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 CROCCP2 84809 broad.mit.edu 37 1 16953672 16953672 + RNA SNP C C T rs3738597 by1000genomes TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:16953672C>T ENST00000412962.1 - 0 589 TCGGTCTTCTCGGCCTGCAGC 0.652000 6 49 0 0 0.000157383 0 0 TP53BP2 7159 broad.mit.edu 37 1 223986192 223986192 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:223986192C>T ENST00000391878.2 - 13 2054 c.1286G>A c.(1285-1287)aGa>aAa p.R429K TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Missense_Mutation_p.R558K NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 552 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TAGCAGCACTCTCGGCTGCTG 0.542000 80 164 0 0 0.000781405 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958811 50958811 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:50958811G>A ENST00000357701.5 + 20 2299 c.2248G>A c.(2248-2250)Gac>Aac p.D750N NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 750 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GGATGTGACAGACACCACCAC 0.587000 36 68 0 0 0.00148497 0 0 TCERG1 10915 broad.mit.edu 37 5 145826961 145826961 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:145826961G>A ENST00000296702.5 + 1 87 c.49G>A c.(49-51)Ggg>Agg p.G17R TCERG1_ENST00000394421.2_Missense_Mutation_p.G17R NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 17 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTCAACCCGGGGGAGCTCAG 0.647000 7 11 0 0 0.000274275 0 0 CHL1 10752 broad.mit.edu 37 3 447292 447292 + Missense_Mutation SNP C C A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:447292C>A ENST00000256509.2 + 28 4215 c.3573C>A c.(3571-3573)ttC>ttA p.F1191L CHL1_ENST00000397491.2_Missense_Mutation_p.F1175L NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 1175 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ATGGTCTCTTCAGTGAAGATG 0.478000 31 11 3.90053e-15 1.69536e-14 0.0024448 1 0 NUAK1 9891 broad.mit.edu 37 12 106461156 106461156 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:106461156C>T ENST00000261402.2 - 7 2789 c.1410G>A c.(1408-1410)aaG>aaA p.K470K NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 470 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 TCTGCTGGGTCTTTTTCAAGA 0.572000 25 18 0 0 0.000586117 0 0 GPRIN3 285513 broad.mit.edu 37 4 90169055 90169055 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:90169055G>A ENST00000333209.3 - 2 2725 c.2207C>T c.(2206-2208)tCc>tTc p.S736F NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 736 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) AGTATCTGAGGAAATGGATCT 0.478000 36 61 0 0 0.000953801 0 0 CNDP1 84735 broad.mit.edu 37 18 72245505 72245505 + Missense_Mutation SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr18:72245505A>G ENST00000582365.1 + 8 1047 c.981A>G c.(979-981)atA>atG p.I327M CNDP1_ENST00000358821.3_Missense_Mutation_p.I370M Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 370 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) GCCGAGTTATAGGAAAATTTT 0.428000 57 48 0 0 0.000781405 0 0 TNNC2 7125 broad.mit.edu 37 20 44452684 44452684 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr20:44452684C>T ENST00000372557.1 - 6 559 c.352G>A c.(352-354)Gaa>Aaa p.E118K TNNC2_ENST00000372555.3_Missense_Mutation_p.E133K P02585 TNNC2_HUMAN troponin C type 2 (fast) 133 EF-hand 3. muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.0122) ATCAGAGATTCGATCTCCTCG 0.612000 57 58 0 0 0.000781405 0 0 DDX1 1653 broad.mit.edu 37 2 15735288 15735288 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:15735288G>A ENST00000381341.2 + 3 425 c.36G>A c.(34-36)gaG>gaA p.E12E DDX1_ENST00000233084.3_Silent_p.E12E Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 12 Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TAATGCCTGAGATTGCACAAG 0.318000 20 29 0 0 0.00229938 0 0 DGKZ 8525 broad.mit.edu 37 11 46393075 46393075 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:46393075C>T ENST00000454345.1 + 9 1370 c.1245C>T c.(1243-1245)atC>atT p.I415I DGKZ_ENST00000456247.2_Silent_p.I226I|DGKZ_ENST00000528615.1_Silent_p.I5I|DGKZ_ENST00000527911.1_Silent_p.I227I|DGKZ_ENST00000395574.3_Silent_p.I193I|DGKZ_ENST00000421244.2_Silent_p.I227I|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000343674.6_Silent_p.I243I|DGKZ_ENST00000318201.8_Silent_p.I204I|DGKZ_ENST00000532868.2_Silent_p.I231I NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 415 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TGCAGCAGATCGAGGAGCCGT 0.677000 14 16 0 0 0.00185496 0 0 REG4 83998 broad.mit.edu 37 1 120342418 120342418 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:120342418G>A ENST00000354219.1 - 5 672 c.233C>T c.(232-234)aCc>aTc p.T78I REG4_ENST00000530654.1_Missense_Mutation_p.T78I|REG4_ENST00000256585.5_Missense_Mutation_p.T78I NM_001159352.1 NP_001152824.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 78 C-type lectin. extracellular region sugar binding central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) CTCTGCTATGGTGCTGGCTTC 0.512000 120 263 0 0 0.000781405 0 0 FHOD3 80206 broad.mit.edu 37 18 34289066 34289066 + Missense_Mutation SNP G G T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr18:34289066G>T ENST00000257209.4 + 15 1842 c.1720G>T c.(1720-1722)Ggg>Tgg p.G574W FHOD3_ENST00000359247.4_Missense_Mutation_p.G557W|FHOD3_ENST00000445677.1_Missense_Mutation_p.G536W|FHOD3_ENST00000590592.1_Missense_Mutation_p.G749W|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 557 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AGCAAGTGCCGGGGATCCTGA 0.542000 5 128 0.00198382 0.00836347 0.00198382 1 0 CYLC1 1538 broad.mit.edu 37 X 83128980 83128980 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chrX:83128980G>A ENST00000329312.4 + 4 1301 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 422 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity p.E421K(1) NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TCAGAAAGATGAAAAAAAGGA 0.343000 12 1 0 0 0.00185496 0 0 TMC1 117531 broad.mit.edu 37 9 75403334 75403334 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:75403334G>A ENST00000297784.5 + 14 1504 c.964G>A c.