Missense_Mutation_p.R109P|PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.E73Q Q8WUK0 PTPM1_HUMAN protein tyrosine phosphatase, mitochondrial 1 0 Tyrosine-protein phosphatase. inositol phosphate dephosphorylation mitochondrial inner membrane phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 6 CACCATGAACGAGGAGTACGA 0.677000 14 58 0 0 0.004990 0 0 PRX 57716 broad.mit.edu 37 19 40902497 40902497 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:40902497G>C ENST00000324001.7 - 7 2032 c.1762C>G c.(1762-1764)Cca>Gca p.P588A PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 588 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCACCTTTGGAAGCTTCATC 0.567000 90 198 0 0 0.014410 0 0 NUFIP2 57532 broad.mit.edu 37 17 27613310 27613310 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:27613310C>G ENST00000225388.4 - 2 1760 c.1702G>C c.(1702-1704)Gag>Cag p.E568Q NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 568 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) GTCCGTTTCTCCAGCTCGTAA 0.463000 12 84 0 0 0.013537 0 0 LRIG1 26018 broad.mit.edu 37 3 66432706 66432706 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:66432706C>G ENST00000383703.3 - 17 3142 c.2539G>C c.(2539-2541)Gag>Cag p.E847Q SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.E870Q Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 870 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CCATTGCTCTCAATGTGCCCA 0.567000 56 38 0 0 0.014410 0 0 ANK3 288 broad.mit.edu 37 10 61822996 61822996 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr10:61822996C>T ENST00000280772.1 - 40 12659 c.12468G>A c.(12466-12468)tcG>tcA p.S4156S ANK3_ENST00000373827.2_Silent_p.S1537S|ANK3_ENST00000355288.2_Silent_p.S677S|ANK3_ENST00000503366.1_Silent_p.S1544S NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4156 Death. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTGTCAAGACCGAAGTTAAGG 0.348000 12 15 0 0 0.001855 0 0 S100A4 6275 broad.mit.edu 37 1 153516241 153516241 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:153516241C>G ENST00000368716.4 - 3 447 c.300G>C c.(298-300)aaG>aaC p.K100N S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368714.1_Missense_Mutation_p.K100N|S100A4_ENST00000368715.1_Missense_Mutation_p.K100N|S100A4_ENST00000354332.4_Missense_Mutation_p.K100N NM_002961.2 NP_002952.1 P26447 S10A4_HUMAN S100 calcium binding protein A4 100 epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus|perinuclear region of cytoplasm calcium ion binding|RAGE receptor binding large_intestine(2)|lung(1)|prostate(1) 4 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GTTTTCATTTCTTCCTGGGCT 0.527000 85 274 0 0 0.014410 0 0 GCC2 9648 broad.mit.edu 37 2 109103017 109103017 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:109103017G>A ENST00000309863.6 + 16 4557 c.3843G>A c.(3841-3843)ctG>ctA p.L1281L NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1281 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACGAGCACCTGAAAACCTCTG 0.473000 50 79 0 0 0.014410 0 0 ZHX3 23051 broad.mit.edu 37 20 39831571 39831571 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr20:39831571C>G ENST00000309060.3 - 4 2401 c.1986G>C c.(1984-1986)gaG>gaC p.E662D ZHX3_ENST00000540170.1_Missense_Mutation_p.E662D|ZHX3_ENST00000432768.2_Missense_Mutation_p.E662D|ZHX3_ENST00000560361.1_Missense_Mutation_p.E662D|ZHX3_ENST00000559234.1_Missense_Mutation_p.E662D|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.E662D Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 662 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) TTTTCCGTCTCTCTGAAAACC 0.493000 103 182 0 0 0.014410 0 0 ARPC1B 10095 broad.mit.edu 37 7 98988657 98988657 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:98988657G>A ENST00000451682.1 + 8 951 c.642G>A c.(640-642)ggG>ggA p.G214G ARPC1B_ENST00000252725.5_Silent_p.G214G O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 214 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CAGCCAGCGGGAGCCGCGTGG 0.632000 16 47 0 0 0.004007 0 0 CAPN12 147968 broad.mit.edu 37 19 39234625 39234625 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:39234625C>T ENST00000328867.4 - 1 489 c.181G>A c.(181-183)Gac>Aac p.D61N CAPN12_ENST00000601953.1_Intron NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 61 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) CCCAGCTGGTCATAGCCAAGG 0.627000 22 36 0 0 0.012319 0 0 WDR35 57539 broad.mit.edu 37 2 20113939 20113939 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:20113939G>A ENST00000345530.3 - 27 3369 c.3254C>T c.(3253-3255)tCa>tTa p.S1085L WDR35_ENST00000281405.4_Missense_Mutation_p.S1074L|WDR35_ENST00000416055.2_Intron NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 1085 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAAGCTTTTGAACAAGTCCC 0.433000 30 53 0 0 0.009535 0 0 TTC30A 92104 broad.mit.edu 37 2 178482268 178482268 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:178482268C>G ENST00000355689.4 - 1 1426 c.1162G>C c.(1162-1164)Gag>Cag p.E388Q AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 388 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) CGAAGCTGCTCAGTCAGCATC 0.463000 99 122 0 0 0.014410 0 0 HSD17B4 3295 broad.mit.edu 37 5 118865666 118865666 + Silent SNP A A C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr5:118865666A>C ENST00000504811.1 + 22 2104 c.1920A>C c.(1918-1920)acA>acC p.T640T HSD17B4_ENST00000509514.1_Silent_p.T353T|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000414835.2_Silent_p.T475T|HSD17B4_ENST00000515320.1_Silent_p.T597T|HSD17B4_ENST00000256216.6_Silent_p.T615T|HSD17B4_ENST00000510025.1_Silent_p.T591T|HSD17B4_ENST00000513628.1_Silent_p.T478T NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 615 SCP2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) CAGCTAAGACACCCTCTGAGG 0.378000 5 65 0 0 0.010729 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356015 40356015 + Silent SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr4:40356015G>C ENST00000310169.2 + 5 1057 c.918G>C c.(916-918)acG>acC p.T306T NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 306 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) ACATAGCCACGATGGCCCTGA 0.502000 56 216 0 0 0.014410 0 0 KYNU 8942 broad.mit.edu 37 2 143797996 143797996 + Splice_Site SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:143797996G>A ENST00000264170.4 + 13 1299 c.e13-1 KYNU_ENST00000409512.1_Splice_Site NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TCATTCCACAGATCTTTAAGC 0.333000 21 50 0 0 0.004656 0 0 ZNF836 162962 broad.mit.edu 37 19 52659059 52659059 + Nonsense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:52659059G>C ENST00000322146.8 - 5 2398 c.1877C>G c.(1876-1878)tCa>tGa p.S626* CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Nonsense_Mutation_p.S626* NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CTTATGATTTGAAAGGTTTCC 0.408000 77 141 0 0 0.014410 0 0 EPHB3 2049 broad.mit.edu 37 3 184295229 184295229 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:184295229G>C ENST00000330394.2 + 6 1905 c.1453G>C c.(1453-1455)Gac>Cac p.D485H EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 485 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) AGTCATCCTGGACTACGAGAT 0.602000 3 130 0 0 0.004672 0 0 SYNE2 23224 broad.mit.edu 37 14 64476717 64476717 + Missense_Mutation SNP A A T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr14:64476717A>T ENST00000358025.3 + 32 4841 c.4611A>T c.(4609-4611)ttA>ttT p.L1537F SYNE2_ENST00000344113.4_Missense_Mutation_p.L1537F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1537F|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1537 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGGAGCTCTTAAAACAATATC 0.353000 18 32 0 0 0.008871 0 0 ARMC4 55130 broad.mit.edu 37 10 28151401 28151401 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr10:28151401G>A ENST00000305242.5 - 18 2853 c.2761C>T c.(2761-2763)Cat>Tat p.H921Y ARMC4_ENST00000545014.1_Missense_Mutation_p.H446Y|ARMC4_ENST00000537576.1_Missense_Mutation_p.H613Y NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 921 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ACAACTCCATGATCTGTGATA 0.348000 50 90 0 0 0.014410 0 0 SRSF6 6431 broad.mit.edu 37 20 42086714 42086714 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr20:42086714G>C ENST00000244020.3 + 1 147 c.41G>C c.(40-42)cGg>cCg p.R14P NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 14 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 TACAACGTCCGGGAGAAGGAC 0.647000 27 39 0 0 0.007291 0 0 ESRP1 54845 broad.mit.edu 37 8 95653588 95653588 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:95653588C>T ENST00000433389.2 + 1 232 c.42C>T c.(40-42)atC>atT p.I14I ESRP1_ENST00000423620.2_Silent_p.I14I|ESRP1_ENST00000358397.5_Silent_p.I14I|ESRP1_ENST00000454170.2_Silent_p.I14I NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 14 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 TTTTTGGGATCACTGCTGGGG 0.587000 10 88 0 0 0.006214 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871400 51871400 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr20:51871400G>C ENST00000371497.5 + 2 2290 c.1403G>C c.(1402-1404)aGg>aCg p.R468T TSHZ2_ENST00000603338.2_Missense_Mutation_p.R465T|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R465T NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 468 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AAAAAAGAAAGGCCAGAGGAA 0.423000 56 96 0 0 0.014410 0 0 DHX16 8449 broad.mit.edu 37 6 30624384 30624384 + Silent SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:30624384G>C ENST00000376442.3 - 14 2496 c.2301C>G c.(2299-2301)ctC>ctG p.L767L DHX16_ENST00000376437.5_Silent_p.L286L NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 767 Helicase C-terminal. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 CTAAGCTCTTGAGCAGCAACA 0.557000 73 102 0 0 0.014410 0 0 DCBLD2 131566 broad.mit.edu 37 3 98518387 98518387 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:98518387G>A ENST00000326840.6 - 16 2519 c.2157C>T c.(2155-2157)ctC>ctT p.L719L DCBLD2_ENST00000326857.9_Silent_p.L733L NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 719 cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 CAGTCCTGGAGAGAAGTGTAT 0.572000 67 253 0 0 0.014410 0 0 SHPK 23729 broad.mit.edu 37 17 3495440 3495440 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:3495440C>G ENST00000572705.1 - 3 479 c.205G>C c.(205-207)Gag>Cag p.E69Q TRPV1_ENST00000399759.3_Missense_Mutation_p.E69Q|TRPV1_ENST00000425167.2_Missense_Mutation_p.E69Q|TRPV1_ENST00000576351.1_Missense_Mutation_p.E69Q|TRPV1_ENST00000174621.6_Silent_p.V43V|TRPV1_ENST00000399756.4_Missense_Mutation_p.E69Q|TRPV1_ENST00000571088.1_Missense_Mutation_p.E69Q|TRPV1_ENST00000310522.5_Missense_Mutation_p.E69Q NM_080704.3 NP_542435.2 Q9UHJ6 SHPK_HUMAN sedoheptulokinase 0 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 COAD - Colon adenocarcinoma(5;0.0828) GAGTCCAGCTCACCTTCCTCG 0.652000 13 25 0 0 0.002450 0 0 SEC24A 10802 broad.mit.edu 37 5 134060674 134060674 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr5:134060674G>A ENST00000398844.2 + 23 3460 c.3172G>A c.(3172-3174)Gag>Aag p.E1058K NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 1058 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTAAGGGATGAGAGTCCAAT 0.318000 23 43 0 0 0.002780 0 0 ADGRG6 57211 broad.mit.edu 37 6 142689043 142689043 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:142689043C>G ENST00000230173.6 + 3 917 c.441C>G c.(439-441)atC>atG p.I147M GPR126_ENST00000367608.2_Missense_Mutation_p.I147M|GPR126_ENST00000367609.3_Missense_Mutation_p.I147M|GPR126_ENST00000296932.8_Missense_Mutation_p.I147M|GPR126_ENST00000545477.1_3'UTR NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 147 CUB. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CCAGCTACATCAGAGGTATGT 0.408000 17 33 0 0 0.008871 0 0 FAM46C 54855 broad.mit.edu 37 1 118165574 118165574 + Silent SNP C C A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:118165574C>A ENST00000369448.3 + 2 331 c.84C>A c.(82-84)gtC>gtA p.V28V NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 28 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) TGCATGAGGTCCTCACTGAAG 0.557000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 14 64 1.49906e-05 1.53612e-05 0.002450 1 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 53 0 0 0.000602 0 0 GRIA2 2891 broad.mit.edu 37 4 158254442 158254442 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr4:158254442G>C ENST00000296526.7 + 8 1417 c.1092G>C c.(1090-1092)caG>caC p.Q364H GRIA2_ENST00000449365.1_Missense_Mutation_p.Q317H|GRIA2_ENST00000393815.2_Missense_Mutation_p.Q317H|GRIA2_ENST00000507898.1_Missense_Mutation_p.Q317H|GRIA2_ENST00000264426.9_Missense_Mutation_p.Q364H NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 364 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AGTTTGACCAGAATGGAAAAA 0.358000 23 19 0 0 0.004656 0 0 CHST13 166012 broad.mit.edu 37 3 126260987 126260987 + Missense_Mutation SNP A A T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:126260987A>T ENST00000319340.2 + 3 642 c.592A>T c.(592-594)Agg>Tgg p.R198W NM_152889.2 NP_690849.1 Q8NET6 CHSTD_HUMAN carbohydrate (chondroitin 4) sulfotransferase 13 198 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) CGCCTTCCAGAGGCGCTACGG 0.726000 9 11 0 0 0.010729 0 0 BCHE 590 broad.mit.edu 37 3 165548470 165548470 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:165548470C>T ENST00000264381.3 - 2 518 c.352G>A c.(352-354)Gaa>Aaa p.E118K BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 118 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AAACAGTCTTCACTGAGGTCA 0.388000 23 64 0 0 0.002780 0 0 IL36B 27177 broad.mit.edu 37 2 113780314 113780314 + Silent SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:113780314G>C ENST00000259213.4 - 6 539 c.432C>G c.(430-432)ctC>ctG p.L144L NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 144 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 CCTTCTTCCTGAGATGGTGAT 0.438000 51 68 0 0 0.014410 0 0 MYBPH 4608 broad.mit.edu 37 1 203144777 203144777 + Nonsense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:203144777G>C ENST00000255416.4 - 1 164 c.107C>G c.(106-108)tCa>tGa p.S36* NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 36 cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) GGTGGACTCTGATACTGCCAC 0.622000 85 218 0 0 0.014410 0 0 NPR1 4881 broad.mit.edu 37 1 153665640 153665640 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:153665640C>G ENST00000368680.3 + 21 3562 c.3090C>G c.(3088-3090)ttC>ttG p.F1030L NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 1030 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TTGGTGGTTTCGAGCTGGAGC 0.552000 41 112 0 0 0.014410 0 0 ZNF318 24149 broad.mit.edu 37 6 43307216 43307216 + Nonsense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:43307216G>C ENST00000361428.2 - 10 4597 c.4520C>G c.(4519-4521)tCa>tGa p.S1507* ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1507 Pro-rich. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TGGCTGTGCTGAGGCCATGAT 0.532000 20 45 0 0 0.010504 0 0 ZFP36 7538 broad.mit.edu 37 19 39898586 39898586 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:39898586C>T ENST00000597629.1 + 2 320 c.246C>T c.(244-246)ttC>ttT p.F82F ZFP36_ENST00000248673.3_Silent_p.F76F|ZFP36_ENST00000594045.1_3'UTR P26651 TTP_HUMAN ZFP36 ring finger protein 76 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCCCTGGCTTCGCACCGCTGG 0.706000 22 33 0 0 0.002780 0 0 EXD3 54932 broad.mit.edu 37 9 140249213 140249213 + Missense_Mutation SNP T T C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr9:140249213T>C ENST00000340951.4 - 9 965 c.770A>G c.(769-771)aAc>aGc p.N257S EXD3_ENST00000342129.4_5'UTR NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 257 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 AATGGCCGCGTTGGGACACAG 0.697000 28 5 0 0 0.013726 0 0 OR52B2 255725 broad.mit.edu 37 11 6191434 6191434 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:6191434G>A ENST00000530810.1 - 1 204 c.123C>T c.(121-123)gtC>gtT p.V41V RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTTTCCCAGGACTGCAGTGA 0.478000 34 17 0 0 0.013726 0 0 SLMAP 7871 broad.mit.edu 37 3 57743444 57743444 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:57743444C>T ENST00000383718.3 + 1 164 c.66C>T c.(64-66)gtC>gtT p.V22V SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Silent_p.V22V|SLMAP_ENST00000449503.2_Silent_p.V22V|SLMAP_ENST00000428312.1_Silent_p.V22V|SLMAP_ENST00000295951.3_Silent_p.V22V Q14BN4 SLMAP_HUMAN sarcolemma associated protein 22 Necessary for targeting to centrosomes (By similarity). muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) AGCGTCATGTCTACCTGGACG 0.572000 26 9 0 0 0.005443 0 0 MMP27 64066 broad.mit.edu 37 11 102562560 102562560 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:102562560C>G ENST00000260229.4 - 10 1570 c.1479G>C c.(1477-1479)aaG>aaC p.K493N NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 493 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) AGCTTAAACTCTTATGATACA 0.299000 32 585 0 0 0.010818 0 0 CSMD2 114784 broad.mit.edu 37 1 34258100 34258100 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:34258100C>G ENST00000373381.4 - 11 1650 c.1474G>C c.(1474-1476)Gat>Cat p.D492H CSMD2_ENST00000338325.1_Missense_Mutation_p.D100H NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 452 CUB 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTCTCCAAATCAAACTCCTCA 0.552000 29 65 0 0 0.009535 0 0 ATP10B 23120 broad.mit.edu 37 5 160071214 160071214 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr5:160071214C>T ENST00000327245.5 - 9 1645 c.799G>A c.(799-801)Gag>Aag p.E267K NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 267 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAAGACTCTCACAGCCAAAG 0.512000 28 54 0 0 0.009535 0 0 LRP6 4040 broad.mit.edu 37 12 12302048 12302048 + Missense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr12:12302048G>T ENST00000261349.4 - 14 3110 c.3034C>A c.(3034-3036)Ctg>Atg p.L1012M LRP6_ENST00000543091.1_Missense_Mutation_p.L1012M NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1012 Beta-propeller 4. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TGTATTTCCAGGTTCTGACTC 0.428000 94 147 1.41219e-46 1.53124e-46 0.014410 1 0 SPG11 80208 broad.mit.edu 37 15 44856881 44856881 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:44856881C>T ENST00000261866.7 - 39 7031 c.7015G>A c.(7015-7017)Gag>Aag p.E2339K SPG11_ENST00000535302.2_Missense_Mutation_p.E2226K|SPG11_ENST00000427534.2_Intron NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 2339 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TCGTAGGCCTCAGCCACAATA 0.373000 27 38 0 0 0.006320 0 0 PIGS 94005 broad.mit.edu 37 17 26897883 26897883 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:26897883C>T ENST00000308360.7 - 3 648 c.273G>A c.(271-273)gaG>gaA p.E91E PIGS_ENST00000395346.2_Silent_p.E83E|PIGS_ENST00000543734.1_Silent_p.E30E NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 91 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) TCAGAGGAATCTCTCTTTCAT 0.562000 5 134 0 0 0.000602 0 0 DCST2 127579 broad.mit.edu 37 1 155002952 155002952 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:155002952C>G ENST00000368424.3 - 6 1033 c.975G>C c.(973-975)ctG>ctC p.L325L DCST2_ENST00000295536.5_Silent_p.L325L NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 325 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGAAGCCCATCAGAGCCAGGG 0.662000 5 69 0 0 0.001168 0 0 USP11 8237 broad.mit.edu 37 X 47098752 47098752 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chrX:47098752G>C ENST00000377107.2 + 3 643 c.289G>C c.(289-291)Gag>Cag p.E97Q USP11_ENST00000218348.3_Missense_Mutation_p.E140Q P51784 UBP11_HUMAN ubiquitin specific peptidase 11 140 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 CCCCACAGATGAGATAAACTG 0.562000 17 5 0 0 0.004990 0 0 MFAP3 4238 broad.mit.edu 37 5 153433244 153433244 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr5:153433244G>C ENST00000436816.1 + 3 1279 c.1060G>C c.(1060-1062)Gat>Cat p.D354H MFAP3_ENST00000439768.2_Missense_Mutation_p.D208H|MFAP3_ENST00000322602.5_Missense_Mutation_p.D354H NM_001242336.1|NM_005927.4 NP_001229265.1|NP_005918.1 P55082 MFAP3_HUMAN microfibrillar-associated protein 3 354 integral to membrane|plasma membrane breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1) 7 Renal(175;0.00488) Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201) TAACTACAAAGATGGGGCATA 0.408000 25 36 0 0 0.006320 0 0 FAHD2B 151313 broad.mit.edu 37 2 97749505 97749505 + Missense_Mutation SNP T T C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:97749505T>C ENST00000414820.1 - 9 1202 c.932A>G c.(931-933)aAc>aGc p.N311S FAHD2B_ENST00000440566.2_Missense_Mutation_p.N311S|FAHD2B_ENST00000272610.3_Missense_Mutation_p.N311S Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 2B 311 hydrolase activity|metal ion binding kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 CACCACCTTGTTGATGATGAC 0.567000 38 88 0 0 0.007835 0 0 ANK1 286 broad.mit.edu 37 8 41545690 41545690 + Silent SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:41545690G>C ENST00000396942.1 - 35 4325 c.4242C>G c.(4240-4242)ctC>ctG p.L1414L ANK1_ENST00000396945.1_Silent_p.L1414L|ANK1_ENST00000289734.7_Silent_p.L1414L|ANK1_ENST00000379758.2_Silent_p.L1414L|ANK1_ENST00000265709.8_Silent_p.L1455L|ANK1_ENST00000347528.4_Silent_p.L1414L|ANK1_ENST00000352337.4_Silent_p.L1414L P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1414 55 kDa regulatory domain.|Death. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) AGCTGAGACCGAGGTGCTCTG 0.512000 76 43 0 0 0.014410 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41447266 41447266 + RNA SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:41447266C>G ENST00000599198.1 + 0 765 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TTTACAAAAACCTACAGGAAA 0.527000 18 144 0 0 0.006122 0 0 DNAH2 146754 broad.mit.edu 37 17 7623114 7623114 + Nonsense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:7623114G>A ENST00000572933.1 + 2 1522 c.62G>A c.(61-63)tGg>tAg p.W21* DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W21*|DNAH2_ENST00000082259.3_Nonsense_Mutation_p.W21*|DNAH2_ENST00000570791.1_Nonsense_Mutation_p.W21* Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 21 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CAGGCAAGCTGGTCAGGGCGG 0.617000 18 24 0 0 0.010504 0 0 NYAP1 222950 broad.mit.edu 37 7 100087172 100087172 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:100087172G>A ENST00000423930.1 + 4 1987 c.1828G>A c.(1828-1830)Gcc>Acc p.A610T NYAP1_ENST00000454988.1_Missense_Mutation_p.A553T|NYAP1_ENST00000300179.2_Missense_Mutation_p.A610T Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 610 CCACGTCATCGCCAGCGCAGG 0.637000 35 95 0 0 0.004878 0 0 ZNF284 342909 broad.mit.edu 37 19 44591044 44591044 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:44591044G>C ENST00000421176.3 + 5 1629 c.1413G>C c.(1411-1413)ttG>ttC p.L471F ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) CAGGTATTTTGAGACATAAGA 0.413000 33 37 0 0 0.013726 0 0 MAP3K7 6885 broad.mit.edu 37 6 91228236 91228236 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:91228236C>G ENST00000369329.3 - 16 1731 c.1570G>C c.(1570-1572)Gaa>Caa p.E524Q MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369320.1_Missense_Mutation_p.E178Q|MAP3K7_ENST00000369325.3_Intron|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E497Q|MAP3K7_ENST00000369327.3_Intron NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 524 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding p.E497Q(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CAATGCTGTTCAAACACTGCC 0.289000 11 24 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179392320 179392320 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:179392320C>T ENST00000589042.1 - 362 107757 c.107533G>A c.(107533-107535)Gag>Aag p.E35845K TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26905K|TTN_ENST00000342992.6_Missense_Mutation_p.E33277K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26972K|TTN_ENST00000460472.2_Missense_Mutation_p.E26780K|TTN_ENST00000591111.1_Missense_Mutation_p.E34204K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 34204 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTTCATCTCAGTCATGCTG 0.478000 36 35 0 0 0.003271 0 0 SF1 7536 broad.mit.edu 37 11 64534668 64534668 + Missense_Mutation SNP T T C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:64534668T>C ENST00000377394.3 - 11 1756 c.1402A>G c.(1402-1404)Aaa>Gaa p.K468E SF1_ENST00000422298.2_Silent_p.G351G|SF1_ENST00000377387.1_Silent_p.G591G|SF1_ENST00000227503.9_Silent_p.G466G|SF1_ENST00000334944.5_Silent_p.G466G|SF1_ENST00000377390.3_Silent_p.G466G|SF1_ENST00000433274.2_Silent_p.G440G NM_201997.2 NP_973726.2 Q15637 SF01_HUMAN splicing factor 1 0 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 CATTACCTTTTCCTTGATGCA 0.562000 40 61 0 0 0.011902 0 0 TOE1 114034 broad.mit.edu 37 1 45808853 45808853 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:45808853C>T ENST00000372090.5 + 8 1595 c.1012C>T c.(1012-1014)Cgg>Tgg p.R338W TOE1_ENST00000539779.1_Missense_Mutation_p.R258W|TOE1_ENST00000495703.1_3'UTR NM_025077.3 NP_079353.3 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 338 nuclear speck|nucleolus nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 11 Acute lymphoblastic leukemia(166;0.155) CAAGCGGCGACGGCGACGACG 0.567000 81 129 0 0 0.014410 0 0 ANKRD11 29123 broad.mit.edu 37 16 89349254 89349254 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:89349254C>G ENST00000301030.4 - 9 4156 c.3696G>C c.(3694-3696)aaG>aaC p.K1232N ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1232N NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1232 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) GTTTATTTTTCTTATCTTGCG 0.443000 58 57 0 0 0.014410 0 0 FNDC3B 64778 broad.mit.edu 37 3 172070742 172070742 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:172070742G>A ENST00000336824.4 + 22 2763 c.2664G>A c.(2662-2664)ctG>ctA p.L888L FNDC3B_ENST00000415807.2_Silent_p.L888L|FNDC3B_ENST00000416957.1_Silent_p.L888L NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 888 Fibronectin type-III 7. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GCCTTGTACTGAACTGGGAAG 0.542000 31 95 0 0 0.004289 0 0 ANKRD11 29123 broad.mit.edu 37 16 89349405 89349405 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:89349405C>T ENST00000301030.4 - 9 4005 c.3545G>A c.(3544-3546)aGa>aAa p.R1182K ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1182K NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1182 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) TCTCCTGTCTCTGGGCTCCTT 0.542000 58 79 0 0 0.014410 0 0 VIPR2 7434 broad.mit.edu 37 7 158823439 158823439 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:158823439C>G ENST00000262178.2 - 13 1370 c.1185G>C c.(1183-1185)ccG>ccC p.P395P VIPR2_ENST00000377633.3_Silent_p.P379P|VIPR2_ENST00000402066.1_Silent_p.P536P NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 395 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CGGACGGGGTCGGGCACCGGC 0.706000 4 7 0 0 0.009096 0 0 BAIAP3 8938 broad.mit.edu 37 16 1388988 1388988 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:1388988G>C ENST00000324385.5 + 3 480 c.322G>C c.(322-324)Gag>Cag p.E108Q BAIAP3_ENST00000421665.2_Missense_Mutation_p.E73Q|BAIAP3_ENST00000397489.1_Missense_Mutation_p.E73Q|BAIAP3_ENST00000426824.3_Missense_Mutation_p.E73Q|BAIAP3_ENST00000397488.2_Missense_Mutation_p.E73Q|BAIAP3_ENST00000562208.1_Missense_Mutation_p.E73Q|BAIAP3_ENST00000568887.1_Missense_Mutation_p.E73Q NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 108 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) GCCGTGCCTCGAGGTAAGGGT 0.667000 40 66 0 0 0.006230 0 0 TSKS 60385 broad.mit.edu 37 19 50247585 50247585 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:50247585C>G ENST00000246801.3 - 8 1346 c.1264G>C c.(1264-1266)Gag>Cag p.E422Q TSKS_ENST00000358830.3_Missense_Mutation_p.E222Q NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 422 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCGAACTCCTCCAGAATGGGT 0.597000 32 52 0 0 0.012213 0 0 EML5 161436 broad.mit.edu 37 14 89131807 89131807 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr14:89131807C>T ENST00000554922.1 - 22 3399 c.3151G>A c.(3151-3153)Gat>Aat p.D1051N EML5_ENST00000380664.5_Missense_Mutation_p.D1051N|EML5_ENST00000352093.5_Missense_Mutation_p.D1013N NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1051 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GCTTTACCATCAGGAGAAAAA 0.413000 33 57 0 0 0.005524 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26666552 26666552 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:26666552C>T ENST00000226225.2 + 2 272 c.5C>T c.(4-6)tCg>tTg p.S2L TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_Intron NM_021137.4 NP_066960.1 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) 2 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CGGGAGATGTCGGGGGACACC 0.637000 17 31 0 0 0.004990 0 0 MED1 5469 broad.mit.edu 37 17 37564043 37564043 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:37564043C>T ENST00000300651.6 - 17 4654 c.4431G>A c.(4429-4431)caG>caA p.Q1477Q MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1477 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TGGGACTATTCTGATAAGATT 0.453000 HNSCC(31;0.082) 27 95 0 0 0.006320 0 0 HHIPL2 79802 broad.mit.edu 37 1 222721362 222721362 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:222721362G>C ENST00000343410.6 - 1 83 c.25C>G c.(25-27)Ctg>Gtg p.L9V NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 9 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CCACCACACAGATTAGGAGTG 0.582000 23 47 0 0 0.004656 0 0 AUTS2 26053 broad.mit.edu 37 7 70227855 70227855 + Splice_Site SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:70227855G>T ENST00000342771.4 + 7 1063 c.e7-1 AUTS2_ENST00000406775.2_Splice_Site NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 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) CTCCCATGCAGATCCGGAGTT 0.522000 44 225 2.24722e-20 2.40866e-20 0.014410 1 0 OR1B1 347169 broad.mit.edu 37 9 125391590 125391590 + Silent SNP T T G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr9:125391590T>G ENST00000304833.3 - 1 262 c.225A>C c.(223-225)ctA>ctC p.L75L RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA NM_001004450.1 NP_001004450.1 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, member 1 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 TAACTGTGGATAGCCCCATGT 0.522000 48 10 0 0 0.014410 0 0 KRT39 390792 broad.mit.edu 37 17 39118663 39118663 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:39118663G>C ENST00000355612.2 - 4 896 c.861C>G c.(859-861)ttC>ttG p.F287L AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 287 Coil 2.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) CCTGCGTGTTGAACCACTGTT 0.433000 243 2862 0 0 0.014410 0 0 IRAK3 11213 broad.mit.edu 37 12 66603284 66603284 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr12:66603284C>T ENST00000261233.4 + 3 786 c.365C>T c.(364-366)cCa>cTa p.P122L IRAK3_ENST00000457197.2_Missense_Mutation_p.P61L NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 122 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) GGTGGATTTCCAAATATATTA 0.353000 21 53 0 0 0.014323 0 0 HS3ST6 64711 broad.mit.edu 37 16 1961639 1961639 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:1961639G>A ENST00000454677.2 - 2 1097 c.1032C>T c.(1030-1032)ttC>ttT p.F344F HS3ST6_ENST00000293937.3_Silent_p.F327F|HS3ST6_ENST00000443547.1_Silent_p.F296F C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 296 endometrium(2)|lung(2) 4 ACCTGCGGTTGAAGGGCCGGT 0.701000 9 5 0 0 0.004482 0 0 ELOVL5 60481 broad.mit.edu 37 6 53138060 53138060 + Silent SNP A A G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:53138060A>G ENST00000542638.1 - 6 1026 c.579T>C c.(577-579)cgT>cgC p.R193R ELOVL5_ENST00000304434.6_Silent_p.R193R|ELOVL5_ENST00000370918.4_Silent_p.R183R|ELOVL5_ENST00000541407.1_Silent_p.R220R Q9NYP7 ELOV5_HUMAN ELOVL fatty acid elongase 5 193 YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) AGAGGTATGGACGCATGGAAG 0.502000 3 119 0 0 0.009096 0 0 PPP2R3B 28227 broad.mit.edu 37 X 299609 299609 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chrX:299609C>G ENST00000390665.3 - 11 1392 c.1374G>C c.(1372-1374)ctG>ctC p.L458L NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 458 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCAGCGCTTCAGGTCCTGCA 0.622000 26 111 0 0 0.007291 0 0 SGIP1 84251 broad.mit.edu 37 1 67109271 67109271 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:67109271G>A ENST00000371037.4 + 7 405 c.328G>A c.(328-330)Gaa>Aaa p.E110K SGIP1_ENST00000371035.3_Missense_Mutation_p.E67K|SGIP1_ENST00000371039.1_Missense_Mutation_p.E86K|SGIP1_ENST00000237247.6_Missense_Mutation_p.E114K|SGIP1_ENST00000371036.3_Missense_Mutation_p.E85K|SGIP1_ENST00000468286.1_3'UTR NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 110 Poly-Glu. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 ATCGGAAGAAGAAGAAGAATC 0.343000 22 39 0 0 0.012319 0 0 RASGRP2 10235 broad.mit.edu 37 11 64507521 64507521 + Silent SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:64507521G>T ENST00000377494.1 - 5 1408 c.486C>A c.(484-486)ctC>ctA p.L162L RASGRP2_ENST00000377497.3_Silent_p.L162L|RASGRP2_ENST00000354024.3_Silent_p.L162L|RASGRP2_ENST00000394432.3_Silent_p.L162L Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 162 Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCAAGTAGGTGAGATGCTCCG 0.607000 12 82 5.16669e-11 5.45942e-11 0.010729 1 0 CEP250 11190 broad.mit.edu 37 20 34091370 34091370 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr20:34091370G>C ENST00000397527.1 + 30 5893 c.5173G>C c.(5173-5175)Gag>Cag p.E1725Q CEP250_ENST00000342580.4_Missense_Mutation_p.E1669Q NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1725 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CGGGAGCCTAGAGCACATGAA 0.577000 56 92 0 0 0.014410 0 0 PDS5A 23244 broad.mit.edu 37 4 39929692 39929692 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr4:39929692G>A ENST00000303538.8 - 3 770 c.231C>T c.(229-231)ttC>ttT p.F77F PDS5A_ENST00000503396.1_Silent_p.F77F NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 77 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 TCCTGAGGAAGAATTCAGATG 0.423000 35 33 0 0 0.003755 0 0 PAIP1 10605 broad.mit.edu 37 5 43539098 43539098 + Silent SNP T T C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr5:43539098T>C ENST00000306846.3 - 5 1006 c.774A>G c.(772-774)aaA>aaG p.K258K PAIP1_ENST00000338972.4_Silent_p.K146K|PAIP1_ENST00000514514.1_Silent_p.K179K|PAIP1_ENST00000436644.2_Silent_p.K179K NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 258 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) CTTCATCCCCTTTTGCAGCTT 0.323000 3 171 0 0 0.009096 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62917013 62917013 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chrX:62917013G>C ENST00000253401.6 - 4 1353 c.553C>G c.