(964-966)Gac>Aac p.D322N TMC1_ENST00000340019.3_Missense_Mutation_p.D322N|TMC1_ENST00000396237.3_Missense_Mutation_p.D322N NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 322 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TACCAGCTGGGACTACCTGAT 0.398000 27 37 0 0 0.00106085 0 0 OAS3 4940 broad.mit.edu 37 12 113398967 113398967 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:113398967C>T ENST00000228928.7 + 8 1928 c.1749C>T c.(1747-1749)ttC>ttT p.F583F RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 583 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding p.F583F(1) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 AGGCCTGCTTCGCAGAGCTGC 0.582000 12 16 0 0 0.00185496 0 0 STAT4 6775 broad.mit.edu 37 2 191941042 191941042 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:191941042G>A ENST00000392320.2 - 4 597 c.283C>T c.(283-285)Cat>Tat p.H95Y STAT4_ENST00000358470.4_Missense_Mutation_p.H95Y NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 95 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GGATTTCCATGAAATTTTCCC 0.328000 48 63 0 0 0.000781405 0 0 SULT1E1 6783 broad.mit.edu 37 4 70715154 70715154 + Splice_Site SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:70715154C>T ENST00000226444.3 - 5 609 c.e5+1 NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 GCTGTTCCTACCCTGTCCTTG 0.378000 21 53 0 0 0.00229938 0 0 OR14K1 343170 broad.mit.edu 37 1 247902192 247902192 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:247902192C>T ENST00000283225.2 + 1 276 c.276C>T c.(274-276)ttC>ttT p.F92F RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 CCATCTCCTTCCTGGGGTGTG 0.517000 33 19 0 0 0.00148497 0 0 XIST 7503 broad.mit.edu 37 X 73071669 73071669 + RNA SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chrX:73071669C>T ENST00000429829.1 - 0 919 NR_001564.2 GGCCACTTTTCCTCCACAATC 0.473000 51 9 0 0 0.000781405 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806585 97806585 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:97806585C>T ENST00000358642.2 + 1 569 c.569C>T c.(568-570)tCa>tTa p.S190L NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 TTCAAAATTTCATGCAATGGT 0.313000 25 59 0 0 0.000720815 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120387 38120387 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr22:38120387C>T ENST00000406386.3 + 7 2079 c.1824C>T c.(1822-1824)ccC>ccT p.P608P RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 608 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GGGACAATCCCAGAGCCTCCA 0.582000 28 55 0 0 0.001512 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 3 5 0 0 0.00024832 0 0 TFAP4 7023 broad.mit.edu 37 16 4310169 4310169 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:4310169G>A ENST00000204517.6 - 6 1072 c.744C>T c.(742-744)atC>atT p.I248I NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 248 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 TGACGACATTGATGTGGTGGG 0.627000 43 30 0 0 0.000781405 0 0 PRR12 57479 broad.mit.edu 37 19 50099247 50099247 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:50099247C>T ENST00000418929.2 + 4 1667 c.1655C>T c.(1654-1656)tCc>tTc p.S552F NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 325 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGACCCAGCTCCCTGGGAGGC 0.711000 39 32 0 0 0.00148497 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24565606 24565606 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr20:24565606G>A ENST00000376862.3 + 3 1228 c.595G>A c.(595-597)Gca>Aca p.A199T SYNDIG1_ENST00000482637.1_3'UTR NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 199 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 TCTGGGCATCGCAGCCTTCTA 0.617000 57 54 0 0 0.000781405 0 0 TOMM40 10452 broad.mit.edu 37 19 45394827 45394827 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:45394827G>A ENST00000592434.1 + 2 248 c.155G>A c.(154-156)cGa>cAa p.R52Q TOMM40_ENST00000252487.5_Missense_Mutation_p.R52Q|TOMM40_ENST00000405636.2_Missense_Mutation_p.R52Q|TOMM40_ENST00000426677.2_Missense_Mutation_p.R52Q O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast) 52 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) AGTACGAGTCGAAGTTCGGAA 0.766000 13 14 0 0 0.00244969 0 0 AGA 175 broad.mit.edu 37 4 178352882 178352882 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:178352882C>T ENST00000264595.2 - 9 1148 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 341 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) TCCACTTTTTCCTCAGTTGGC 0.368000 16 12 0 0 0.000566183 0 0 CLCN3 1182 broad.mit.edu 37 4 170610194 170610194 + Splice_Site SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:170610194G>A ENST00000513761.1 + 5 978 c.418_splice c.e5-1 p.G140_splice CLCN3_ENST00000504131.2_Splice_Site_p.G123_splice|CLCN3_ENST00000347613.4_Splice_Site_p.G140_splice|CLCN3_ENST00000360642.3_Splice_Site_p.G140_splice NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 140 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GTTTTTATAGGGGCACTGGCC 0.423000 29 77 0 0 0.00178596 0 0 GLT6D1 360203 broad.mit.edu 37 9 138517996 138517996 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:138517996C>T ENST00000371763.1 - 4 429 c.176G>A c.(175-177)gGg>gAg p.G59E NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 59 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) GTCGAAAGTCCCTTCCCATAG 0.507000 23 29 0 0 0.000586117 0 0 PCYT1A 5130 broad.mit.edu 37 3 195984731 195984731 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:195984731C>T ENST00000292823.2 - 4 317 c.145G>A c.(145-147)Gat>Aat p.D49N PCYT1A_ENST00000431016.1_Missense_Mutation_p.D49N|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_Missense_Mutation_p.D49N NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 49 cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) TCAATTTCATCAGAAAAAGGA 0.363000 14 28 0 0 0.000308642 0 0 PADI6 353238 broad.mit.edu 37 1 17720899 17720899 + RNA SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:17720899G>A ENST00000434762.2 + 0 1337 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity p.G428E(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AAGGTCCAAGGGAAAGAGTAC 0.547000 4 9 0 0 0.00024832 0 0 NT5DC3 51559 broad.mit.edu 37 12 104192412 104192412 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:104192412C>T ENST00000392876.3 - 5 608 c.568G>A c.