(553-555)Cta>Gta p.L185V ARHGEF9_ENST00000374870.4_Missense_Mutation_p.L83V|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L183V|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.L132V|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L164V NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 185 DH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 ACGTGCTCTAGGAAGCAGGGT 0.458000 16 2 0 0 0.004990 0 0 MFSD12 126321 broad.mit.edu 37 19 3542796 3542796 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:3542796C>G ENST00000398558.4 - 10 1599 c.1600G>C c.(1600-1602)Gac>Cac p.D534H C19orf71_ENST00000329493.5_Intron|MFSD12_ENST00000389395.3_Intron NM_021731.2 NP_068377.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 0 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 GTCCCCCAGTCTTCCCTGGGC 0.612000 11 19 0 0 0.008291 0 0 CEP250 11190 broad.mit.edu 37 20 34090860 34090860 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr20:34090860C>G ENST00000397527.1 + 30 5383 c.4663C>G c.(4663-4665)Ctg>Gtg p.L1555V CEP250_ENST00000342580.4_Missense_Mutation_p.L1499V NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1555 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GTTGGTTACTCTGGAATGCCT 0.498000 27 82 0 0 0.013726 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070139 141070139 + RNA SNP C C T rs143443709 by1000genomes TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr9:141070139C>T ENST00000503395.1 + 0 1219 p.L85F(2) CGGGCAGGTCCTCAGGCCAGA 0.667000 7 118 0 0 0.004482 0 0 MAP3K19 80122 broad.mit.edu 37 2 135744048 135744048 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:135744048C>G ENST00000375845.3 - 7 2424 c.2394G>C c.(2392-2394)caG>caC p.Q798H MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q685H|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q815H|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GGAATTCATTCTGTTTCATGG 0.393000 21 70 0 0 0.014323 0 0 OR1A2 26189 broad.mit.edu 37 17 3101343 3101343 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:3101343C>T ENST00000381951.1 + 1 531 c.531C>T c.(529-531)ttC>ttT p.F177F NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 TAGCCAATTTCTACTGTGACA 0.473000 57 93 0 0 0.014410 0 0 KIAA0100 9703 broad.mit.edu 37 17 26965349 26965349 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:26965349G>A ENST00000528896.2 - 13 1507 c.1433C>T c.(1432-1434)tCc>tTc p.S478F KIAA0100_ENST00000389003.3_Missense_Mutation_p.S335F|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S335F NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 478 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CTGAATGTGGGAGTCACTGCC 0.562000 28 42 0 0 0.006320 0 0 ZNF211 10520 broad.mit.edu 37 19 58146057 58146057 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:58146057G>C ENST00000544273.1 + 4 514 c.187G>C c.(187-189)Gat>Cat p.D63H ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000347302.3_Missense_Mutation_p.D51H|ZNF211_ENST00000240731.4_Missense_Mutation_p.D64H|ZNF211_ENST00000254182.7_5'UTR|ZNF211_ENST00000420680.1_Missense_Mutation_p.D55H|ZNF211_ENST00000541801.1_5'UTR|ZNF211_ENST00000299871.5_Missense_Mutation_p.D64H Q13398 ZN211_HUMAN zinc finger protein 211 51 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGATCTCCTTGATGAGGCTCA 0.498000 4 127 0 0 0.000602 0 0 RLF 6018 broad.mit.edu 37 1 40627251 40627251 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:40627251G>A ENST00000372771.4 + 1 207 c.180G>A c.(178-180)ctG>ctA p.L60L NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 60 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AGACAGAGCTGAGGGAGCAAG 0.657000 32 43 0 0 0.005524 0 0 BIRC2 329 broad.mit.edu 37 11 102233700 102233700 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:102233700G>C ENST00000227758.2 + 4 2468 c.1069G>C c.(1069-1071)Gaa>Caa p.E357Q BIRC2_ENST00000532672.1_Missense_Mutation_p.E336Q|BIRC2_ENST00000530675.1_Missense_Mutation_p.E308Q|BIRC2_ENST00000527910.1_3'UTR NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 357 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) TCATCTTCTTGAACAGGTAAA 0.279000 8 184 0 0 0.004482 0 0 ZNF608 57507 broad.mit.edu 37 5 123974878 123974878 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr5:123974878G>C ENST00000306315.5 - 8 4915 c.4480C>G c.(4480-4482)Cag>Gag p.Q1494E ZNF608_ENST00000504926.1_Missense_Mutation_p.Q1067E|ZNF608_ENST00000513985.1_5'UTR NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1494 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCACCTGCTGAGAGGCAACA 0.423000 16 31 0 0 0.008871 0 0 MDGA2 161357 broad.mit.edu 37 14 47426688 47426688 + Nonsense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr14:47426688G>A ENST00000426342.1 - 9 1830 c.1084C>T c.(1084-1086)Cag>Tag p.Q362* MDGA2_ENST00000439988.2_Nonsense_Mutation_p.Q591*|MDGA2_ENST00000399232.2_Nonsense_Mutation_p.Q660*|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.Q362* NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 591 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GTGTATTCCTGAGAGTCAAAT 0.448000 39 67 0 0 0.010771 0 0 NCAN 1463 broad.mit.edu 37 19 19356217 19356217 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:19356217C>T ENST00000252575.5 + 13 3631 c.3588C>T c.(3586-3588)aaC>aaT p.N1196N NCAN_ENST00000538881.1_Silent_p.N647N NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1196 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GGCGCTGGAACGATGTCCCCT 0.552000 21 56 0 0 0.002780 0 0 DBI 1622 broad.mit.edu 37 2 120128369 120128369 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:120128369G>A ENST00000542275.1 + 3 448 c.364G>A c.(364-366)Gag>Aag p.E122K DBI_ENST00000311521.4_Missense_Mutation_p.E78K|DBI_ENST00000535617.1_Missense_Mutation_p.E103K|DBI_ENST00000409094.1_Missense_Mutation_p.E78K|DBI_ENST00000393103.2_Missense_Mutation_p.E62K|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000535757.1_Missense_Mutation_p.E78K|DBI_ENST00000355857.3_Missense_Mutation_p.E61K NM_001178017.1 NP_001171488.1 P07108 ACBP_HUMAN diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) 61 transport benzodiazepine receptor binding|fatty-acyl-CoA binding kidney(1)|lung(4)|skin(1) 6 TGCCTGGAATGAGCTGAAAGG 0.418000 14 27 0 0 0.003163 0 0 LOC100505782 100505782 broad.mit.edu 37 17 39580799 39580799 + RNA SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:39580799G>C ENST00000432258.1 + 0 3388 GGCTGCACAGGAGCTTCAGAT 0.572000 4 108 0 0 0.009096 0 0 KIAA1467 57613 broad.mit.edu 37 12 13221564 13221564 + Splice_Site SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr12:13221564C>T ENST00000197268.8 + 9 1407 c.1286_splice c.e9-1 p.S429_splice NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 429 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TTATTTGCAGCCAGCCTACTC 0.418000 39 72 0 0 0.010771 0 0 DHX40 79665 broad.mit.edu 37 17 57679960 57679960 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:57679960C>T ENST00000451169.2 + 18 2099 c.1740C>T c.(1738-1740)ttC>ttT p.F580F DHX40_ENST00000251241.4_Silent_p.F628F|DHX40_ENST00000425628.3_Silent_p.F551F Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 628 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CGGGCTATTTCAAAAATGTAG 0.328000 5 73 0 0 0.000602 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105912815 105912815 + Nonsense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:105912815G>A ENST00000393359.2 - 4 1462 c.1036C>T c.(1036-1038)Cag>Tag p.Q346* TGFBRAP1_ENST00000258449.1_Nonsense_Mutation_p.Q346* Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 346 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 TTACAAACCTGAAATTTTTCC 0.428000 37 74 0 0 0.010771 0 0 DPEP2 64174 broad.mit.edu 37 16 68025794 68025794 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:68025794G>C ENST00000412757.2 - 6 1274 c.609C>G c.(607-609)ttC>ttG p.F203L DPEP2_ENST00000572888.1_Missense_Mutation_p.F203L|DPEP2_ENST00000393847.1_Missense_Mutation_p.F203L Q9H4A9 DPEP2_HUMAN dipeptidase 2 203 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) CCAGCATGTAGAAGGTAGGTA 0.592000 28 58 0 0 0.007291 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150525982 150525982 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:150525982G>A ENST00000271643.4 + 6 751 c.515G>A c.(514-516)cGc>cAc p.R172H ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R172H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R172H|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R172H|RP11-54A4.2_ENST00000442435.2_RNA NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 172 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CACCGGAACCGCAGGCACCCT 0.577000 5 153 0 0 0.001168 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128844701 128844701 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:128844701C>T ENST00000310343.9 - 20 2348 c.2349G>A c.(2347-2349)ttG>ttA p.L783L ARHGAP32_ENST00000392657.3_Silent_p.L434L|ARHGAP32_ENST00000524655.1_Silent_p.L709L|ARHGAP32_ENST00000527272.1_Silent_p.L434L NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 783 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CTGGTGGGCTCAAGTCAACAT 0.483000 25 10 0 0 0.003330 0 0 ITFG3 83986 broad.mit.edu 37 16 312520 312520 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:312520C>G ENST00000399932.3 + 8 1390 c.939C>G c.(937-939)ctC>ctG p.L313L ITFG3_ENST00000301678.3_Silent_p.L313L|ITFG3_ENST00000301679.2_Silent_p.L313L|ITFG3_ENST00000442458.2_Silent_p.L313L|ITFG3_ENST00000600536.1_Silent_p.L313L|ITFG3_ENST00000450082.2_Silent_p.L313L Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 313 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) AGAGCATGCTCAATGCCACCA 0.652000 25 38 0 0 0.004656 0 0 ERCC3 2071 broad.mit.edu 37 2 128038127 128038127 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:128038127C>G ENST00000493187.2 - 9 1694 c.1231G>C c.(1231-1233)Gac>Cac p.D411H ERCC3_ENST00000285398.2_Missense_Mutation_p.D475H P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 475 Helicase ATP-binding. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) ACAATTTTGTCATCTTCGCGG 0.507000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 17 45 0 0 0.004990 0 0 TTN 7273 broad.mit.edu 37 2 179458787 179458787 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:179458787C>G ENST00000589042.1 - 297 58557 c.58333G>C c.(58333-58335)Gag>Cag p.E19445Q TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10505Q|TTN_ENST00000342992.6_Missense_Mutation_p.E16877Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10572Q|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10380Q|TTN_ENST00000591111.1_Missense_Mutation_p.E17804Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17804 Fibronectin type-III 41. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGATCTTCTCTAAAGCAAGT 0.438000 60 112 0 0 0.014410 0 0 RP11-383M4.6 0 broad.mit.edu 37 9 84549692 84549692 + RNA SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr9:84549692C>T ENST00000585776.1 - 0 1039 SPATA31D4_ENST00000341875.4_RNA CCATGCCCCACAGGGATCCTG 0.498000 7 29 0 0 0.008291 0 0 IGSF10 285313 broad.mit.edu 37 3 151155107 151155107 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:151155107C>G ENST00000282466.3 - 6 7241 c.7242G>C c.(7240-7242)agG>agC p.R2414S IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2414 Ig-like C2-type 10. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAACTTTATTCCTAGCTGCAC 0.393000 62 131 0 0 0.014410 0 0 TOP3B 8940 broad.mit.edu 37 22 22317203 22317203 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr22:22317203C>G ENST00000398793.2 - 12 1701 c.1267G>C c.(1267-1269)Gac>Cac p.D423H TOP3B_ENST00000357179.5_Missense_Mutation_p.D423H|TOP3B_ENST00000413067.2_Missense_Mutation_p.D152H NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 423 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) TACTTGCAGTCATGGCTGACC 0.612000 36 64 0 0 0.006230 0 0 PARP1 142 broad.mit.edu 37 1 226567800 226567800 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:226567800C>G ENST00000366794.5 - 10 1509 c.1366G>C c.(1366-1368)Gag>Cag p.E456Q NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 456 Automodification domain.|BRCT. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) AGGAAGTCCTCAGACACAACT 0.488000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 18 48 0 0 0.007413 0 0 GALM 130589 broad.mit.edu 37 2 38893363 38893363 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:38893363G>A ENST00000272252.5 + 1 312 c.60G>A c.(58-60)gaG>gaA p.E20E GALM_ENST00000410063.1_Silent_p.E20E NM_138801.2 NP_620156.1 Q96C23 GALM_HUMAN galactose mutarotase (aldose 1-epimerase) 20 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding p.E20E(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(82;0.248) GGACAGTGGAGAAGTTCCAGC 0.597000 15 42 0 0 0.002450 0 0 RNFT2 84900 broad.mit.edu 37 12 117217096 117217096 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr12:117217096C>T ENST00000257575.4 + 7 1058 c.825C>T c.(823-825)atC>atT p.I275I RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Silent_p.I275I|RNFT2_ENST00000392549.2_Silent_p.I275I Q96EX2 RNFT2_HUMAN ring finger protein, transmembrane 2 275 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) ACATCACCATCGCCCTCAAGT 0.552000 60 81 0 0 0.014410 0 0 HTR1F 3355 broad.mit.edu 37 3 88040493 88040493 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:88040493G>C ENST00000319595.4 + 1 648 c.594G>C c.(592-594)ttG>ttC p.L198F NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 198 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CATTGATTTTGATCCTTTACT 0.408000 51 16 0 0 0.014410 0 0 ASAP3 55616 broad.mit.edu 37 1 23759683 23759683 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:23759683G>A ENST00000336689.3 - 22 2254 c.2210C>T c.(2209-2211)gCc>gTc p.A737V ASAP3_ENST00000495646.1_Missense_Mutation_p.A241V|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.A728V NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 737 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 TCCCAGGCTGGCGACAGTCTC 0.602000 81 93 0 0 0.014410 0 0 UMODL1 89766 broad.mit.edu 37 21 43531075 43531075 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr21:43531075C>T ENST00000400427.1 + 11 1923 c.1527C>T c.(1525-1527)ctC>ctT p.L509L UMODL1_ENST00000400424.1_Silent_p.L509L|UMODL1_ENST00000408989.2_Silent_p.L581L|UMODL1_ENST00000408910.2_Silent_p.L581L NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 576 EGF-like 2; calcium-binding (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CAGCAGCCCTCGGCCTAGAGA 0.657000 18 42 0 0 0.010504 0 0 PRSS50 29122 broad.mit.edu 37 3 46759219 46759219 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:46759219C>G ENST00000460241.1 - 6 1766 c.96G>C c.(94-96)ctG>ctC p.L32L PRSS50_ENST00000315170.7_Silent_p.L32L Q9UI38 TSP50_HUMAN protease, serine, 50 32 proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 CTGCAGACCTCAGCAACAGAA 0.721000 6 2 0 0 0.001984 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68208741 68208741 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:68208741G>A ENST00000262215.3 - 5 953 c.564C>T c.(562-564)ctC>ctT p.L188L NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 188 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TCTGATTGATGAGATTTTTGC 0.378000 42 101 0 0 0.014410 0 0 RAC2 5880 broad.mit.edu 37 22 37637674 37637674 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr22:37637674G>A ENST00000249071.6 - 2 181 c.60C>T c.(58-60)ctC>ctT p.L20L RAC2_ENST00000405484.1_Silent_p.L13L|RAC2_ENST00000401529.3_Silent_p.L20L|RAC2_ENST00000406508.1_5'UTR NM_002872.3 NP_002863.1 P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 20 axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 12 TGTAGCTGATGAGAAGGCAGG 0.622000 52 72 0 0 0.014410 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074441 76074441 + RNA SNP A A T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:76074441A>T ENST00000395215.3 + 0 620 CGAGCTGCAGAGAAGCGGTCC 0.557000 4 54 0 0 0.001168 0 0 ABL2 27 broad.mit.edu 37 1 179095631 179095631 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:179095631G>A ENST00000502732.1 - 4 771 c.568C>T c.(568-570)Cta>Tta p.L190L ABL2_ENST00000408940.3_Silent_p.L154L|ABL2_ENST00000511413.1_Silent_p.L190L|ABL2_ENST00000344730.3_Silent_p.L175L|ABL2_ENST00000512653.1_Silent_p.L175L|ABL2_ENST00000392043.3_Silent_p.L169L|ABL2_ENST00000504405.1_Silent_p.L154L|ABL2_ENST00000367623.4_Silent_p.L169L|ABL2_ENST00000507173.1_Silent_p.L169L NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 190 SH2. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CCATTGATTAGACTGCTGAGC 0.537000 T ETV6 AML 48 140 0 0 0.014410 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 4 51 0 0 0.000602 0 0 MYPN 84665 broad.mit.edu 37 10 69881286 69881286 + Nonsense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr10:69881286G>T ENST00000358913.5 + 2 579 c.91G>T c.(91-93)Gag>Tag p.E31* MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Nonsense_Mutation_p.E31*|MYPN_ENST00000540630.1_Nonsense_Mutation_p.E31* NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 31 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GGGAAACAATGAGAGGAGTCG 0.522000 13 73 9.31168e-06 9.5682e-06 0.001855 1 0 OR1G1 8390 broad.mit.edu 37 17 3030534 3030534 + Missense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:3030534G>T ENST00000328890.2 - 1 341 c.312C>A c.