(568-570)Gag>Aag p.E190K NT5DC3_ENST00000465502.1_5'UTR NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 190 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 TGGGACCCCTCGTACATTTCA 0.423000 17 49 0 0 0.00229938 0 0 LRRN2 10446 broad.mit.edu 37 1 204588493 204588493 + Missense_Mutation SNP G G A rs141989916 byFrequency TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:204588493G>A ENST00000367175.1 - 1 2840 c.628C>T c.(628-630)Cgg>Tgg p.R210W LRRN2_ENST00000367176.3_Missense_Mutation_p.R210W|LRRN2_ENST00000367177.3_Missense_Mutation_p.R210W O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 210 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GCCAGGGGCCGGAAGTTCATG 0.587000 38 55 0 0 0.00222228 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939629 12939629 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:12939629G>A ENST00000235349.5 - 4 1243 c.1173C>T c.(1171-1173)ccC>ccT p.P391P NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 391 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCATGCAGATGGGATTTCCAC 0.527000 128 106 0 0 0.000781405 0 0 ABCG2 9429 broad.mit.edu 37 4 89034569 89034569 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:89034569C>T ENST00000237612.3 - 9 1625 c.1080G>A c.(1078-1080)aaG>aaA p.K360K ABCG2_ENST00000515655.1_Silent_p.K360K NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 360 cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) AGACTGTGATCTTCTTCTTCT 0.433000 71 52 0 0 0.000781405 0 0 NRROS 375387 broad.mit.edu 37 3 196381500 196381500 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:196381500C>T ENST00000328557.4 + 2 293 c.90C>T c.(88-90)tcC>tcT p.S30S NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CAGCAGCCTCCCAAGGAGTCT 0.557000 13 37 0 0 0.00185496 0 0 ZNF528 84436 broad.mit.edu 37 19 52909821 52909821 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:52909821C>T ENST00000391788.2 + 6 689 c.166C>T c.(166-168)Ccc>Tcc p.P56S ZNF528_ENST00000360465.3_Missense_Mutation_p.P66S|ZNF528_ENST00000598192.1_Missense_Mutation_p.P66S|ZNF528_ENST00000594530.1_Missense_Mutation_p.P66S Q3MIS6 ZN528_HUMAN zinc finger protein 528 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P66S(1) breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) AAAGAGAGATCCCTGGACTCT 0.473000 39 37 0 0 0.0025221 0 0 MYLK 4638 broad.mit.edu 37 3 123367904 123367904 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:123367904C>T ENST00000360772.3 - 27 4707 c.4329G>A c.(4327-4329)aaG>aaA p.K1443K MYLK_ENST00000359169.1_Silent_p.K1443K|MYLK_ENST00000354792.5_Silent_p.K243K|MYLK_ENST00000360304.3_Silent_p.K1443K|MYLK_ENST00000346322.5_Silent_p.K1374K|MYLK_ENST00000475616.1_Silent_p.K1443K Q15746 MYLK_HUMAN myosin light chain kinase 1443 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTCGGGCTCCTTCTCATCTG 0.542000 35 64 0 0 0.00148497 0 0 CPT1C 126129 broad.mit.edu 37 19 50209210 50209210 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:50209210C>T ENST00000392518.4 + 11 1381 c.1009C>T c.(1009-1011)Cac>Tac p.H337Y CPT1C_ENST00000354199.5_Missense_Mutation_p.H337Y|CPT1C_ENST00000598293.1_Missense_Mutation_p.H337Y|CPT1C_ENST00000323446.5_Missense_Mutation_p.H337Y|CPT1C_ENST00000405931.2_Missense_Mutation_p.H326Y NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 337 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GGCTGTCTTCCACCGGGGCCG 0.587000 18 54 0 0 0.000720815 0 0 PRKD3 23683 broad.mit.edu 37 2 37543442 37543442 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:37543442C>T ENST00000379066.1 - 2 988 c.226G>A c.(226-228)Gaa>Aaa p.E76K PRKD3_ENST00000234179.2_Missense_Mutation_p.E76K O94806 KPCD3_HUMAN protein kinase D3 76 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) TCCTGGGCTTCAATGGTAACA 0.428000 45 94 0 0 0.000781405 0 0 HK3 3101 broad.mit.edu 37 5 176309021 176309021 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:176309021C>T ENST00000292432.5 - 16 2252 c.2161G>A c.(2161-2163)Gat>Aat p.D721N NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 721 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAGAGCCATCGTCCCCAAAG 0.642000 56 32 0 0 0.000781405 0 0 OR1G1 8390 broad.mit.edu 37 17 3030271 3030271 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:3030271G>A ENST00000328890.2 - 1 604 c.575C>T c.(574-576)cCc>cTc p.P192L NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 ATTGGTGAAGGGGTCTGTGCA 0.498000 56 58 0 0 0.000781405 0 0 CLRN1 7401 broad.mit.edu 37 3 150690318 150690318 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:150690318C>T ENST00000327047.1 - 1 468 c.178G>A c.(178-180)Gaa>Aaa p.E60K RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.E60K|CLRN1-AS1_ENST00000476886.1_RNA NM_174878.2 NP_777367.1 P58418 CLRN1_HUMAN clarin 1 60 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TACTGCATTTCACCCATAAAC 0.532000 46 33 0 0 0.000680045 0 0 GPR182 11318 broad.mit.edu 37 12 57389082 57389082 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:57389082C>T ENST00000300098.1 + 2 308 c.89C>T c.(88-90)aCc>aTc p.T30I NM_007264.3 NP_009195.1 O15218 GP182_HUMAN G protein-coupled receptor 182 30 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 15 CACAACTGGACCGAGCTGCTT 0.612000 33 39 0 0 0.000814825 0 0 SF3B3 23450 broad.mit.edu 37 16 70572248 70572248 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:70572248G>A ENST00000302516.5 + 7 1059 c.848G>A c.(847-849)aGa>aAa p.R283K NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 283 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GACCCTGAAAGAGGAATGATT 0.388000 34 99 0 0 0.00148497 0 0 KDM3A 55818 broad.mit.edu 37 2 86711207 86711207 + Missense_Mutation SNP T T C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:86711207T>C ENST00000409556.1 + 20 3385 c.3020T>C c.(3019-3021)gTt>gCt p.V1007A KDM3A_ENST00000312912.5_Missense_Mutation_p.V1007A|KDM3A_ENST00000542128.1_Missense_Mutation_p.V955A|KDM3A_ENST00000409064.1_Missense_Mutation_p.V1007A Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 1007 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 GTAGACCTAGTTAATTGTAGG 0.418000 36 45 0 0 0.000814825 0 0 AKT1 207 broad.mit.edu 37 14 105241328 105241328 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:105241328G>A ENST00000554581.1 - 6 2060 c.580C>T c.(580-582)Cac>Tac p.H194Y AKT1_ENST00000554848.1_Missense_Mutation_p.H194Y|AKT1_ENST00000544168.1_Missense_Mutation_p.H132Y|AKT1_ENST00000407796.2_Missense_Mutation_p.H194Y|AKT1_ENST00000402615.2_Missense_Mutation_p.H194Y|AKT1_ENST00000349310.3_Missense_Mutation_p.H194Y|AKT1_ENST00000555528.1_Missense_Mutation_p.H194Y P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 194 Protein kinase. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) GTGAGTGTGTGGGCCACCTCG 0.672000 1 Mis """breast, colorectal, ovarian, NSCLC""" 23 13 0 0 0.00278032 0 0 SH3BP4 23677 broad.mit.edu 37 2 235951888 235951888 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:235951888G>A ENST00000409212.1 + 4 2982 c.2475G>A c.(2473-2475)gtG>gtA p.V825V SH3BP4_ENST00000392011.2_Silent_p.V825V|SH3BP4_ENST00000344528.4_Silent_p.V825V Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 825 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) AGGAGCTTGTGATGGTGAGTG 0.577000 27 35 0 0 0.001512 0 0 NLRP12 91662 broad.mit.edu 37 19 54312870 54312870 + Silent SNP G G A rs141711127 by1000genomes TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:54312870G>A ENST00000324134.6 - 3 2211 c.2043C>T c.(2041-2043)tcC>tcT p.S681S NLRP12_ENST00000351894.4_Silent_p.S681S|NLRP12_ENST00000354278.3_Silent_p.S681S|NLRP12_ENST00000391772.1_Silent_p.S681S|NLRP12_ENST00000535162.1_Silent_p.S681S|NLRP12_ENST00000391775.3_Silent_p.S681S|NLRP12_ENST00000345770.5_Silent_p.S681S|NLRP12_ENST00000391773.1_Silent_p.S681S NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 681 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCGCTCCTGCGGAGCACCTCG 0.567000 16 20 0 0 0.000422831 0 0 OR4C3 256144 broad.mit.edu 37 11 48347057 48347057 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:48347057C>T ENST00000319856.4 + 1 586 c.565C>T c.(565-567)Ctt>Ttt p.L189F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 CCTCCTGGTCCTTTGGTTGCC 0.517000 9 96 0 0 0.00229938 0 0 ZMYND15 84225 broad.mit.edu 37 17 4644204 4644204 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:4644204G>A ENST00000433935.1 + 2 418 c.361G>A c.(361-363)Gaa>Aaa p.E121K ZMYND15_ENST00000592813.1_Missense_Mutation_p.E121K|ZMYND15_ENST00000573751.2_Missense_Mutation_p.E121K|ZMYND15_ENST00000269289.6_Missense_Mutation_p.E121K NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 121 Glu-rich. zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 ggaagaggaggaagatgaaga 0.602000 9 10 0 0 0.000274275 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140801371 140801371 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:140801371C>T ENST00000398587.2 + 1 610 c.577C>T c.(577-579)Cca>Tca p.P193S PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.P193S|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCAAGAATCCAGAGCTAGT 0.567000 18 8 0 0 0.000958276 0 0 SERPINF1 5176 broad.mit.edu 37 17 1674330 1674330 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:1674330G>A ENST00000254722.4 + 4 454 c.291G>A c.(289-291)gaG>gaA p.E97E SERPINF1_ENST00000571870.1_3'UTR NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 97 EQ -> DE (in Ref. 1; AAA60058 and 9; AAB38685). cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 CAGGAGCGGAGCAGCGAACAG 0.517000 61 75 0 0 0.000781405 0 0 EFTUD1 79631 broad.mit.edu 37 15 82520603 82520603 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:82520603C>T ENST00000268206.7 - 10 1166 c.998G>A c.(997-999)cGa>cAa p.R333Q EFTUD1_ENST00000561331.1_5'UTR|EFTUD1_ENST00000359445.3_Missense_Mutation_p.R282Q NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 333 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 GTCTGAATGTCGTGCCTCCCG 0.408000 22 35 0 0 0.00229938 0 0 RAD23A 5886 broad.mit.edu 37 19 13063580 13063580 + Silent SNP G G T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:13063580G>T ENST00000586534.1 + 8 952 c.891G>T c.(889-891)gtG>gtT p.V297V RAD23A_ENST00000316856.3_Silent_p.V296V|RAD23A_ENST00000541222.1_Silent_p.V132V|RAD23A_ENST00000592268.1_Intron P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 297 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 TCTCAGATGTGGAGGGGGAGG 0.617000 Nucleotide excision repair (NER) 20 59 1.55795e-14 6.75256e-14 0.00188189 1 0 ATXN7 6314 broad.mit.edu 37 3 63973962 63973962 + Silent SNP A A T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:63973962A>T ENST00000398590.3 + 9 1876 c.1323A>T c.(1321-1323)gtA>gtT p.V441V ATXN7_ENST00000538065.1_Silent_p.V441V|ATXN7_ENST00000295900.6_Silent_p.V441V|ATXN7_ENST00000484332.1_Silent_p.V296V|ATXN7_ENST00000487717.1_Silent_p.V441V NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 441 Pro-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) AGCCTTTTGTAGCTAGTAAAC 0.537000 28 63 0 0 0.00106085 0 0 MIR409 574413 broad.mit.edu 37 14 101531680 101531680 + RNA SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:101531680G>A ENST00000362237.1 + 0 44 NR_029975.1 GCATCTGGACGACGAATGTTG 0.592000 21 29 0 0 0.00278032 0 0 GK2 2712 broad.mit.edu 37 4 80329315 80329315 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:80329315C>T ENST00000358842.3 - 1 57 c.40G>A c.(40-42)Gga>Aga p.G14R NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 14 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 ACCACCGCTCCCACCAACGGC 0.557000 8 17 0 0 0.000274275 0 0 ISCA2 122961 broad.mit.edu 37 14 74961672 74961672 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:74961672C>T ENST00000556816.1 + 4 489 c.434C>T c.(433-435)tCc>tTc p.S145F ISCA2_ENST00000554924.1_3'UTR|ISCA2_ENST00000298818.8_3'UTR Q86U28 ISCA2_HUMAN iron-sulfur cluster assembly 2 145 iron-sulfur cluster assembly mitochondrion iron-sulfur cluster binding|metal ion binding|structural molecule activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00146) CAAGGCTGCTCCTGTGGGTCA 0.463000 41 42 0 0 0.00222228 0 0 FARSB 10056 broad.mit.edu 37 2 223436631 223436631 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:223436631G>A ENST00000281828.6 - 17 1992 c.1729C>T c.