(310-312)ttC>ttA p.F104L NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 CAAATAACATGAAAAAATACA 0.483000 10 82 0.000442599 0.0004523 0.006214 1 0 OR2A14 135941 broad.mit.edu 37 7 143826410 143826410 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:143826410G>A ENST00000408899.2 + 1 260 c.205G>A c.(205-207)Gac>Aac p.D69N NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) GGCCATTGTTGACATATCCTA 0.463000 79 140 0 0 0.014410 0 0 ACSM1 116285 broad.mit.edu 37 16 20696551 20696551 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:20696551C>G ENST00000307493.4 - 2 434 c.367G>C c.(367-369)Gag>Cag p.E123Q ACSM1_ENST00000520010.1_Missense_Mutation_p.E123Q|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 123 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 AGCCACCACTCAGGAACTCGA 0.582000 22 74 0 0 0.012319 0 0 HIRIP3 8479 broad.mit.edu 37 16 30005773 30005773 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:30005773G>A ENST00000279392.3 - 4 1523 c.693C>T c.(691-693)atC>atT p.I231I HIRIP3_ENST00000564026.1_Intron NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 231 Glu-rich. chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 TCTGGGCTAGGATCTCCTCTT 0.498000 6 230 0 0 0.003080 0 0 ZNF394 84124 broad.mit.edu 37 7 99097680 99097680 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:99097680C>T ENST00000337673.6 - 1 240 c.37G>A c.(37-39)Gac>Aac p.D13N ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.D13N|ZNF789_ENST00000493485.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 13 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AACTCGGCGTCACTGCCGCGC 0.597000 52 48 0 0 0.014410 0 0 RFPL2 10739 broad.mit.edu 37 22 32590359 32590359 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr22:32590359C>G ENST00000400237.1 - 3 1173 c.238G>C c.(238-240)Gag>Cag p.E80Q RFPL2_ENST00000400236.3_5'UTR|RFPL2_ENST00000248983.4_Intron O75678 RFPL2_HUMAN ret finger protein-like 2 80 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 CCTCTGTCCTCCAGCTGCTTC 0.562000 15 23 0 0 0.006122 0 0 OR8H1 219469 broad.mit.edu 37 11 56058397 56058397 + Missense_Mutation SNP T T G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:56058397T>G ENST00000313022.2 - 1 169 c.142A>C c.(142-144)Ata>Cta p.I48L NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) AGGCGGATTATCAATATCATC 0.423000 75 201 0 0 0.014410 0 0 ABCB11 8647 broad.mit.edu 37 2 169788945 169788945 + Missense_Mutation SNP A A G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:169788945A>G ENST00000263817.6 - 24 3279 c.3155T>C c.(3154-3156)tTt>tCt p.F1052S NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1052 bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CAGCAGTTGAAAAAAGCGTGC 0.433000 8 10 0 0 0.003080 0 0 TRPV1 7442 broad.mit.edu 37 17 3495380 3495380 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:3495380C>G ENST00000174621.6 - 2 478 c.189G>C c.(187-189)gaG>gaC p.E63D TRPV1_ENST00000399759.3_Missense_Mutation_p.D89H|TRPV1_ENST00000425167.2_Missense_Mutation_p.D89H|TRPV1_ENST00000576351.1_Missense_Mutation_p.D89H|TRPV1_ENST00000399756.4_Missense_Mutation_p.D89H|TRPV1_ENST00000571088.1_Missense_Mutation_p.D89H|TRPV1_ENST00000310522.5_Missense_Mutation_p.D89H|SHPK_ENST00000572705.1_Missense_Mutation_p.D89H Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 763 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) GTGGGGCCGTCTCCTGGCCTC 0.657000 12 43 0 0 0.001855 0 0 MMP8 4317 broad.mit.edu 37 11 102592421 102592421 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:102592421C>G ENST00000236826.3 - 3 518 c.420G>C c.(418-420)tgG>tgC p.W140C NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 140 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ATGCAACACTCCAGAGTTCAA 0.448000 21 350 0 0 0.012319 0 0 ACRC 93953 broad.mit.edu 37 X 70814205 70814205 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chrX:70814205G>C ENST00000373695.1 + 4 702 c.165G>C c.(163-165)agG>agC p.R55S ACRC_ENST00000373696.3_Missense_Mutation_p.R55S Q96QF7 ACRC_HUMAN acidic repeat containing 55 nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) TCCAGTCAAGGAGTGGTGACA 0.403000 32 8 0 0 0.006230 0 0 PARS2 25973 broad.mit.edu 37 1 55224213 55224213 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:55224213C>G ENST00000371279.3 - 2 704 c.622G>C c.(622-624)Gat>Cat p.D208H NM_152268.3 NP_689481.2 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase 2, mitochondrial (putative) 208 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1) 15 L-Proline(DB00172) GTGTACATATCCTTCATGTAA 0.552000 54 56 0 0 0.014410 0 0 CSDE1 7812 broad.mit.edu 37 1 115275262 115275262 + Nonsense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:115275262G>C ENST00000438362.2 - 10 1529 c.1151C>G c.(1150-1152)tCa>tGa p.S384* CSDE1_ENST00000358528.4_Nonsense_Mutation_p.S338*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.S307*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.S208*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.S307*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.S338*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.S353* NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 338 CSD 5. IKCVDRDVRMFFHFSEILDGNQL -> HPSVWIRECSVCSF PLPVKFWMGTSS (in Ref. 2; AAD27787). male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATGTATTTGACAGAACTTC 0.373000 13 108 0 0 0.003163 0 0 UBXN1 51035 broad.mit.edu 37 11 62445293 62445293 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:62445293C>T ENST00000294119.2 - 6 625 c.494G>A c.(493-495)aGa>aAa p.R165K UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000533000.1_Missense_Mutation_p.R23K|UBXN1_ENST00000529640.1_Missense_Mutation_p.R161K|UBXN1_ENST00000301935.5_Missense_Mutation_p.R165K NM_015853.3 NP_056937.2 Q04323 UBXN1_HUMAN UBX domain protein 1 165 Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 GATCTTTTCTCTAACTCTTTG 0.433000 50 105 0 0 0.014410 0 0 TSSK2 23617 broad.mit.edu 37 22 19119070 19119070 + Missense_Mutation SNP T T G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr22:19119070T>G ENST00000399635.2 + 1 750 c.158T>G c.(157-159)gTg>gGg p.V53G DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 53 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) ACTGACTTTGTGGAGAGATTC 0.498000 22 30 0 0 0.003330 0 0 NTRK2 4915 broad.mit.edu 37 9 87636301 87636301 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr9:87636301C>G ENST00000376214.1 + 21 3404 c.2466C>G c.(2464-2466)ctC>ctG p.L822L NTRK2_ENST00000376213.1_Silent_p.L806L|NTRK2_ENST00000277120.3_Silent_p.L822L|NTRK2_ENST00000323115.4_Silent_p.L806L NM_006180.3 NP_006171.2 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 806 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TCCATACCCTCCTTCAGAACT 0.597000 TSP Lung(25;0.17) 88 16 0 0 0.014410 0 0 ACAD11 84129 broad.mit.edu 37 3 132345633 132345633 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:132345633C>G ENST00000264990.6 - 9 2070 c.1099G>C c.(1099-1101)Gat>Cat p.D367H ACAD11_ENST00000355458.3_Missense_Mutation_p.D367H|ACAD11_ENST00000481970.2_Missense_Mutation_p.D367H|ACAD11_ENST00000545291.1_5'UTR NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 CCAGTAGTATCAATCTGTGGT 0.338000 19 55 0 0 0.010504 0 0 PDK1 5163 broad.mit.edu 37 2 173429336 173429336 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:173429336C>G ENST00000410055.1 + 4 616 c.516C>G c.(514-516)gtC>gtG p.V172V PDK1_ENST00000544863.1_Silent_p.V17V|PDK1_ENST00000543905.1_Silent_p.V96V|PDK1_ENST00000282077.2_Silent_p.V172V|PDK1_ENST00000392571.2_Silent_p.V192V NM_002610.3 NP_002601.1 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase, isozyme 1 172 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.12) TGGATCCTGTCACCAGCCAGA 0.443000 Autosomal Dominant Polycystic Kidney Disease 26 55 0 0 0.004656 0 0 TYK2 7297 broad.mit.edu 37 19 10469922 10469922 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:10469922C>G ENST00000525621.1 - 15 2585 c.2104G>C c.(2104-2106)Gag>Cag p.E702Q TYK2_ENST00000264818.6_Missense_Mutation_p.E702Q|TYK2_ENST00000529370.1_Missense_Mutation_p.E702Q|TYK2_ENST00000524462.1_Missense_Mutation_p.E517Q NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 702 Protein kinase 1. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TGGCCCCGCTCCCTCCGCAGC 0.637000 3 32 0 0 0.004672 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862469 25862469 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:25862469G>A ENST00000397060.4 - 3 404 c.295C>T c.(295-297)Cct>Tct p.P99S SLC17A3_ENST00000360657.3_Missense_Mutation_p.P99S|SLC17A3_ENST00000361703.6_Missense_Mutation_p.P99S NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 99 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 ACCTTTGCAGGAAGACTCTTT 0.383000 17 14 0 0 0.007413 0 0 YEATS2 55689 broad.mit.edu 37 3 183493896 183493896 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:183493896C>T ENST00000305135.5 + 18 2757 c.2562C>T c.(2560-2562)ctC>ctT p.L854L NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 854 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CTTACATCCTCAAGCAAACTC 0.438000 11 33 0 0 0.002450 0 0 GFOD2 81577 broad.mit.edu 37 16 67709325 67709325 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:67709325C>G ENST00000268797.7 - 3 1236 c.891G>C c.(889-891)caG>caC p.Q297H GFOD2_ENST00000602377.1_5'UTR NM_030819.3 NP_110446.3 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain containing 2 297 proteinaceous extracellular matrix binding|oxidoreductase activity breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) GCGGGACATCCTGGGGCCCCT 0.667000 5 74 0 0 0.001168 0 0 NSMAF 8439 broad.mit.edu 37 8 59522253 59522253 + Silent SNP T T C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:59522253T>C ENST00000038176.3 - 10 809 c.597A>G c.(595-597)aaA>aaG p.K199K NSMAF_ENST00000427130.2_Silent_p.K230K|NSMAF_ENST00000519858.1_5'UTR NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 199 GRAM. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) CCATTTCTGCTTTGCATTCCA 0.428000 57 32 0 0 0.014410 0 0 MTMR7 9108 broad.mit.edu 37 8 17228648 17228648 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:17228648G>C ENST00000180173.5 - 3 242 c.208C>G c.(208-210)Ctg>Gtg p.L70V MTMR7_ENST00000521857.1_Missense_Mutation_p.L70V NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 70 protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CGAATCAGCAGAGGGCATCCG 0.453000 6 94 0 0 0.001984 0 0 WNT9A 7483 broad.mit.edu 37 1 228113207 228113207 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:228113207C>T ENST00000272164.5 - 2 119 c.109G>A c.(109-111)Gag>Aag p.E37K WNT9A_ENST00000497852.1_5'UTR NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 37 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) GTCAGGGGCTCGCTGCCCGTC 0.711000 7 10 0 0 0.001984 0 0 FAM83E 54854 broad.mit.edu 37 19 49106753 49106753 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:49106753C>T ENST00000263266.3 - 4 1363 c.1174G>A c.(1174-1176)Gag>Aag p.E392K NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 392 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GGTCTCACCTCGTTGTCCCCA 0.706000 12 24 0 0 0.002450 0 0 PDGFA 5154 broad.mit.edu 37 7 552064 552064 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:552064C>G ENST00000402802.3 - 3 596 c.189G>C c.(187-189)ctG>ctC p.L63L PDGFA_ENST00000354513.5_Silent_p.L63L NM_033023.4 NP_148983.1 P04085 PDGFA_HUMAN platelet-derived growth factor alpha polypeptide 63 actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15) CGTGAGCTCTCAGGCTGGTGT 0.647000 26 79 0 0 0.013726 0 0 ODF2L 57489 broad.mit.edu 37 1 86818601 86818601 + Missense_Mutation SNP C C G rs149282656 byFrequency TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:86818601C>G ENST00000359242.3 - 17 2115 c.1834G>C c.(1834-1836)Gaa>Caa p.E612Q ODF2L_ENST00000317336.7_Missense_Mutation_p.E612Q|ODF2L_ENST00000370566.3_Missense_Mutation_p.E530Q|ODF2L_ENST00000394731.1_Missense_Mutation_p.E452Q|ODF2L_ENST00000370567.1_Missense_Mutation_p.E583Q|ODF2L_ENST00000294678.2_Missense_Mutation_p.E596Q NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 612 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) AGCTCAGTTTCCAGATCTAAT 0.279000 23 31 0 0 0.002780 0 0 SNHG14 104472715 broad.mit.edu 37 15 25349693 25349693 + RNA SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:25349693C>G ENST00000546682.1 + 0 2163 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 CTGCTGGTCTCCATGATTGAA 0.453000 2 3 0 0 0.004672 0 0 FAM19A3 284467 broad.mit.edu 37 1 113265703 113265703 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:113265703G>A ENST00000369630.3 + 3 398 c.181G>A c.(181-183)Gag>Aag p.E61K FAM19A3_ENST00000361886.3_Missense_Mutation_p.E61K Q7Z5A8 F19A3_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 61 extracellular region p.N56_R63delNRNRIEER(1) lung(4)|ovary(1) 5 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAACCGCATCGAGGAGCGCTC 0.657000 16 22 0 0 0.003163 0 0 C5orf51 285636 broad.mit.edu 37 5 41904484 41904484 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr5:41904484C>G ENST00000381647.2 + 1 34 c.15C>G c.(13-15)gtC>gtG p.V5V C5orf51_ENST00000505931.2_Intron NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 5 endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 CGGCCGCAGTCTCTAGTGTGG 0.667000 22 39 0 0 0.003954 0 0 CYFIP1 23191 broad.mit.edu 37 15 22997806 22997806 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:22997806G>C ENST00000313077.7 + 27 3177 c.3052G>C c.(3052-3054)Gaa>Caa p.E1018Q CYFIP1_ENST00000435939.2_Missense_Mutation_p.E587Q|CYFIP1_ENST00000560848.1_Missense_Mutation_p.E1018Q NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 1018 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GTCTTTAGAAGAAGTGTGTGA 0.527000 98 170 0 0 0.014410 0 0 DAB2IP 153090 broad.mit.edu 37 9 124530800 124530800 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr9:124530800C>G ENST00000408936.3 + 10 1969 c.1787C>G c.(1786-1788)tCc>tGc p.S596C DAB2IP_ENST00000309989.1_Missense_Mutation_p.S472C|DAB2IP_ENST00000259371.2_Missense_Mutation_p.S568C Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 596 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 CTGGAGATCTCCAACCCCGAG 0.587000 5 141 0 0 0.001984 0 0 MFSD6 54842 broad.mit.edu 37 2 191362379 191362379 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:191362379C>G ENST00000392328.1 + 7 2430 c.2106C>G c.(2104-2106)ctC>ctG p.L702L MFSD6_ENST00000535751.1_Silent_p.L164L|MFSD6_ENST00000281416.7_Silent_p.L702L NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 702 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 TCTATGCACTCTACCAAATTA 0.463000 33 26 0 0 0.010818 0 0 RBBP8 5932 broad.mit.edu 37 18 20562197 20562197 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr18:20562197C>G ENST00000399722.2 + 7 796 c.445C>G c.(445-447)Caa>Gaa p.Q149E RBBP8_ENST00000327155.5_Missense_Mutation_p.Q149E|RBBP8_ENST00000399725.2_Missense_Mutation_p.Q149E|RBBP8_ENST00000360790.5_Missense_Mutation_p.Q149E|RBBP8_ENST00000585177.1_3'UTR NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 149 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TCAACAGCATCAAGCAGCTGA 0.403000 Homologous recombination 15 21 0 0 0.004007 0 0 GSTO1 9446 broad.mit.edu 37 10 106019428 106019428 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr10:106019428G>A ENST00000539281.1 + 3 510 c.154G>A c.(154-156)Ggt>Agt p.G52S GSTO1_ENST00000369710.4_Missense_Mutation_p.G80S|GSTO1_ENST00000369713.5_Missense_Mutation_p.G80S|GSTO1_ENST00000493946.1_3'UTR NM_001191003.1 NP_001177932.1 P78417 GSTO1_HUMAN glutathione S-transferase omega 1 80 GST N-terminal. xenobiotic metabolic process cytosol glutathione transferase activity|monodehydroascorbate reductase (NADH) activity large_intestine(1)|lung(1)|stomach(1) 3 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147) Glutathione(DB00143) AAACAGTCAGGGTCAGCTGAT 0.468000 43 63 0 0 0.010771 0 0 PPP1R2 5504 broad.mit.edu 37 3 195243706 195243706 + Missense_Mutation SNP T T A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:195243706T>A ENST00000328432.3 - 6 966 c.606A>T c.(604-606)ttA>ttT p.L202F NM_006241.4 NP_006232.1 P41236 IPP2_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 2 202 glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2) 6 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) ATGAACTTCGTAATTTGTTTT 0.358000 29 27 0 0 0.003271 0 0 SHANK2 22941 broad.mit.edu 37 11 70332212 70332212 + Missense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:70332212G>T ENST00000338508.4 - 32 4188 c.4189C>A c.(4189-4191)Ctg>Atg p.L1397M SHANK2_ENST00000423696.2_Missense_Mutation_p.L1017M|SHANK2_ENST00000409161.1_Missense_Mutation_p.L800M|SHANK2_ENST00000449833.2_Missense_Mutation_p.L801M Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1017 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACGGATGCCAGAGGGGGAGGA 0.582000 34 457 4.92203e-23 5.29082e-23 0.006230 1 0 MTUS1 57509 broad.mit.edu 37 8 17613105 17613105 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:17613105G>A ENST00000381869.3 - 2 685 c.212C>T c.(211-213)tCt>tTt p.S71F MTUS1_ENST00000519263.1_Missense_Mutation_p.S71F|MTUS1_ENST00000381862.3_Missense_Mutation_p.S71F|MTUS1_ENST00000262102.6_Missense_Mutation_p.S71F NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 71 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle p.S71Y(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) AAGGCTTAAAGAAATATTTTC 0.388000 6 76 0 0 0.001168 0 0 ARAP2 116984 broad.mit.edu 37 4 36130348 36130348 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr4:36130348G>C ENST00000303965.4 - 21 3936 c.3447C>G c.(3445-3447)atC>atG p.I1149M NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1149 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCTTTTGATAGATATATTTGC 0.294000 25 44 0 0 0.003954 0 0 NLRC4 58484 broad.mit.edu 37 2 32476659 32476659 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:32476659G>C ENST00000404025.2 - 5 762 c.274C>G c.(274-276)Cag>Gag p.Q92E NLRC4_ENST00000360906.5_Missense_Mutation_p.Q92E|NLRC4_ENST00000402280.1_Missense_Mutation_p.Q92E|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 92 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCTGATGTCTGATGAAAAAGA 0.433000 25 48 0 0 0.005443 0 0 FAM161A 84140 broad.mit.edu 37 2 62067353 62067353 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:62067353G>A ENST00000404929.1 - 3 797 c.786C>T c.(784-786)atC>atT p.I262I FAM161A_ENST00000405894.3_Silent_p.I262I NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 262 response to stimulus|visual perception centrosome p.I153I(1)|p.I262I(1) breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTACCATTTCGATATCTGATT 0.393000 37 69 0 0 0.005524 0 0 TBX19 9095 broad.mit.edu 37 1 168281973 168281973 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:168281973C>T ENST00000367821.3 + 8 1131 c.1080C>T c.(1078-1080)agC>agT p.S360S TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 360 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) GGACCATCAGCAATGGTGCCG 0.617000 35 83 0 0 0.006999 0 0 CSTF3 1479 broad.mit.edu 37 11 33182907 33182907 + Translation_Start_Site SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:33182907G>C ENST00000323959.4 - 0 104 CSTF3_ENST00000438862.2_De_novo_Start_OutOfFrame|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000524827.1_De_novo_Start_OutOfFrame|CSTF3_ENST00000431742.2_De_novo_Start_OutOfFrame NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 ACTGACCGTCGATGGGAAGCT 0.557000 OREG0020867 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 20 0 0 0.004656 0 0 CHD9 80205 broad.mit.edu 37 16 53260306 53260306 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:53260306G>C ENST00000566029.1 + 5 2134 c.1925G>C c.(1924-1926)aGa>aCa p.R642T CHD9_ENST00000564845.1_Missense_Mutation_p.R642T|CHD9_ENST00000447540.1_Missense_Mutation_p.R642T|CHD9_ENST00000398510.3_Missense_Mutation_p.R642T Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 642 Lys-rich. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CAAATTAAAAGAAAAAAATAC 0.289000 16 24 0 0 0.003163 0 0 APOB 338 broad.mit.edu 37 2 21232316 21232316 + Missense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:21232316G>T ENST00000233242.1 - 26 7551 c.7424C>A c.(7423-7425)gCc>gAc p.A2475D NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2475 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGCAACTGTGGCCTTGGTTTC 0.418000 26 107 2.65835e-16 2.84116e-16 0.007291 1 0 RNF208 727800 broad.mit.edu 37 9 140114909 140114909 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr9:140114909C>T ENST00000392827.1 - 2 924 c.756G>A c.(754-756)cgG>cgA p.R252R RNF208_ENST00000391553.1_Silent_p.R252R Q9H0X6 RN208_HUMAN ring finger protein 208 252 zinc ion binding lung(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) ACAGTGGGTTCCGCACGTGGC 0.701000 17 8 0 0 0.006122 0 0 LAMB1 3912 broad.mit.edu 37 7 107601753 107601753 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:107601753C>T ENST00000393561.1 - 15 2263 c.2079G>A c.(2077-2079)ccG>ccA p.P693P LAMB1_ENST00000393560.1_Silent_p.P669P|LAMB1_ENST00000222399.6_Silent_p.P669P P07942 LAMB1_HUMAN laminin, beta 1 669 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAAGCACACCGGCCGAGGAA 0.463000 9 55 0 0 0.008291 0 0 ITGB1BP2 26548 broad.mit.edu 37 X 70524109 70524109 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chrX:70524109C>T ENST00000538820.1 + 8 998 c.658C>T c.(658-660)Cca>Tca p.P220S ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.P238S Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein (melusin) 2 238 CS. muscle organ development|signal transduction SH3 domain binding breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1) 14 Renal(35;0.156) TGGCCAGATTCCACTTCCTGC 0.473000 46 13 0 0 0.014410 0 0 SLC5A3 6526 broad.mit.edu 37 21 35467896 35467896 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr21:35467896C>G ENST00000381151.3 + 2 911 c.399C>G c.(397-399)ctC>ctG p.L133L MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 133 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 CTCTGATTCTCTATATTTTCA 0.448000 92 170 0 0 0.014410 0 0 ME1 4199 broad.mit.edu 37 6 83921771 83921771 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:83921771G>A ENST00000369705.3 - 14 1707 c.1591C>T c.(1591-1593)Cct>Tct p.P531S ME1_ENST00000541327.1_Missense_Mutation_p.P365S|ME1_ENST00000543031.1_Missense_Mutation_p.P456S NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 531 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TGCGGTTCAGGATAAACTGTG 0.358000 32 56 0 0 0.004289 0 0 TMEM234 56063 broad.mit.edu 37 1 32682865 32682865 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:32682865C>G ENST00000373593.1 - 4 343 c.323G>C c.(322-324)gGa>gCa p.G108A TMEM234_ENST00000485689.1_5'UTR|TMEM234_ENST00000309777.6_Missense_Mutation_p.G108A|TMEM234_ENST00000344461.3_Missense_Mutation_p.G108A|TMEM234_ENST00000545122.1_Missense_Mutation_p.G108A Q8WY98 TM234_HUMAN transmembrane protein 234 108 integral to membrane kidney(2)|lung(3) 5 CTTACGTTTTCCACCAATATC 0.522000 29 48 0 0 0.012213 0 0 UROC1 131669 broad.mit.edu 37 3 126219702 126219702 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:126219702G>A ENST00000290868.2 - 11 1034 c.981C>T c.(979-981)caC>caT p.H327H UROC1_ENST00000383579.3_Silent_p.H387H NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 327 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TGTCCAATTCGTGGACCAGGC 0.637000 23 40 0 0 0.003330 0 0 LATS1 9113 broad.mit.edu 37 6 150001095 150001095 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:150001095C>G ENST00000543571.1 - 5 3056 c.2509G>C c.(2509-2511)Gat>Cat p.D837H LATS1_ENST00000253339.5_Missense_Mutation_p.D837H|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 837 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) CCATCACGATCAATCAAAATA 0.363000 29 49 0 0 0.007291 0 0 MICAL2 9645 broad.mit.edu 37 11 12248645 12248645 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:12248645C>G ENST00000256194.4 + 15 2250 c.1962C>G c.(1960-1962)ctC>ctG p.L654L MICAL2_ENST00000379612.3_Silent_p.L654L|MICAL2_ENST00000537344.1_Silent_p.L654L|MICAL2_ENST00000342902.5_Silent_p.L654L|MICAL2_ENST00000527546.1_Silent_p.L654L NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 654 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.L654L(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) ATAACTATCTCAACCTCACAT 0.443000 15 7 0 0 0.008871 0 0 TTF1 7270 broad.mit.edu 37 9 135266215 135266215 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr9:135266215C>G ENST00000334270.2 - 7 2030 c.1991G>C c.(1990-1992)aGa>aCa p.R664T NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 664 Myb-like 2. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ACCACGATTTCTTTCTGTAGA 0.358000 107 26 0 0 0.014410 0 0 MMP1 4312 broad.mit.edu 37 11 102666324 102666324 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:102666324G>A ENST00000315274.6 - 5 707 c.640C>T c.(640-642)Cgt>Tgt p.R214C WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 214 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.R214S(1) breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) GCTGCAACACGATGTAAGTTG 0.368000 15 168 0 0 0.003163 0 0 ZC3H14 79882 broad.mit.edu 37 14 89039315 89039315 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr14:89039315G>A ENST00000251038.5 + 6 1050 c.825G>A c.(823-825)ccG>ccA p.P275P ZC3H14_ENST00000556945.1_Silent_p.P275P|ZC3H14_ENST00000555755.1_Silent_p.P275P|ZC3H14_ENST00000336693.4_Silent_p.P241P|ZC3H14_ENST00000557607.1_Silent_p.P120P|ZC3H14_ENST00000393514.5_Silent_p.P275P|ZC3H14_ENST00000359301.3_Silent_p.P241P|ZC3H14_ENST00000302216.8_Silent_p.P275P NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 275 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 CGTATAGTCCGTTCTTTAGAA 0.388000 4 80 0 0 0.000602 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37199482 37199482 + RNA SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:37199482G>C ENST00000425901.2 + 0 2635 NR_033753.2 TGACAGAACTGAGCTTTGGAA 0.353000 93 285 0 0 0.014410 0 0 WDR81 124997 broad.mit.edu 37 17 1636853 1636853 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:1636853G>C ENST00000409644.1 + 7 4522 c.4522G>C c.(4522-4524)Gag>Cag p.E1508Q RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Missense_Mutation_p.E147Q|WDR81_ENST00000437219.2_Missense_Mutation_p.E305Q|WDR81_ENST00000419248.1_Missense_Mutation_p.E281Q|WDR81_ENST00000309182.5_Missense_Mutation_p.E457Q|WDR81_ENST00000545662.1_Missense_Mutation_p.E139Q NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 281 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCCCAACCACGAGCTGGTTGG 0.632000 75 122 0 0 0.014410 0 0 MED12L 116931 broad.mit.edu 37 3 151078367 151078367 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:151078367C>T ENST00000474524.1 + 19 2864 c.2826C>T c.(2824-2826)ctC>ctT p.L942L MED12L_ENST00000273432.4_Silent_p.L802L|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 942 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTAGCCACCTCAGAAGTAAAT 0.428000 68 173 0 0 0.014410 0 0 KCNV1 27012 broad.mit.edu 37 8 110980590 110980590 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:110980590G>A ENST00000524391.1 - 4 2262 c.1230C>T c.(1228-1230)ttC>ttT p.F410F KCNV1_ENST00000297404.1_Silent_p.F410F Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 410 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) ATATACACATGAAGGCCACGA 0.478000 39 123 0 0 0.007835 0 0 PAK2 5062 broad.mit.edu 37 3 196554193 196554193 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:196554193G>C ENST00000327134.3 + 14 1799 c.1477G>C c.(1477-1479)Gaa>Caa p.E493Q NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 493 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) TTCAGCCAAAGAATTATTACA 0.358000 41 82 0 0 0.008740 0 0 DDX51 317781 broad.mit.edu 37 12 132627321 132627321 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr12:132627321C>G ENST00000397333.3 - 3 660 c.622G>C c.(622-624)Gac>Cac p.D208H NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 208 rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) TTCTGCAGGTCAGGATGGACG 0.617000 48 93 0 0 0.014410 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122474119 122474119 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:122474119C>G ENST00000306103.2 - 5 872 c.729G>C c.(727-729)ctG>ctC p.L243L HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_3'UTR NM_024610.5 NP_078886.2 Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 243 JmjC. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) GTCCTGGGCTCAGTGTAACCG 0.448000 19 55 0 0 0.008871 0 0 NUP85 79902 broad.mit.edu 37 17 73227442 73227442 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:73227442C>T ENST00000447371.2 + 11 1022 c.598C>T c.(598-600)Ctg>Ttg p.L200L NUP85_ENST00000541827.1_Silent_p.L322L|NUP85_ENST00000245544.4_Silent_p.L368L|NUP85_ENST00000579324.1_Silent_p.L256L|NUP85_ENST00000579298.1_Silent_p.L323L|NUP85_ENST00000540768.1_5'UTR Q9BW27 NUP85_HUMAN nucleoporin 85kDa 368 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CAGCATCGCCCTGAGCAACTG 0.582000 5 191 0 0 0.003080 0 0 CREB3L1 90993 broad.mit.edu 37 11 46341831 46341831 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:46341831C>G ENST00000529193.1 + 11 1726 c.1275C>G c.(1273-1275)ctC>ctG p.L425L CREB3L1_ENST00000534616.1_3'UTR|CREB3L1_ENST00000288400.3_Silent_p.L425L Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 425 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) CCCGAAGCCTCCTATTCTACG 0.617000 T FUS myxofibrosarcoma 13 29 0 0 0.001855 0 0 LATS1 9113 broad.mit.edu 37 6 149983190 149983190 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:149983190G>C ENST00000543571.1 - 8 3615 c.3068C>G c.(3067-3069)tCt>tGt p.S1023C LATS1_ENST00000253339.5_Missense_Mutation_p.S1023C NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 1023 AGC-kinase C-terminal. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) GTATGAAGCAGACTGCTGTCT 0.388000 14 107 0 0 0.002450 0 0 FLVCR1 28982 broad.mit.edu 37 1 213032530 213032530 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:213032530C>G ENST00000366971.4 + 1 934 c.736C>G c.(736-738)Cag>Gag p.Q246E NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 246 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) GCTGGGCAATCAGGTAAGTAC 0.562000 40 112 0 0 0.010771 0 0 NOD1 10392 broad.mit.edu 37 7 30492447 30492447 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:30492447C>T ENST00000222823.4 - 6 1111 c.586G>A c.(586-588)Gag>Aag p.E196K NOD1_ENST00000423334.2_Intron NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 196 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 AAGATGGTCTCACCCTGCTCA 0.627000 42 13 0 0 0.007835 0 0 TMEM41A 90407 broad.mit.edu 37 3 185209541 185209541 + Nonstop_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:185209541C>G ENST00000296254.3 - 3 303 c.278G>C c.(277-279)tGa>tCa p.*93S TMEM41A_ENST00000421852.1_Missense_Mutation_p.L193F|TMEM41A_ENST00000475480.1_Intron Q96HV5 TM41A_HUMAN transmembrane protein 41A 0 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TATATGGGATCAAACCTGGAA 0.423000 21 52 0 0 0.014323 0 0 TSHR 7253 broad.mit.edu 37 14 81610641 81610641 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr14:81610641C>T ENST00000541158.2 + 11 2561 c.2239C>T c.(2239-2241)Cta>Tta p.L747L TSHR_ENST00000298171.2_Silent_p.L747L|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 747 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity p.L747I(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) AAACTCCCATCTAACCCCAAA 0.408000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 38 67 0 0 0.009718 0 0 KLK2 3817 broad.mit.edu 37 19 51379884 51379884 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:51379884C>G ENST00000325321.3 + 3 588 c.363C>G c.(361-363)ctC>ctG p.L121L KLK2_ENST00000358049.4_Silent_p.L121L|KLK2_ENST00000391810.2_Silent_p.L19L P20151 KLK2_HUMAN kallikrein-related peptidase 2 121 Peptidase S1. proteolysis serine-type endopeptidase activity KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) GCCATGACCTCATGCTGCTCC 0.582000 T ETV4 prostate 24 42 0 0 0.003330 0 0 PPP6R2 9701 broad.mit.edu 37 22 50854547 50854547 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr22:50854547G>A ENST00000359139.3 + 6 973 c.579G>A c.(577-579)caG>caA p.Q193Q PPP6R2_ENST00000216061.5_Silent_p.Q193Q|PPP6R2_ENST00000395741.3_Silent_p.Q193Q|PPP6R2_ENST00000395744.3_Silent_p.Q193Q NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 193 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 AGGTCATCCAGAGGCTTGTGG 0.517000 10 78 0 0 0.008291 0 0 ZBTB38 253461 broad.mit.edu 37 3 141161524 141161524 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:141161524C>G ENST00000514251.1 + 4 573 c.294C>G c.(292-294)gtC>gtG p.V98V ZBTB38_ENST00000321464.5_Silent_p.V99V|ZBTB38_ENST00000441582.2_Silent_p.V98V Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 98 BTB. positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 CAGTCGTTGTCAAGAGACAGG 0.438000 8 64 0 0 0.004482 0 0 FBLN2 2199 broad.mit.edu 37 3 13670672 13670672 + Nonsense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:13670672G>T ENST00000404922.3 + 13 2841 c.2722G>T c.(2722-2724)Gag>Tag p.E908* FBLN2_ENST00000535798.1_Nonsense_Mutation_p.E887*|FBLN2_ENST00000492059.1_Nonsense_Mutation_p.E908*|FBLN2_ENST00000295760.7_Nonsense_Mutation_p.E861* NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 904 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AGACGTGAATGAGTGTGAGAC 0.667000 16 9 1.33834e-09 1.39441e-09 0.007413 1 0 UPF2 26019 broad.mit.edu 37 10 12070767 12070767 + Silent SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr10:12070767G>C ENST00000356352.2 - 2 1595 c.1122C>G c.(1120-1122)ctC>ctG p.L374L UPF2_ENST00000357604.5_Silent_p.L374L|UPF2_ENST00000397053.2_Silent_p.L374L Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 374 MIF4G 1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) CAGTATTCTGGAGCTCCCTGT 0.373000 37 43 0 0 0.007835 0 0 PLEC 5339 broad.mit.edu 37 8 144990596 144990596 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:144990596C>G ENST00000322810.4 - 32 13973 c.13804G>C c.(13804-13806)Gag>Cag p.E4602Q PLEC_ENST00000357649.2_Missense_Mutation_p.E4469Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E4443Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E4492Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E4433Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E4465Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E4465Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E4451Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E4488Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4602 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCGGCAGCCTCCAGCAGCCGC 0.677000 57 151 0 0 0.014410 0 0 LRRC36 55282 broad.mit.edu 37 16 67405001 67405001 + Translation_Start_Site SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:67405001G>A ENST00000541146.1 + 0 593 LRRC36_ENST00000563189.1_Silent_p.L329L|LRRC36_ENST00000329956.6_Silent_p.L450L|LRRC36_ENST00000435835.3_Silent_p.L329L|LRRC36_ENST00000290940.7_Silent_p.L182L Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) TGCGGACACTGCTGTTGTCTC 0.468000 44 70 0 0 0.010771 0 0 PDE4A 5141 broad.mit.edu 37 19 10574474 10574474 + Silent SNP C C A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:10574474C>A ENST00000380702.2 + 15 1683 c.1683C>A c.