(1729-1731)Ccc>Tcc p.P577S FARSB_ENST00000536361.1_Missense_Mutation_p.P478S NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 577 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) GAGGAGCAGGGCATGGTCAGC 0.527000 16 26 0 0 0.000566183 0 0 FSD2 123722 broad.mit.edu 37 15 83451553 83451553 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:83451553G>A ENST00000334574.8 - 4 1141 c.960C>T c.(958-960)ttC>ttT p.F320F FSD2_ENST00000541889.1_Silent_p.F320F A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 320 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 TGACCTTTATGAAATCCACCT 0.378000 125 182 0 0 0.000781405 0 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 5 27 0 0 0.000602214 0 0 TMEM56 148534 broad.mit.edu 37 1 95609521 95609521 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:95609521C>T ENST00000370203.4 + 2 355 c.64C>T c.(64-66)Ctt>Ttt p.L22F TMEM56_ENST00000463375.1_3'UTR|RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.L22F NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 22 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) CTTTCAGCTTCTTTTCTACTT 0.348000 20 47 0 0 0.00188189 0 0 RIF1 55183 broad.mit.edu 37 2 152273114 152273114 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:152273114C>T ENST00000243326.4 + 4 803 c.320C>T c.(319-321)aCc>aTc p.T107I RIF1_ENST00000430328.2_Missense_Mutation_p.T107I|RIF1_ENST00000444746.2_Missense_Mutation_p.T107I|RIF1_ENST00000433166.2_Missense_Mutation_p.T107I|RIF1_ENST00000428287.2_Missense_Mutation_p.T107I|RIF1_ENST00000453091.2_Missense_Mutation_p.T107I Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 107 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TTGAATGATACCATTAAGAAT 0.333000 117 131 0 0 0.000781405 0 0 KIAA1549 57670 broad.mit.edu 37 7 138554416 138554416 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr7:138554416G>A ENST00000440172.1 - 14 4691 c.4643C>T c.(4642-4644)cCg>cTg p.P1548L KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1548L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1498L NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1548 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GTCTACCACCGGGAACTCGTA 0.637000 O BRAF pilocytic astrocytoma 9 12 0 0 0.000274275 0 0 HERC2 8924 broad.mit.edu 37 15 28366576 28366576 + Splice_Site SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:28366576C>T ENST00000261609.7 - 86 13297 c.e86-1 NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAGCCGCCTCCTAAAACACAT 0.438000 25 24 0 0 0.00106085 0 0 POLR1B 84172 broad.mit.edu 37 2 113325561 113325561 + Silent SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:113325561A>G ENST00000263331.5 + 11 2344 c.1764A>G c.(1762-1764)agA>agG p.R588R POLR1B_ENST00000541869.1_Silent_p.R626R|POLR1B_ENST00000417433.2_Silent_p.R532R|POLR1B_ENST00000537335.1_Silent_p.R377R|POLR1B_ENST00000409894.3_Silent_p.R405R NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 588 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 GAGAGAAAAGAATTCCTCCCT 0.463000 21 34 0 0 0.00229938 0 0 CR2 1380 broad.mit.edu 37 1 207648498 207648498 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:207648498C>T ENST00000367057.3 + 14 2842 c.2653C>T c.(2653-2655)Cgc>Tgc p.R885C CR2_ENST00000367058.3_Missense_Mutation_p.R826C|CR2_ENST00000458541.2_Missense_Mutation_p.R799C|CR2_ENST00000367059.3_Missense_Mutation_p.R826C NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 951 Sushi 14. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GAATGGTAGTCGCGTGATTAG 0.408000 71 19 0 0 0.000781405 0 0 NACA 4666 broad.mit.edu 37 12 57110989 57110989 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:57110989G>A ENST00000454682.1 - 3 4606 c.4325C>T c.(4324-4326)tCc>tTc p.S1442F NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTTGAGGGAGACAGGAGT 0.612000 T BCL6 NHL 17 12 0 0 0.00074312 0 0 KNDC1 85442 broad.mit.edu 37 10 135000066 135000066 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr10:135000066C>T ENST00000304613.3 + 6 1235 c.1214C>T c.(1213-1215)cCa>cTa p.P405L KNDC1_ENST00000368571.2_Missense_Mutation_p.P340L|KNDC1_ENST00000368572.2_Missense_Mutation_p.P405L Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 405 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AGCCAGGGGCCAGCAGAGGCC 0.662000 11 29 0 0 0.000978159 0 0 SPIN1 10927 broad.mit.edu 37 9 91077425 91077425 + Missense_Mutation SNP G G T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:91077425G>T ENST00000375859.3 + 4 394 c.116G>T c.(115-117)aGt>aTt p.S39I SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.S39I NM_006717.2 NP_006708.2 Q9Y657 SPIN1_HUMAN spindlin 1 39 cell cycle|gamete generation|multicellular organismal development nucleus methylated histone residue binding endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 CATCGGAGCAGTGTGGGTCCG 0.498000 31 56 4.62619e-21 2.02216e-20 0.000814825 1 0 WDR93 56964 broad.mit.edu 37 15 90280818 90280818 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:90280818C>T ENST00000268130.7 + 15 1724 c.1623C>T c.(1621-1623)tcC>tcT p.S541S WDR93_ENST00000560294.1_Silent_p.S513S|WDR93_ENST00000444934.2_Silent_p.S258S NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 541 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TCATCTTTTCCAAGAATGGCT 0.557000 60 67 0 0 0.000781405 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141223 63141223 + Missense_Mutation SNP T T C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:63141223T>C ENST00000279178.3 + 3 863 c.614T>C c.(613-615)tTg>tCg p.L205S SLC22A9_ENST00000310969.4_Intron NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 205 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTACGCTTCTTGTCTGGGATT 0.443000 59 79 0 0 0.000781405 0 0 AGO4 192670 broad.mit.edu 37 1 36315797 36315797 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:36315797G>A ENST00000373210.3 + 16 2460 c.2215G>A c.(2215-2217)Gat>Aat p.D739N AGO4_ENST00000488778.1_3'UTR NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 CACTACAGTGGATAGTACCAT 0.403000 55 41 0 0 0.000781405 0 0 FMN2 56776 broad.mit.edu 37 1 240341256 240341256 + Silent SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:240341256A>G ENST00000319653.9 + 3 2048 c.1818A>G c.