(1681-1683)ctC>ctA p.L561L PDE4A_ENST00000344979.3_Silent_p.L344L|PDE4A_ENST00000592685.1_Silent_p.L561L|PDE4A_ENST00000293683.5_Silent_p.L557L|PDE4A_ENST00000352831.6_Silent_p.L583L|PDE4A_ENST00000440014.2_Silent_p.L522L P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 583 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) TGCAGGTCCTCCGGAACATGG 0.587000 33 62 1.414e-09 1.46914e-09 0.003755 1 0 SAMD8 142891 broad.mit.edu 37 10 76928341 76928341 + Silent SNP A A G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr10:76928341A>G ENST00000542569.1 + 4 820 c.717A>G c.(715-717)gtA>gtG p.V239V SAMD8_ENST00000372690.3_Silent_p.V302V|SAMD8_ENST00000372687.3_Silent_p.V239V NM_001174156.1|NM_144660.2 NP_001167627.1|NP_653261.1 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 239 sphingomyelin biosynthetic process integral to membrane NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 12 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TGGGAACTGTATTCTTGCTTC 0.458000 82 136 0 0 0.014410 0 0 TTC27 55622 broad.mit.edu 37 2 32983539 32983539 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:32983539G>C ENST00000317907.4 + 13 1864 c.1633G>C c.(1633-1635)Gag>Cag p.E545Q NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 545 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 GGAGTTTCAAGAGTGTGTAGA 0.522000 34 60 0 0 0.013726 0 0 MED12L 116931 broad.mit.edu 37 3 151072985 151072985 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:151072985C>G ENST00000474524.1 + 16 2408 c.2370C>G c.(2368-2370)ctC>ctG p.L790L MED12L_ENST00000273432.4_Silent_p.L650L|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 790 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCACTAAACTCCAGCTCCTTT 0.358000 32 63 0 0 0.008361 0 0 ZNF106 64397 broad.mit.edu 37 15 42743875 42743875 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:42743875G>C ENST00000263805.4 - 2 852 c.526C>G c.(526-528)Cac>Gac p.H176D ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 CTATGGTTGTGAAACCAAGTC 0.468000 34 77 0 0 0.003271 0 0 COL9A2 1298 broad.mit.edu 37 1 40775622 40775622 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:40775622C>G ENST00000372748.3 - 16 930 c.834G>C c.(832-834)gaG>gaC p.E278D NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 278 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CGTCACCCTTCTCCCCAGCTC 0.622000 50 81 0 0 0.014410 0 0 BCAN 63827 broad.mit.edu 37 1 156626846 156626846 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:156626846C>G ENST00000329117.4 + 10 2503 c.2167C>G c.(2167-2169)Ctg>Gtg p.L723V BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 723 C-type lectin. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGGCGCGCATCTGGCCAGCAT 0.637000 29 86 0 0 0.009535 0 0 OCRL 4952 broad.mit.edu 37 X 128692624 128692624 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chrX:128692624G>C ENST00000371113.4 + 7 619 c.454G>C c.(454-456)Gaa>Caa p.E152Q OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.E152Q NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 152 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 TCTTGGATTTGAAGACAATTT 0.408000 3 52 0 0 0.009096 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236757 33236757 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:33236757C>G ENST00000401073.2 + 6 2047 c.1977C>G c.(1975-1977)gtC>gtG p.V659V KIAA1522_ENST00000373481.3_Silent_p.V611V|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Silent_p.V600V NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 600 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) ACAGGTTTGTCATACCTCCTC 0.632000 80 103 0 0 0.014410 0 0 MARK4 57787 broad.mit.edu 37 19 45783693 45783693 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:45783693G>A ENST00000300843.4 + 11 1365 c.1068G>A c.(1066-1068)aaG>aaA p.K356K MARK4_ENST00000262891.4_Silent_p.K356K NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 356 UBA. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCAGCCAGAAGTACAACGAAG 0.607000 67 125 0 0 0.014410 0 0 PARD6G 84552 broad.mit.edu 37 18 77960666 77960666 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr18:77960666G>A ENST00000353265.3 - 2 419 c.222C>T c.(220-222)atC>atT p.I74I AC139100.3_ENST00000588950.1_RNA|PARD6G_ENST00000470488.2_Silent_p.I74I NM_032510.3 NP_115899.1 Q9BYG4 PAR6G_HUMAN par-6 family cell polarity regulator gamma 74 OPR. cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) CATCATTGTTGATGGGCAGCA 0.493000 6 108 0 0 0.001168 0 0 PLVAP 83483 broad.mit.edu 37 19 17487789 17487789 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:17487789C>G ENST00000252590.4 - 1 370 c.309G>C c.(307-309)ctG>ctC p.L103L NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 103 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGCGAGCATTCAGCCACATCT 0.622000 10 59 0 0 0.008291 0 0 ZNF347 84671 broad.mit.edu 37 19 53643671 53643671 + Missense_Mutation SNP T T C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:53643671T>C ENST00000452676.2 - 5 2839 c.2413A>G c.(2413-2415)Agc>Ggc p.S805G ZNF347_ENST00000334197.7_Missense_Mutation_p.S804G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.S805G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 804 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GTAGTTAGGCTTGAACAGATA 0.418000 66 101 0 0 0.014410 0 0 KLHL12 59349 broad.mit.edu 37 1 202864773 202864773 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:202864773C>T ENST00000367261.3 - 8 1230 c.1012G>A c.(1012-1014)Gat>Aat p.D338N KLHL12_ENST00000367259.1_Missense_Mutation_p.D71N|KLHL12_ENST00000435533.3_Missense_Mutation_p.D376N NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 338 Wnt receptor signaling pathway protein binding NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) GAACGGCCATCATAGCCACCA 0.507000 24 69 0 0 0.006320 0 0 MUC17 140453 broad.mit.edu 37 7 100679095 100679095 + Silent SNP G G C rs149059191 byFrequency TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:100679095G>C ENST00000306151.4 + 3 4462 c.4398G>C c.(4396-4398)ccG>ccC p.P1466P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1466 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCAACACGCCGGTGGCCAATT 0.478000 161 432 0 0 0.014410 0 0 STAM 8027 broad.mit.edu 37 10 17737124 17737124 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr10:17737124C>T ENST00000377524.3 + 7 827 c.612C>T c.(610-612)ctC>ctT p.L204L STAM_ENST00000540523.1_Silent_p.L93L NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 204 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 CATCCAGTCTCTTAACTAACC 0.388000 30 51 0 0 0.003755 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529368 5529368 + Missense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:5529368G>T ENST00000311659.4 - 2 1568 c.1421C>A c.(1420-1422)cCt>cAt p.P474H HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 474 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGCCAGGGAGGCTCAGGGAT 0.552000 29 18 3.65163e-15 3.89159e-15 0.006320 1 0 GCNT2 2651 broad.mit.edu 37 6 10556812 10556812 + Silent SNP C C T rs55823251 TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:10556812C>T ENST00000316170.3 + 1 573 c.156C>T c.(154-156)atC>atT p.I52I GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 53 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) CATCTTTTATCAATGGAAAAA 0.418000 45 30 0 0 0.014410 0 0 FAM63A 55793 broad.mit.edu 37 1 150972984 150972984 + Silent SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:150972984G>C ENST00000361936.5 - 6 1638 c.684C>G c.(682-684)gtC>gtG p.V228V FAM63A_ENST00000361738.6_Silent_p.V276V|FAM63A_ENST00000493834.2_Silent_p.V133V|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Silent_p.V86V NM_018379.4 NP_060849.2 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 228 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCAGGTCAAAGACACTGCACT 0.527000 45 112 0 0 0.013114 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40268942 40268942 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:40268942G>A ENST00000263791.5 + 12 2189 c.2146G>A c.(2146-2148)Gag>Aag p.E716K EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E716K NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 716 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CACTTCGGGCGAGCGCTCGGC 0.716000 36 62 0 0 0.004878 0 0 EPHB3 2049 broad.mit.edu 37 3 184298534 184298534 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:184298534C>T ENST00000330394.2 + 13 2858 c.2406C>T c.(2404-2406)atC>atT p.I802I EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 802 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) AGATCCCCATCCGCTGGACTG 0.642000 15 76 0 0 0.004990 0 0 RBM12 10137 broad.mit.edu 37 20 34242517 34242517 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr20:34242517C>T ENST00000374114.3 - 3 991 c.728G>A c.(727-729)gGc>gAc p.G243D CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.G243D|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.G243D|CPNE1_ENST00000352393.4_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 243 Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GGGCGGCATGCCCGACATGGG 0.552000 4 128 0 0 0.009096 0 0 OR14A16 284532 broad.mit.edu 37 1 247978846 247978846 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:247978846C>T ENST00000357627.1 - 1 185 c.186G>A c.(184-186)aaG>aaA p.K62K NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 AAGATAGATTCTTCAAGAAGA 0.418000 23 62 0 0 0.012319 0 0 LRRC30 339291 broad.mit.edu 37 18 7231387 7231387 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr18:7231387G>A ENST00000383467.2 + 1 265 c.251G>A c.(250-252)cGg>cAg p.R84Q NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 84 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 AACCAGCTCCGGGTTCTCCCT 0.587000 23 45 0 0 0.002780 0 0 OCA2 4948 broad.mit.edu 37 15 28211914 28211914 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:28211914G>A ENST00000354638.3 - 15 1713 c.1558C>T c.(1558-1560)Ctc>Ttc p.L520F OCA2_ENST00000382996.2_Missense_Mutation_p.L520F|OCA2_ENST00000353809.5_Missense_Mutation_p.L496F NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 520 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 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) CAGACCAGGAGAACAAGGCAA 0.483000 Oculocutaneous Albinism 13 23 0 0 0.013537 0 0 TAPBP 6892 broad.mit.edu 37 6 33272808 33272808 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:33272808G>A ENST00000434618.2 - 4 1171 c.826C>T c.(826-828)Cca>Tca p.P276S TAPBP_ENST00000475304.1_Missense_Mutation_p.P294S|TAPBP_ENST00000489157.1_Missense_Mutation_p.P189S|TAPBP_ENST00000456592.2_Missense_Mutation_p.P276S|TAPBP_ENST00000426633.2_Missense_Mutation_p.P276S NM_003190.4|NM_172209.2 NP_003181.3|NP_757346.2 O15533 TPSN_HUMAN TAP binding protein (tapasin) 276 antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 TGCAGGTATGGCAGGTGTATG 0.587000 108 138 0 0 0.014410 0 0 OR6N1 128372 broad.mit.edu 37 1 158735618 158735618 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:158735618G>A ENST00000335094.2 - 1 874 c.855C>T c.(853-855)ctC>ctT p.L285L NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) TGAAGGGGTTGAGGAAGGGTG 0.517000 72 200 0 0 0.014410 0 0 PIAS3 10401 broad.mit.edu 37 1 145581458 145581458 + Nonsense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:145581458C>T ENST00000393045.2 + 9 1129 c.1039C>T c.(1039-1041)Cag>Tag p.Q347* PIAS3_ENST00000369298.1_Nonsense_Mutation_p.Q312* NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 347 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGCCCACCTGCAGAGCTTCGA 0.507000 89 74 0 0 0.014410 0 0 ABRA 137735 broad.mit.edu 37 8 107782023 107782023 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:107782023C>T ENST00000311955.3 - 1 450 c.396G>A c.(394-396)gaG>gaA p.E132E NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 132 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) CAGCATCCCTCTCGTACCTGT 0.542000 62 155 0 0 0.014410 0 0 ATP10B 23120 broad.mit.edu 37 5 160049574 160049574 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr5:160049574C>G ENST00000327245.5 - 14 2485 c.1639G>C c.(1639-1641)Gat>Cat p.D547H CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 547 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGTTTTTATCTGGAGTTACA 0.507000 45 65 0 0 0.014410 0 0 HSPA2 3306 broad.mit.edu 37 14 65008483 65008483 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr14:65008483G>C ENST00000247207.6 + 1 1298 c.916G>C c.(916-918)Gag>Cag p.E306Q HSPA2_ENST00000394709.1_Missense_Mutation_p.E306Q NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 306 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CGCCCGCTTCGAGGAGCTCAA 0.652000 10 19 0 0 0.008291 0 0 GTPBP6 8225 broad.mit.edu 37 X 221851 221851 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chrX:221851C>T ENST00000326153.4 - 6 753 c.754G>A c.(754-756)Gag>Aag p.E252K O43824 GTPB6_HUMAN GTP binding protein 6 (putative) 481 intracellular GTP binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) ACTGTGGCCTCCTTATACAGC 0.512000 37 12 0 0 0.007835 0 0 GOLGA3 2802 broad.mit.edu 37 12 133350895 133350895 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr12:133350895C>T ENST00000204726.3 - 23 4713 c.4155G>A c.(4153-4155)ccG>ccA p.P1385P GOLGA3_ENST00000450791.2_Silent_p.P1385P NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1385 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CCTCGCCTTTCGGCTCCTTTC 0.617000 28 49 0 0 0.009535 0 0 OR2B6 26212 broad.mit.edu 37 6 27925541 27925541 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:27925541G>A ENST00000244623.1 + 1 523 c.523G>A c.(523-525)Gat>Aat p.D175N NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 175 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 CTATGTGATAGATCACTTTCT 0.483000 51 39 0 0 0.014410 0 0 KHDC1 80759 broad.mit.edu 37 6 73951446 73951446 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:73951446C>G ENST00000370384.3 - 5 1020 c.520G>C c.(520-522)Gag>Cag p.E174Q KHDC1_ENST00000257765.5_Missense_Mutation_p.E101Q|RP11-257K9.8_ENST00000423730.3_Intron NM_001251874.1 NP_001238803.1 Q4VXA5 KHDC1_HUMAN KH homology domain containing 1 174 integral to membrane RNA binding large_intestine(1)|lung(4)|skin(1) 6 TCCAGCATCTCCAGGCCTGCA 0.582000 27 35 0 0 0.007291 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736827 140736827 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr5:140736827C>T ENST00000571252.1 + 1 2060 c.2060C>T c.(2059-2061)tCg>tTg p.S687L PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGACGACTCGGGCCTCACA 0.617000 25 40 0 0 0.012213 0 0 MZF1 7593 broad.mit.edu 37 19 59080894 59080894 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:59080894C>G ENST00000215057.2 - 4 1200 c.640G>C c.(640-642)Gag>Cag p.E214Q AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.E214Q|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E214Q|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E214Q NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 214 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) TGGGCCTCCTCAGGCAGGAGG 0.597000 30 45 0 0 0.013726 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532000 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) 36 8 0 0 0.005524 0 0 DNAAF1 123872 broad.mit.edu 37 16 84209596 84209596 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:84209596G>A ENST00000378553.5 + 11 1880 c.1756G>A c.(1756-1758)Gaa>Aaa p.E586K DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 586 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 CAGTGACCCTGAACTGGACTA 0.453000 OREG0023983 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 69 0 0 0.010771 0 0 PMS2 5395 broad.mit.edu 37 7 6029573 6029573 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:6029573G>C ENST00000265849.7 - 10 1107 c.1002C>G c.(1000-1002)atC>atG p.I334M PMS2_ENST00000406569.3_Missense_Mutation_p.I334M|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.I228M NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 334 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GAGTAACATTGATATCAACGC 0.289000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 36 35 0 0 0.005524 0 0 EML5 161436 broad.mit.edu 37 14 89192964 89192964 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr14:89192964G>C ENST00000554922.1 - 8 1356 c.1108C>G c.(1108-1110)Cgt>Ggt p.R370G EML5_ENST00000380664.5_Missense_Mutation_p.R370G|EML5_ENST00000352093.5_Missense_Mutation_p.R370G NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 370 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GCTGCACAACGAATTGGTTCT 0.368000 3 14 0 0 0.004672 0 0 DGCR5 26220 broad.mit.edu 37 22 18979430 18979430 + RNA SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr22:18979430G>C ENST00000438934.1 + 0 2781 DGCR5_ENST00000440005.2_RNA CGTCCTGGTGGAGTTCACCCT 0.577000 16 22 0 0 0.004990 0 0 IFNGR1 3459 broad.mit.edu 37 6 137540429 137540429 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:137540429C>G ENST00000367739.4 - 1 157 c.36G>C c.(34-36)caG>caC p.Q12H IFNGR1_ENST00000367735.2_5'UTR|IFNGR1_ENST00000478333.1_5'UTR NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 12 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) TGCTCACACCCTGCATGACAA 0.692000 12 21 0 0 0.007413 0 0 TMEM40 55287 broad.mit.edu 37 3 12777058 12777058 + Silent SNP C C A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:12777058C>A ENST00000314124.7 - 11 1034 c.678G>T c.(676-678)ctG>ctT p.L226L TMEM40_ENST00000264728.8_Silent_p.L226L|TMEM40_ENST00000435218.2_Silent_p.L196L|TMEM40_ENST00000435575.1_Silent_p.L150L|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000431022.2_Silent_p.L242L NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 226 integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 AGTTACCTGTCAGCCTAAACT 0.453000 7 69 2.74318e-10 2.87417e-10 0.006214 1 0 MOAP1 64112 broad.mit.edu 37 14 93650551 93650551 + Missense_Mutation SNP T T C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr14:93650551T>C ENST00000556883.1 - 2 521 c.37A>G c.(37-39)Atg>Gtg p.M13V MOAP1_ENST00000298894.4_Missense_Mutation_p.M13V Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 13 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) ttcatgtccatccccctgcac 0.507000 5 169 0 0 0.001984 0 0 LHFPL5 222662 broad.mit.edu 37 6 35773513 35773513 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:35773513G>A ENST00000360215.1 + 1 443 c.66G>A c.(64-66)tcG>tcA p.S22S LHFPL5_ENST00000373853.1_Silent_p.S22S NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 22 integral to membrane p.S22S(1) endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 TGCGGAACTCGCGAGCCGTGG 0.617000 30 122 0 0 0.009535 0 0 DLG2 1740 broad.mit.edu 37 11 84245714 84245714 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:84245714C>G ENST00000398309.2 - 2 573 c.103G>C c.(103-105)Gaa>Caa p.E35Q DLG2_ENST00000532653.1_Missense_Mutation_p.E35Q|DLG2_ENST00000376104.2_Missense_Mutation_p.E140Q|DLG2_ENST00000524982.1_Missense_Mutation_p.E35Q|DLG2_ENST00000543673.1_Missense_Mutation_p.E140Q NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 35 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CCTCTTACTTCGTGGGTTAGT 0.398000 47 83 0 0 0.014410 0 0 EVI2B 2124 broad.mit.edu 37 17 29632227 29632227 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:29632227G>C ENST00000330927.4 - 2 555 c.401C>G c.(400-402)tCt>tGt p.S134C NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.S134C|EVI2B_ENST00000544462.1_Missense_Mutation_p.S149C NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 134 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TTGTGTGGTAGAAGTACGGGC 0.448000 127 216 0 0 0.014410 0 0 LACE1 246269 broad.mit.edu 37 6 108616315 108616315 + Missense_Mutation SNP T T C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:108616315T>C ENST00000368977.4 + 1 218 c.32T>C c.(31-33)cTg>cCg p.L11P NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 11 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) TTGGTTACCCTGCGCCCCTTA 0.617000 3 49 0 0 0.004672 0 0 PLA2G15 23659 broad.mit.edu 37 16 68293433 68293433 + Missense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:68293433G>T ENST00000219345.5 + 6 1195 c.1112G>T c.(1111-1113)tGc>tTc p.C371F PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000444212.2_Missense_Mutation_p.C171F|PLA2G15_ENST00000413021.2_Missense_Mutation_p.C277F|RP11-96D1.7_ENST00000563175.1_RNA NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV 371 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 GCCCTGCAGTGCCAGGCCTGG 0.587000 21 40 2.89027e-11 3.0627e-11 0.014323 1 0 IGSF10 285313 broad.mit.edu 37 3 151155347 151155347 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:151155347C>G ENST00000282466.3 - 6 7001 c.7002G>C c.(7000-7002)ctG>ctC p.L2334L IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2334 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCGGTCTTCTCAGCATTTCCA 0.448000 67 178 0 0 0.014410 0 0 MYL9 10398 broad.mit.edu 37 20 35173441 35173441 + Nonsense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr20:35173441G>T ENST00000279022.2 + 2 258 c.154G>T c.(154-156)Gag>Tag p.E52* MYL9_ENST00000346786.2_Nonsense_Mutation_p.E52*|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA NM_006097.4 NP_006088.2 P24844 MYL9_HUMAN myosin, light chain 9, regulatory 52 EF-hand 1. axon guidance|muscle contraction|regulation of muscle contraction cytosol|muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(3)|lung(2) 8 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CATTGACAAGGAGGACCTGCA 0.542000 13 74 3.41278e-10 3.56574e-10 0.004990 1 0 CCSAP 126731 broad.mit.edu 37 1 229478177 229478177 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:229478177C>T ENST00000284617.2 - 2 160 c.36G>A c.(34-36)atG>atA p.M12I CCSAP_ENST00000452552.1_Missense_Mutation_p.M12I|CCSAP_ENST00000366687.1_Missense_Mutation_p.M12I|CCSAP_ENST00000483092.1_5'UTR NM_145257.3 NP_660300.3 centriole, cilia and spindle-associated protein GGTAGCGCTTCATGTACTCGC 0.726000 10 32 0 0 0.001855 0 0 PRSS36 146547 broad.mit.edu 37 16 31153248 31153248 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:31153248C>G ENST00000268281.4 - 11 1613 c.1555G>C c.(1555-1557)Gag>Cag p.E519Q PRSS36_ENST00000569305.1_Missense_Mutation_p.E514Q|PRSS36_ENST00000418068.2_Missense_Mutation_p.E519Q NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 519 Peptidase S1 2. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 CAGGTCCCCTCCTCCTGGCAC 0.557000 46 89 0 0 0.014410 0 0 ZNF559 84527 broad.mit.edu 37 19 9453221 9453221 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:9453221C>G ENST00000393883.2 + 6 1742 c.1094C>G c.(1093-1095)tCt>tGt p.S365C ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.S365C|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.S285C|ZNF559_ENST00000587557.1_Missense_Mutation_p.S429C NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 365 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TTTGCTAACTCTTCACATCTT 0.378000 13 23 0 0 0.013537 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857426 9857426 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:9857426G>A ENST00000396573.2 - 14 4284 c.3975C>T c.(3973-3975)taC>taT p.Y1325Y GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.Y1325Y|GRIN2A_ENST00000396575.2_Silent_p.Y1325Y NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1325 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.Y1325Y(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACAGGCTGCCGTAAAAATTTC 0.527000 56 86 0 0 0.014410 0 0 FXYD5 53827 broad.mit.edu 37 19 35646421 35646421 + Translation_Start_Site SNP C C A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:35646421C>A ENST00000342879.3 + 0 746 FXYD5_ENST00000392218.2_Intron|FXYD5_ENST00000541435.2_Intron|FXYD5_ENST00000590686.1_Intron|FXYD5_ENST00000588699.1_Intron|FXYD5_ENST00000543307.1_Intron|FXYD5_ENST00000392219.2_Intron|FXYD5_ENST00000423817.3_Intron Q96DB9 FXYD5_HUMAN FXYD domain containing ion transport regulator 5 microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) TCACTGACATCATGGCTGACC 0.627000 12 51 7.03913e-09 7.27311e-09 0.013537 1 0 TRIB1 10221 broad.mit.edu 37 8 126445719 126445719 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:126445719G>A ENST00000311922.3 + 2 1103 c.521G>A c.(520-522)cGg>cAg p.R174Q TRIB1_ENST00000520847.1_Missense_Mutation_p.R8Q|TRIB1_ENST00000521778.1_3'UTR NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 174 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) GTGCGAAGCCGGAAGAGGCTG 0.572000 94 202 0 0 0.014410 0 0 PUF60 22827 broad.mit.edu 37 8 144902849 144902849 + Nonsense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:144902849G>C ENST00000526683.1 - 5 890 c.335C>G c.(334-336)tCa>tGa p.S112* PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Nonsense_Mutation_p.S83*|PUF60_ENST00000527197.1_Intron|PUF60_ENST00000453551.2_Nonsense_Mutation_p.S69*|PUF60_ENST00000349157.6_Intron|PUF60_ENST00000313352.7_Intron NM_001271098.1|NM_078480.1 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 112 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TTGCAAAGGTGAGAGAGGATC 0.547000 78 246 0 0 0.014410 0 0 ZNF106 64397 broad.mit.edu 37 15 42743329 42743329 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:42743329G>A ENST00000263805.4 - 2 1398 c.1072C>T c.(1072-1074)Ctg>Ttg p.L358L ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TGTAAATCCAGAGTCTTCTGA 0.438000 49 63 0 0 0.014410 0 0 CFB 629 broad.mit.edu 37 6 31915793 31915793 + Missense_Mutation SNP T T A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:31915793T>A ENST00000556679.1 + 18 2393 c.2338T>A c.(2338-2340)Tca>Aca p.S780T CFB_ENST00000456570.1_Missense_Mutation_p.S780T|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.S629T|CFB_ENST00000425368.2_Missense_Mutation_p.S278T P00751 CFAB_HUMAN complement factor B 278 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GCTAGATGGATCAGACAGCAT 0.537000 30 42 0 0 0.007291 0 0 RBAK 57786 broad.mit.edu 37 7 5112576 5112576 + Missense_Mutation SNP G G C rs140476131 TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:5112576G>C ENST00000407184.1 + 8 725 c.459G>C c.(457-459)gaG>gaC p.E153D RBAK_ENST00000498308.1_3'UTR|RBAK_ENST00000396904.2_3'UTR Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 0 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) CGGAGACGGAGAGCTGCGGGC 0.657000 32 99 0 0 0.004878 0 0 GPR39 2863 broad.mit.edu 37 2 133402856 133402856 + Missense_Mutation SNP T T G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:133402856T>G ENST00000329321.3 + 2 1508 c.1039T>G c.(1039-1041)Tcc>Gcc p.S347A GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 347 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTACACGGTGTCCTCGCAGCA 0.622000 23 72 0 0 0.006320 0 0 AP4E1 23431 broad.mit.edu 37 15 51233943 51233943 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:51233943G>C ENST00000261842.5 + 10 1253 c.1147G>C c.(1147-1149)Gat>Cat p.D383H AP4E1_ENST00000560508.1_Missense_Mutation_p.D308H NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 383 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TGAATGTTTAGATCATCCTGA 0.333000 14 38 0 0 0.001855 0 0 ZNF697 90874 broad.mit.edu 37 1 120165544 120165544 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:120165544G>A ENST00000421812.2 - 3 1541 c.1422C>T c.(1420-1422)ttC>ttT p.F474F NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) AGAAGTCGCTGAAGCGCTTCT 0.647000 14 9 0 0 0.001855 0 0 CFAP54 144535 broad.mit.edu 37 12 97102560 97102560 + Missense_Mutation SNP C C A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr12:97102560C>A ENST00000524981.3 + 15 2056 c.2056C>A c.(2056-2058)Cca>Aca p.P686T Q6ZTY8 CL063_HUMAN 660 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CAAGAGCAAACCAAACCTACC 0.348000 20 41 1.01871e-10 1.07339e-10 0.008871 1 0 ANAPC5 51433 broad.mit.edu 37 12 121756175 121756175 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr12:121756175C>T ENST00000261819.3 - 15 1919 c.1798G>A c.(1798-1800)Gcg>Acg p.A600T ANAPC5_ENST00000535482.1_Missense_Mutation_p.A266T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A488T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A488T|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A587T NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 600 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATGGGCAGCGCGATGGTAGGG 0.552000 33 47 0 0 0.009535 0 0 JAG2 3714 broad.mit.edu 37 14 105609974 105609974 + Splice_Site SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr14:105609974G>C ENST00000331782.3 - 25 3489 c.3084_splice c.e25-1 p.S1029_splice JAG2_ENST00000347004.2_Splice_Site_p.S991_splice NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 1029 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) AGGGCTGAAGGACTGCGGCAA 0.682000 5 60 0 0 0.001168 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34835329 34835329 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:34835329G>A ENST00000192788.5 + 17 3825 c.3654G>A c.(3652-3654)gaG>gaA p.E1218E UHRF1BP1_ENST00000452449.2_Silent_p.E1218E NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 1218 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TGCAAGCAGAGGAACTGACCC 0.547000 40 89 0 0 0.006999 0 0 IFT80 57560 broad.mit.edu 37 3 159995223 159995223 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr3:159995223G>C ENST00000326448.7 - 18 2402 c.1970C>G c.(1969-1971)tCt>tGt p.S657C IFT80_ENST00000483465.1_Missense_Mutation_p.S520C|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S828C|IFT80_ENST00000496589.1_Missense_Mutation_p.S520C NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 657 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGATTCTTTAGATGGAAGATT 0.318000 24 61 0 0 0.003954 0 0 VPS13C 54832 broad.mit.edu 37 15 62161820 62161820 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:62161820C>T ENST00000261517.5 - 80 10700 c.10627G>A c.(10627-10629)Gcc>Acc p.A3543T VPS13C_ENST00000249837.3_Missense_Mutation_p.A3500T|VPS13C_ENST00000395898.3_Missense_Mutation_p.A3500T|VPS13C_ENST00000395896.4_Missense_Mutation_p.A3543T NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3543 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TCCTTTTTGGCACCTTCAGAA 0.443000 4 132 0 0 0.009096 0 0 CABIN1 23523 broad.mit.edu 37 22 24483645 24483645 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr22:24483645G>A ENST00000398319.2 + 23 3889 c.3504G>A c.(3502-3504)ctG>ctA p.L1168L CABIN1_ENST00000405822.2_Silent_p.L1118L|CABIN1_ENST00000263119.5_Silent_p.L1168L NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1168 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GAGGCGAGCTGCCCCCTGAGC 0.567000 54 63 0 0 0.014410 0 0 MTRF1L 54516 broad.mit.edu 37 6 153311053 153311053 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:153311053C>G ENST00000367233.5 - 7 1119 c.1120G>C c.(1120-1122)Gaa>Caa p.E374Q MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_3'UTR|MTRF1L_ENST00000367230.1_3'UTR NM_019041.5 NP_061914.3 Q9UGC7 RF1ML_HUMAN mitochondrial translational release factor 1-like 374 mitochondrion translation release factor activity, codon specific endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888) GAAATAATTTCTACTAAAGAT 0.333000 37 80 0 0 0.014410 0 0 HBZ 3050 broad.mit.edu 37 16 202962 202962 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:202962C>T ENST00000252951.2 + 1 277 c.54C>T c.(52-54)atC>atT p.I18I NM_005332.2 NP_005323.1 P02008 HBAZ_HUMAN hemoglobin, zeta 18 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) GGGCCAAGATCTCCACGCAGG 0.622000 17 36 0 0 0.007413 0 0 RNF31 55072 broad.mit.edu 37 14 24617533 24617533 + Nonsense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr14:24617533G>T ENST00000324103.6 + 3 726 c.406G>T c.(406-408)Gaa>Taa p.E136* RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000557878.1_3'UTR NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 136 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GAGCTTCCCCGAAGGGCAGGA 0.567000 14 38 7.93312e-07 8.17418e-07 0.002450 1 0 TNFRSF12A 51330 broad.mit.edu 37 16 3071626 3071626 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:3071626C>T ENST00000575124.1 + 2 456 c.433C>T c.(433-435)Cgt>Tgt p.R145C TNFRSF12A_ENST00000573001.1_Silent_p.F41F|TNFRSF12A_ENST00000341627.5_Silent_p.F55F|TNFRSF12A_ENST00000326577.4_Silent_p.F90F Q9NP84 TNR12_HUMAN tumor necrosis factor receptor superfamily, member 12A 0 angiogenesis|apoptosis integral to membrane receptor activity lung(1)|skin(1) 2 GCCTGACCTTCGTGCTGGGGC 0.652000 OREG0023566 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 41 0 0 0.008361 0 0 DHX34 9704 broad.mit.edu 37 19 47884111 47884111 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:47884111C>G ENST00000328771.4 + 15 3370 c.3021C>G c.(3019-3021)gtC>gtG p.V1007V NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 1007 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GGCTAGAAGTCCAGAACATGT 0.597000 30 44 0 0 0.008361 0 0 PIAS3 10401 broad.mit.edu 37 1 145581457 145581457 + Silent SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:145581457G>T ENST00000393045.2 + 9 1128 c.1038G>T c.(1036-1038)ctG>ctT p.L346L PIAS3_ENST00000369298.1_Silent_p.L311L NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 346 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCGCCCACCTGCAGAGCTTCG 0.507000 90 73 2.01383e-38 2.17727e-38 0.014410 1 0 ITCH 83737 broad.mit.edu 37 20 33001680 33001680 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr20:33001680C>T ENST00000374864.4 + 6 683 c.470C>T c.(469-471)tCa>tTa p.S157L ITCH_ENST00000262650.6_Missense_Mutation_p.S157L|ITCH_ENST00000535650.1_Missense_Mutation_p.S47L NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 157 apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 ACTACATGTTCAGAAAGTAAG 0.328000 22 28 0 0 0.003954 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200818403 200818403 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:200818403G>C ENST00000358823.2 + 11 2776 c.2506G>C c.(2506-2508)Gat>Cat p.D836H CAMSAP2_ENST00000236925.4_Missense_Mutation_p.D847H|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.D820H NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 847 cytoplasm|microtubule protein binding GTCACTGGCAGATATAAAAGA 0.453000 48 153 0 0 0.014410 0 0 TRIM43 129868 broad.mit.edu 37 2 96260159 96260159 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:96260159G>C ENST00000272395.2 + 2 524 c.388G>C c.(388-390)Gaa>Caa p.E130Q NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 130 intracellular zinc ion binding breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 CCATCCCATCGAAGAGGCAGC 0.488000 37 53 0 0 0.004878 0 0 SKI 6497 broad.mit.edu 37 1 2160775 2160775 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:2160775C>T ENST00000378536.4 + 1 642 c.570C>T c.