(1816-1818)caA>caG p.Q606Q RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 606 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGTTAGTCAACCCACACACT 0.418000 16 6 0 0 0.000566183 0 0 FMO5 2330 broad.mit.edu 37 1 146658801 146658801 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:146658801G>A ENST00000254090.4 - 9 1668 c.1280C>T c.(1279-1281)aCc>aTc p.T427I FMO5_ENST00000369272.3_3'UTR|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Intron NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 427 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) TCCCTGAATGGTATGGCGTTG 0.483000 12 4 0 0 0.00185496 0 0 SAMD9 54809 broad.mit.edu 37 7 92732256 92732256 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr7:92732256G>A ENST00000379958.2 - 3 3424 c.3155C>T c.(3154-3156)tCc>tTc p.S1052F NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1052 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AATAAATGGGGAAAACCAATT 0.383000 28 56 0 0 0.00178596 0 0 NET1 10276 broad.mit.edu 37 10 5494349 5494349 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr10:5494349C>T ENST00000355029.4 + 5 534 c.392C>T c.(391-393)tCc>tTc p.S131F NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.S77F NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 131 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 GACCACAGATCCCCAGCCTCT 0.433000 15 2 0 0 0.00074312 0 0 FAM129C 199786 broad.mit.edu 37 19 17648261 17648261 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:17648261C>T ENST00000335393.4 + 6 735 c.597C>T c.(595-597)ttC>ttT p.F199F FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000352727.3_Silent_p.F199F|FAM129C_ENST00000599124.1_Silent_p.F168F|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000599164.1_Silent_p.F168F|FAM129C_ENST00000300971.2_Silent_p.F199F|FAM129C_ENST00000332386.5_Silent_p.F199F|FAM129C_ENST00000600871.1_Silent_p.F145F|FAM129C_ENST00000601861.1_Silent_p.F168F|FAM129C_ENST00000595684.1_Silent_p.F199F NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 199 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 AGCACCCCTTCCGCCGGCACC 0.617000 51 69 0 0 0.000781405 0 0 SLC6A3 6531 broad.mit.edu 37 5 1414876 1414876 + Silent SNP G G A rs28363072 TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:1414876G>A ENST00000270349.9 - 8 1213 c.1086C>T c.(1084-1086)ttC>ttT p.F362F SLC6A3_ENST00000453492.2_Silent_p.F362F NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 362 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AGAAGACGACGAAGCCGGAGG 0.617000 16 17 0 0 0.000958276 0 0 RP1 6101 broad.mit.edu 37 8 55538985 55538985 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:55538985G>A ENST00000220676.1 + 4 2691 c.2543G>A c.(2542-2544)aGa>aAa p.R848K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 848 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGGTATTTGAGAGGAATGGCA 0.348000 28 31 0 0 0.00127121 0 0 CACNA1C 775 broad.mit.edu 37 12 2602424 2602424 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:2602424G>A ENST00000399655.1 + 7 1250 c.985G>A c.(985-987)Ggc>Agc p.G329S CACNA1C_ENST00000344100.3_Missense_Mutation_p.G329S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G329S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G329S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G329S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G329S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G329S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G329S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G329S NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 329 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GTGCCAGAACGGCACGGTGTG 0.587000 27 77 0 0 0.001512 0 0 STAB1 23166 broad.mit.edu 37 3 52549479 52549479 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:52549479C>T ENST00000321725.6 + 37 3981 c.3905C>T c.(3904-3906)tCc>tTc p.S1302F NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1302 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTGGCTTCTCCTTCTCCCGG 0.617000 13 30 0 0 0.000308642 0 0 CACNA1B 774 broad.mit.edu 37 9 140809147 140809147 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:140809147C>T ENST00000371372.1 + 5 809 c.664C>T c.(664-666)Cca>Tca p.P222S CACNA1B_ENST00000371357.1_Missense_Mutation_p.P222S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P222S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P222S|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.P222S NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 222 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGCCATGGTTCCACTCCTGCA 0.547000 12 11 0 0 0.00136819 0 0 ANO4 121601 broad.mit.edu 37 12 101520688 101520688 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:101520688C>T ENST00000392979.3 + 26 2964 c.2603C>T c.(2602-2604)tCa>tTa p.S868L ANO4_ENST00000392977.3_Missense_Mutation_p.S903L|ANO4_ENST00000550015.1_Missense_Mutation_p.S423L|ANO4_ENST00000299222.9_Missense_Mutation_p.S423L NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 903 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CACCTCATTTCATATCTGATC 0.443000 HNSCC(74;0.22) 9 18 0 0 0.000274275 0 0 TTLL12 23170 broad.mit.edu 37 22 43579110 43579110 + Missense_Mutation SNP C C T rs143398079 TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr22:43579110C>T ENST00000216129.6 - 2 286 c.223G>A c.(223-225)Gta>Ata p.V75I NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 75 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) TCCTCTTCTACCTCCTCCACT 0.637000 55 79 0 0 0.000781405 0 0 MACF1 23499 broad.mit.edu 37 1 39835860 39835860 + Splice_Site SNP T T C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:39835860T>C ENST00000564288.1 + 51 13872 c.e51+2 MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000372915.3_Splice_Site|MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000567887.1_Splice_Site Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CACCTGAAGGTAGGTGAACAA 0.428000 10 6 0 0 0.000442599 0 0 MORC1 27136 broad.mit.edu 37 3 108723684 108723684 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:108723684C>T ENST00000232603.5 - 20 2147 c.2065G>A c.