(568-570)ctC>ctT p.L190L NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 190 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) ACGCGCTGCTCTACGGCGGCG 0.692000 4 10 0 0 0.000602 0 0 NLRC4 58484 broad.mit.edu 37 2 32476577 32476577 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:32476577G>A ENST00000404025.2 - 5 844 c.356C>T c.(355-357)cCc>cTc p.P119L NLRC4_ENST00000360906.5_Missense_Mutation_p.P119L|NLRC4_ENST00000402280.1_Missense_Mutation_p.P119L|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 119 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTCACCAAGGGGATAAAAGTT 0.433000 27 40 0 0 0.004656 0 0 FAM83B 222584 broad.mit.edu 37 6 54792428 54792428 + Nonsense_Mutation SNP C C A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:54792428C>A ENST00000306858.7 + 4 848 c.732C>A c.(730-732)taC>taA p.Y244* NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 244 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) ACGGTTCTTACAGGTAAGATC 0.299000 44 83 2.74695e-27 2.96131e-27 0.014410 1 0 TRMT13 54482 broad.mit.edu 37 1 100613702 100613702 + Missense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:100613702G>T ENST00000370141.2 + 10 1076 c.1070G>T c.(1069-1071)gGa>gTa p.G357V NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) CTAGGCCTTGGAGCAGTGGAA 0.458000 19 39 1.96292e-10 2.06245e-10 0.010504 1 0 SULF1 23213 broad.mit.edu 37 8 70539481 70539481 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:70539481G>C ENST00000260128.4 + 16 2604 c.1887G>C c.(1885-1887)gaG>gaC p.E629D SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.E629D|SULF1_ENST00000458141.2_Missense_Mutation_p.E629D|SULF1_ENST00000402687.4_Missense_Mutation_p.E629D NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 629 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TCCATTGTGAGAGAGAACTGT 0.388000 8 64 0 0 0.006214 0 0 SOGA1 140710 broad.mit.edu 37 20 35444081 35444081 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr20:35444081C>T ENST00000237536.4 - 5 2105 c.1764G>A c.(1762-1764)aaG>aaA p.K588K SOGA1_ENST00000357779.3_Silent_p.K350K|SOGA1_ENST00000279034.5_Silent_p.K350K|SOGA1_ENST00000456801.2_Silent_p.K191K NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 350 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 ACTGCAGCTTCTTGACCTTGC 0.647000 6 9 0 0 0.001168 0 0 PROK1 84432 broad.mit.edu 37 1 110998955 110998955 + Missense_Mutation SNP G G C rs148436202 TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:110998955G>C ENST00000271331.3 + 3 317 c.300G>C c.(298-300)ttG>ttC p.L100F NM_032414.2 NP_115790.1 P58294 PROK1_HUMAN prokineticin 1 100 angiogenesis|positive regulation of cell division extracellular region growth factor activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135) CCATGGACTTGAAGAACATCA 0.537000 9 94 0 0 0.004482 0 0 ARMC4 55130 broad.mit.edu 37 10 28151529 28151529 + Missense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr10:28151529G>T ENST00000305242.5 - 18 2725 c.2633C>A c.(2632-2634)tCc>tAc p.S878Y ARMC4_ENST00000545014.1_Missense_Mutation_p.S403Y|ARMC4_ENST00000537576.1_Missense_Mutation_p.S570Y NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 878 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ACCAACAAAGGAACGAACCAT 0.348000 15 17 4.7546e-09 4.9263e-09 0.004007 1 0 TRBV7-7 28591 broad.mit.edu 37 7 142120047 142120047 + RNA SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:142120047G>C ENST00000390377.1 - 0 119 GATCACACCTGAGAGTTACAT 0.478000 21 40 0 0 0.012319 0 0 WDR81 124997 broad.mit.edu 37 17 1636020 1636020 + Missense_Mutation SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:1636020G>A ENST00000409644.1 + 6 4384 c.4384G>A c.(4384-4386)Gat>Aat p.D1462N RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Missense_Mutation_p.D101N|WDR81_ENST00000437219.2_Missense_Mutation_p.D259N|WDR81_ENST00000419248.1_Missense_Mutation_p.D235N|WDR81_ENST00000309182.5_Missense_Mutation_p.D411N|WDR81_ENST00000545662.1_Missense_Mutation_p.D93N NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 235 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGTCTTCTCTGATGGGCAGCA 0.642000 14 26 0 0 0.003163 0 0 CD101 9398 broad.mit.edu 37 1 117554213 117554213 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:117554213C>G ENST00000256652.4 + 3 524 c.466C>G c.(466-468)Ctc>Gtc p.L156V CD101_ENST00000369470.1_Missense_Mutation_p.L156V NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 156 Ig-like C2-type 2. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTCTCAGACTCTCGGTAAGGA 0.512000 39 73 0 0 0.008740 0 0 CNGB3 54714 broad.mit.edu 37 8 87645092 87645092 + Missense_Mutation SNP C C T rs147876778 byFrequency TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:87645092C>T ENST00000320005.5 - 11 1255 c.1208G>A c.(1207-1209)cGa>cAa p.R403Q NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 403 R -> Q (in macular degeneration). signal transduction|visual perception integral to membrane cGMP binding p.R403P(1)|p.R403L(1) 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 AATTAAAGTTCGAACTGCCCA 0.328000 18 42 0 0 0.007413 0 0 KRT27 342574 broad.mit.edu 37 17 38935781 38935781 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:38935781C>T ENST00000301656.3 - 5 985 c.945G>A c.(943-945)gaG>gaA p.E315E NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 315 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) GAAGTTCAATCTCAAGGGTTT 0.453000 25 255 0 0 0.008361 0 0 KCNC2 3747 broad.mit.edu 37 12 75601539 75601539 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr12:75601539G>A ENST00000549446.1 - 2 905 c.225C>T c.(223-225)ggC>ggT p.G75G KCNC2_ENST00000393288.2_Silent_p.G75G|KCNC2_ENST00000540018.1_Silent_p.G75G|KCNC2_ENST00000341669.3_Silent_p.G75G|KCNC2_ENST00000298972.1_Silent_p.G75G|KCNC2_ENST00000350228.2_Silent_p.G75G|KCNC2_ENST00000550433.1_Silent_p.G75G|KCNC2_ENST00000548513.1_Silent_p.G75G NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 75 Gly/Pro-rich (insert). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CGAAGCAGCCGCCTGGCCCGg 0.766000 7 1 0 0 0.003080 0 0 APBB1 322 broad.mit.edu 37 11 6422239 6422239 + Missense_Mutation SNP A A G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr11:6422239A>G ENST00000389906.2 - 11 1751 c.1652T>C c.(1651-1653)gTa>gCa p.V551A APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000299402.6_Missense_Mutation_p.V549A|APBB1_ENST00000311051.3_Missense_Mutation_p.V549A|APBB1_ENST00000530885.1_Missense_Mutation_p.V329A NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 551 PID 2. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) AGCAACAGGTACATTCCCCAG 0.478000 9 216 0 0 0.008291 0 0 ABCB11 8647 broad.mit.edu 37 2 169792772 169792772 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:169792772G>C ENST00000263817.6 - 22 2906 c.2782C>G c.(2782-2784)Cga>Gga p.R928G NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 928 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TGCTTATCTCGAGAGGCAAAT 0.488000 18 29 0 0 0.006122 0 0 ABCA7 10347 broad.mit.edu 37 19 1055346 1055346 + Nonsense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:1055346C>T ENST00000263094.6 + 30 4432 c.4201C>T c.(4201-4203)Cag>Tag p.Q1401* ABCA7_ENST00000435683.2_Nonsense_Mutation_p.Q1263*|ABCA7_ENST00000433129.1_Nonsense_Mutation_p.Q1401* NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1401 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) CCTGGTGCGCCAGGGGTGAGC 0.637000 5 18 0 0 0.001168 0 0 FBXO4 26272 broad.mit.edu 37 5 41934106 41934106 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr5:41934106C>G ENST00000296812.2 + 4 761 c.705C>G c.(703-705)atC>atG p.I235M FBXO4_ENST00000509134.1_Missense_Mutation_p.I235M|FBXO4_ENST00000281623.3_Missense_Mutation_p.I235M NM_033484.2 NP_277019.1 Q9UKT5 FBX4_HUMAN F-box protein 4 235 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) ACATTCTAATCTTATATTCAA 0.328000 16 69 0 0 0.004990 0 0 FAM83A 84985 broad.mit.edu 37 8 124219708 124219708 + Missense_Mutation SNP A A C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:124219708A>C ENST00000518448.1 + 5 3099 c.1085A>C c.(1084-1086)cAc>cCc p.H362P FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.H362P Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 362 Pro-rich. breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GCGGCCCCACACCCGCCTCCA 0.766000 5 13 0 0 0.004482 0 0 DUS2 54920 broad.mit.edu 37 16 68109341 68109341 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr16:68109341C>T ENST00000565263.1 + 14 1510 c.1016C>T c.(1015-1017)tCa>tTa p.S339L DUS2L_ENST00000432752.1_Missense_Mutation_p.S304L|DUS2L_ENST00000358896.6_Missense_Mutation_p.S339L NM_017803.3 NP_060273.1 Q9NX74 DUS2L_HUMAN 339 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) GCCAAGACTTCAGAGCAGACA 0.567000 20 32 0 0 0.012319 0 0 FLG2 388698 broad.mit.edu 37 1 152327320 152327320 + Nonsense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:152327320G>C ENST00000388718.5 - 3 3014 c.2942C>G c.(2941-2943)tCa>tGa p.S981* FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 981 Ser-rich. calcium ion binding|structural molecule activity p.S981*(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGATTTTCCTGAGCCTGACTC 0.493000 12 592 0 0 0.010729 0 0 HACE1 57531 broad.mit.edu 37 6 105281023 105281023 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr6:105281023C>T ENST00000262903.4 - 6 704 c.428G>A c.(427-429)cGg>cAg p.R143Q HACE1_ENST00000369125.2_Missense_Mutation_p.R143Q|RP11-809N15.2_ENST00000422930.1_RNA NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 143 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TAGTTCTGTCCGCCCATTCAC 0.423000 25 75 0 0 0.006320 0 0 INPP5B 3633 broad.mit.edu 37 1 38339682 38339682 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:38339682C>T ENST00000373023.2 - 18 2267 c.2174G>A c.(2173-2175)aGa>aAa p.R725K INPP5B_ENST00000373024.3_Missense_Mutation_p.R645K|INPP5B_ENST00000373026.1_Missense_Mutation_p.R725K|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.R481K NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 725 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GAGGAAGCCTCTGCTGGGGTT 0.438000 18 18 0 0 0.008871 0 0 SLC39A14 23516 broad.mit.edu 37 8 22262337 22262337 + Missense_Mutation SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:22262337C>G ENST00000359741.5 + 2 289 c.114C>G c.(112-114)atC>atG p.I38M SLC39A14_ENST00000240095.6_Missense_Mutation_p.I38M|SLC39A14_ENST00000381237.1_Missense_Mutation_p.I38M|SLC39A14_ENST00000289952.5_Missense_Mutation_p.I38M NM_015359.4 NP_056174.2 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 38 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) CACCAGCTATCAGCGCTGCCT 0.602000 3 76 0 0 0.009096 0 0 HDGF 3068 broad.mit.edu 37 1 156713644 156713648 + Frame_Shift_Del DEL TGCCT TGCCT - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:156713644_156713648delTGCCT ENST00000357325.5 - 5 826_830 c.512_516delAGGCA c.(511-516)gfs p.EA171fs HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000537739.1_Frame_Shift_Del_p.EA171fs|HDGF_ENST00000416666.2_Frame_Shift_Del_p.EA139fs|HDGF_ENST00000368206.5_Frame_Shift_Del_p.EA187fs|HDGF_ENST00000368209.5_Frame_Shift_Del_p.EA164fs NM_004494.2 NP_004485.1 P51858 HDGF_HUMAN hepatoma-derived growth factor 171 Glu-rich. cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) CAGGGTTTTCTGCCTCCTTGGGACG 0.605 20 60 --- --- --- --- LYST 1130 broad.mit.edu 37 1 235964315 235964327 + Frame_Shift_Del DEL TTCCCCTTGAGTG TTCCCCTTGAGTG - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr1:235964315_235964327delTTCCCCTTGAGTG ENST00000389794.3 - 9 3957_3969 c.3783_3795delCACTCAAGGGGAA c.(3781-3795)ctfs p.LTQGE1261fs LYST_ENST00000389793.2_Frame_Shift_Del_p.LTQGE1261fs|LYST_ENST00000536965.1_Frame_Shift_Del_p.LTQGE1261fs Q99698 LYST_HUMAN lysosomal trafficking regulator 1261 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GATAAATTATTTCCCCTTGAGTGAGGTTTTCGA 0.366 20 139 --- --- --- --- CD8B 926 broad.mit.edu 37 2 87085532 87085533 + Frame_Shift_Ins INS - - T rs137953763 byFrequency TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:87085532_87085533insT ENST00000390655.6 - 2 108_109 c.50_51insA c.(49-51)cggfs p.R17fs CD8B_ENST00000349455.3_Frame_Shift_Ins_p.R17fs|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Frame_Shift_Ins_p.R17fs|CD8B_ENST00000393759.2_Frame_Shift_Ins_p.R17fs|CD8B_ENST00000393761.2_Frame_Shift_Ins_p.R17fs NM_004931.4 NP_004922.1 P10966 CD8B_HUMAN CD8b molecule 17 immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 13 CTGAGTTGCCATGGAGAACTAG 0.490 22 39 --- --- --- --- RNPEPL1 57140 broad.mit.edu 37 2 241517130 241517131 + Frame_Shift_Del DEL AG AG - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr2:241517130_241517131delAG ENST00000270357.3 + 11 1899_1900 c.1306_1307delAG c.(1306-1308)afs p.R436fs NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 436 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) CAACCTGCGCAGAGCCATCCAG 0.663 7 7 --- --- --- --- IQUB 154865 broad.mit.edu 37 7 123109372 123109372 + Frame_Shift_Del DEL T T - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr7:123109372delT ENST00000466202.1 - 9 2053 c.1477delA c.(1477-1479)tcfs p.I493fs IQUB_ENST00000434450.1_Frame_Shift_Del_p.I493fs|IQUB_ENST00000324698.6_Frame_Shift_Del_p.I493fs Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 493 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 CTGGCTCTGATGGTGAACTGC 0.358 31 134 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 8 420 --- --- --- --- MYBL1 4603 broad.mit.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T T - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr8:67488453delT ENST00000522677.3 - 10 1669 c.1259delA c.(1258-1260)acfs p.N420fs MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Del_p.N420fs NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 420 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) ATTACAAGTGTTTTTTTTCCC 0.403 7 442 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 7 163 --- --- --- --- PDE3A 5139 broad.mit.edu 37 12 20782960 20782977 + In_Frame_Del DEL AACTGCCAAACAAAGCCT AACTGCCAAACAAAGCCT - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr12:20782960_20782977delAACTGCCAAACAAAGCCT ENST00000359062.3 + 6 1699_1716 c.1659_1676delAACTGCCAAACAAAGCCT c.(1657-1677)aca>ac p.TTAKQSL553del PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 553 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTGCTGACACAACTGCCAAACAAAGCCTAGGTTCTCAC 0.500 9 144 --- --- --- --- WHAMMP3 339005 broad.mit.edu 37 15 23205231 23205231 + RNA DEL G G - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr15:23205231delG ENST00000400153.2 - 0 656 NR_003521.1 GCTCAAGTCAGGACAGTGTAA 0.333 4 5 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 7 100 --- --- --- --- AKAP1 8165 broad.mit.edu 37 17 55183460 55183460 + Frame_Shift_Del DEL A A - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr17:55183460delA ENST00000337714.3 + 2 868 c.635delA c.(634-636)gafs p.E212fs AKAP1_ENST00000571629.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000539273.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000572557.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000314126.3_Frame_Shift_Del_p.E212fs NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 212 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GTGTTGGGGGAAAAGGTGCTT 0.587 7 432 --- --- --- --- GLTSCR2 29997 broad.mit.edu 37 19 48258620 48258620 + Frame_Shift_Del DEL G G - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:48258620delG ENST00000246802.5 + 9 1107 c.1069delG c.(1069-1071)cgfs p.A357fs GLTSCR2_ENST00000598681.1_3'UTR NM_015710.4 NP_056525.2 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 357 nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) ACAGCAGGCCGCGTTGCGGGC 0.721 2 4 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50156573 50156573 + Frame_Shift_Del DEL C C - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr19:50156573delC ENST00000360565.3 + 7 3051 c.2927delC c.(2926-2928)acfs p.T976fs NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 976 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GTTCCTAGCACCCCGCCCCCC 0.682 2 4 --- --- --- --- DLGAP4 22839 broad.mit.edu 37 20 35155318 35155330 + Frame_Shift_Del DEL GAGGCCCGCAAGA GAGGCCCGCAAGA - TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chr20:35155318_35155330delGAGGCCCGCAAGA ENST00000373913.3 + 13 3334_3346 c.2854_2866delGAGGCCCGCAAGA c.(2854-2868)gafs p.EARKR952fs DLGAP4_ENST00000339266.5_Frame_Shift_Del_p.EARKR955fs|DLGAP4_ENST00000340491.4_Frame_Shift_Del_p.EARKR416fs|DLGAP4_ENST00000401952.2_Frame_Shift_Del_p.EARKR952fs|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000373907.2_Frame_Shift_Del_p.EARKR955fs|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 955 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GCAGCGCCAGGAGGCCCGCAAGAGACTCCTGGC 0.638 23 45 --- --- --- --- ATXN3L 92552 broad.mit.edu 37 X 13337468 13337469 + Frame_Shift_Ins INS - - T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b315bb-773b-4fd0-88ec-d11044996adc cca35864-76be-4095-afb4-eb4ca15b142c g.chrX:13337468_13337469insT ENST00000380622.2 - 1 1049_1050 c.585_586insA c.(583-588)aatagtfs p.NS195fs GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 195 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 TGTTTTACTAATTTTTTTCCAT 0.381 158 70 --- --- --- ---