(2065-2067)Ggg>Agg p.G689R MORC1_ENST00000483760.1_Missense_Mutation_p.G668R NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 689 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTCAGGCACCCTTCAGTTGGT 0.348000 142 121 0 0 0.000781405 0 0 MYH9 4627 broad.mit.edu 37 22 36698686 36698686 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr22:36698686C>T ENST00000216181.5 - 20 2657 c.2427G>A c.(2425-2427)atG>atA p.M809I NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 809 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GGAGGACCTTCATGGCGGTAA 0.612000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 33 36 0 0 0.000814825 0 0 ADRM1 11047 broad.mit.edu 37 20 60882796 60882796 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr20:60882796C>T ENST00000253003.2 + 7 814 c.768C>T c.(766-768)gcC>gcT p.A256A NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 256 Ser-rich. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) GCACAGCAGCCAGCCCGACCC 0.677000 12 13 0 0 0.00136819 0 0 WASF3 10810 broad.mit.edu 37 13 27255226 27255226 + Missense_Mutation SNP C C A rs145774948 byFrequency TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr13:27255226C>A ENST00000361042.4 + 8 968 c.743C>A c.(742-744)cCg>cAg p.P248Q WASF3_ENST00000335327.5_Missense_Mutation_p.P251Q Q9UPY6 WASF3_HUMAN WAS protein family, member 3 251 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TACTCTTACCCGGCTACTCCC 0.517000 6 129 0.00198382 0.00836347 0.00198382 1 0 NEB 4703 broad.mit.edu 37 2 152525626 152525626 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:152525626C>T ENST00000427231.2 - 39 4728 c.4526G>A c.(4525-4527)gGa>gAa p.G1509E NEB_ENST00000604864.1_Missense_Mutation_p.G1509E|NEB_ENST00000603639.1_Missense_Mutation_p.G1509E|NEB_ENST00000397345.3_Missense_Mutation_p.G1509E|NEB_ENST00000172853.10_Missense_Mutation_p.G1509E|NEB_ENST00000409198.1_Missense_Mutation_p.G1509E NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1509 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CAGTTTCTCTCCCTCTACCTT 0.398000 3 9 0 0 6.4e-05 0 0 UBXN4 23190 broad.mit.edu 37 2 136519433 136519433 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:136519433G>A ENST00000272638.9 + 6 865 c.554G>A c.(553-555)gGa>gAa p.G185E UBXN4_ENST00000490163.1_Intron NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 185 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 GAGCCTAGTGGATGCTCAGAT 0.383000 19 46 0 0 0.000586117 0 0 FAM83B 222584 broad.mit.edu 37 6 54804970 54804970 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr6:54804970C>T ENST00000306858.7 + 5 1317 c.1201C>T c.(1201-1203)Ctg>Ttg p.L401L NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 401 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) GCCATACCTCCTGCTTAATAG 0.443000 51 34 0 0 0.000781405 0 0 NOTCH2 4853 broad.mit.edu 37 1 120497814 120497814 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:120497814G>A ENST00000256646.2 - 13 2287 c.2068C>T c.(2068-2070)Ccc>Tcc p.P690S NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 690 EGF-like 18; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGCGACAGGGATTGGAGGCA 0.507000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 295 182 0 0 0.000781405 0 0 LZTFL1 54585 broad.mit.edu 37 3 45879463 45879463 + Missense_Mutation SNP T T A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:45879463T>A ENST00000296135.6 - 2 258 c.84A>T c.(82-84)agA>agT p.R28S LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Missense_Mutation_p.R11S|LZTFL1_ENST00000490463.1_5'UTR NM_001276378.1|NM_020347.2 NP_001263307.1|NP_065080.1 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 28 endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 8 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) CAGTTTTGAGTCTCAAGCCTC 0.413000 33 20 0 0 0.000814825 0 0 PLCE1 51196 broad.mit.edu 37 10 96028694 96028694 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr10:96028694G>A ENST00000260766.3 + 17 4924 c.4290G>A c.(4288-4290)ttG>ttA p.L1430L PLCE1_ENST00000371380.2_Silent_p.L1430L|PLCE1_ENST00000371375.1_Silent_p.L1122L|PLCE1_ENST00000371385.3_Silent_p.L1122L NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1430 PI-PLC X-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AGGTCCTTTTGCAAGGCTGTC 0.498000 19 35 0 0 0.00121646 0 0 TTC6 319089 broad.mit.edu 37 14 38293143 38293143 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:38293143G>A ENST00000553443.1 + 27 4955 c.4955G>A c.(4954-4956)aGt>aAt p.S1652N TTC6_ENST00000476979.1_Missense_Mutation_p.S286N|TTC6_ENST00000382320.3_Missense_Mutation_p.S366N|TTC6_ENST00000267368.7_Missense_Mutation_p.S286N tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) GCCAGAATTAGTTTTGGCTAT 0.373000 34 20 0 0 0.00058488 0 0 LRPPRC 10128 broad.mit.edu 37 2 44203350 44203350 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:44203350C>T ENST00000260665.7 - 6 726 c.669G>A c.(667-669)atG>atA p.M223I LRPPRC_ENST00000409946.1_Missense_Mutation_p.M223I|LRPPRC_ENST00000409659.1_Missense_Mutation_p.M223I NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 223 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CCTTAGTTTTCATAAATCCAA 0.393000 146 203 0 0 0.000781405 0 0 CSNK1E 1454 broad.mit.edu 37 22 38696771 38696771 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr22:38696771C>T ENST00000396832.1 - 5 783 c.523G>A c.(523-525)Ggc>Agc p.G175S CSNK1E_ENST00000405675.3_Missense_Mutation_p.G175S|CSNK1E_ENST00000413574.2_Missense_Mutation_p.G175S|CSNK1E_ENST00000403904.1_Missense_Mutation_p.G175S|CSNK1E_ENST00000400206.2_Missense_Mutation_p.G175S|CSNK1E_ENST00000359867.3_Missense_Mutation_p.G175S NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 175 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) CGGGCCGTGCCGGTCAGGTTC 0.652000 32 39 0 0 0.000814825 0 0 PZP 5858 broad.mit.edu 37 12 9360928 9360928 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:9360928C>T ENST00000261336.2 - 1 38 c.10G>A c.(10-12)Gac>Aac p.D4N NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 AGAAGTCTGTCTTTCCGCATT 0.493000 9 13 0 0 0.000274275 0 0 GYPE 2996 broad.mit.edu 37 4 144797993 144797993 + Missense_Mutation SNP T T C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:144797993T>C ENST00000358615.4 - 3 203 c.152A>G c.(151-153)aAt>aGt p.N51S GYPE_ENST00000437468.2_Missense_Mutation_p.N51S NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) 51 integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) CGCCCACCAATTAATGAGTGT 0.358000 12 11 0 0 0.00136819 0 0 NPR3 4883 broad.mit.edu 37 5 32780897 32780897 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:32780897C>T ENST00000265074.8 + 5 1608 c.1265C>T c.(1264-1266)aCt>aTt p.T422I NPR3_ENST00000415685.2_Missense_Mutation_p.T206I|NPR3_ENST00000434067.2_Missense_Mutation_p.T206I|NPR3_ENST00000415167.2_Missense_Mutation_p.T422I NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 422 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) ATTGCCATGACTGATGTGGAG 0.557000 45 70 0 0 0.000781405 0 0 USPL1 10208 broad.mit.edu 37 13 31232917 31232917 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr13:31232917G>A ENST00000255304.4 + 9 3045 c.2703G>A c.(2701-2703)aaG>aaA p.K901K NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 901 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) CAGAAAAGAAGAAATTAGCTG 0.408000 10 36 0 0 0.000442599 0 0 FAM129B 64855 broad.mit.edu 37 9 130270444 130270444 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:130270444C>T ENST00000373312.3 - 12 1683 c.1470G>A c.(1468-1470)agG>agA p.R490R FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.R477R NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 490 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CCCGGAAGAACCTCTTCCGCA 0.627000 31 28 0 0 0.00058488 0 0 SETBP1 26040 broad.mit.edu 37 18 42533292 42533292 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr18:42533292C>T ENST00000282030.5 + 4 4283 c.3987C>T c.(3985-3987)tcC>tcT p.S1329S NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1329 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CTTATGACTCCTCCATGTCTC 0.448000 Schinzel-Giedion syndrome 13 26 0 0 0.00244969 0 0 PKD1 5310 broad.mit.edu 37 16 2140133 2140133 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:2140133G>A ENST00000262304.4 - 46 12715 c.12507C>T c.(12505-12507)tcC>tcT p.S4169S PKD1_ENST00000423118.1_Silent_p.S4168S NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4169 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GGGATACCTTGGAGCCCCTGG 0.692000 16 37 0 0 0.000422831 0 0 SORL1 6653 broad.mit.edu 37 11 121448004 121448004 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:121448004C>T ENST00000260197.7 + 25 3604 c.3475C>T c.(3475-3477)Cgg>Tgg p.R1159W SORL1_ENST00000534286.1_Missense_Mutation_p.R69W|SORL1_ENST00000532694.1_Missense_Mutation_p.R5W|SORL1_ENST00000525532.1_Missense_Mutation_p.R103W NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1159 LDL-receptor class A 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GCACCAGTGCCGGAGTGACGA 0.517000 21 42 0 0 0.00152264 0 0 USP17L2 377630 broad.mit.edu 37 8 11996079 11996079 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:11996079G>A ENST00000333796.3 - 1 507 c.191C>T c.(190-192)cCc>cTc p.P64L FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 64 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 CTTCTTCCTGGGAGCAAGCTG 0.567000 41 129 0 0 0.00222228 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458415 120458415 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:120458415G>A ENST00000256646.2 - 34 7149 c.6930C>T c.(6928-6930)atC>atT p.I2310I NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2310 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TGCCTTTAGGGATGAGCTGGA 0.632000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 115 282 0 0 0.000781405 0 0 ACTRT1 139741 broad.mit.edu 37 X 127186092 127186092 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chrX:127186092G>A ENST00000371124.3 - 1 290 c.94C>T c.(94-96)Cgc>Tgc p.R32C NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 32 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 ATGACATGGCGGGGTCCAATC 0.448000 44 7 0 0 0.0025221 0 0 HJURP 55355 broad.mit.edu 37 2 234749335 234749335 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:234749335G>A ENST00000411486.2 - 8 2156 c.2091C>T c.(2089-2091)tcC>tcT p.S697S HJURP_ENST00000441687.1_Silent_p.S612S|HJURP_ENST00000432087.1_Silent_p.S643S NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 697 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) AGGCACCCAGGGAATTGCCCT 0.592000 61 78 0 0 0.000781405 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597050 136597050 + Missense_Mutation SNP A A T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr6:136597050A>T ENST00000531224.1 - 5 1865 c.1613T>A c.(1612-1614)aTa>aAa p.I538K BCLAF1_ENST00000353331.4_Missense_Mutation_p.I536K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.I536K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.I365K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.I536K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.I538K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 538 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ATCACTCGCTATCATTTTGAT 0.423000 31 134 0 0 0.00178596 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128418 68128418 + Missense_Mutation SNP A A C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:68128418A>C ENST00000585558.1 + 4 683 c.295A>C c.(295-297)Act>Cct p.T99P KCNJ16_ENST00000586462.1_Missense_Mutation_p.T103P|KCNJ16_ENST00000392671.1_Missense_Mutation_p.T64P|KCNJ16_ENST00000392670.1_Missense_Mutation_p.T64P|KCNJ16_ENST00000283936.1_Missense_Mutation_p.T64P|KCNJ16_ENST00000589377.1_Missense_Mutation_p.T64P Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 64 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CATCTTCACCACTCTTGTGGA 0.408000 35 57 0 0 0.00058488 0 0 DHX57 90957 broad.mit.edu 37 2 39088480 39088480 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:39088480G>A ENST00000295373.6 - 5 1198 c.1072C>T c.(1072-1074)Cga>Tga p.R358* DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 358 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TTAGAAAATCGAATTTCAAGT 0.368000 25 31 0 0 0.00047179 0 0 PSMC4 5704 broad.mit.edu 37 19 40480235 40480235 + Silent SNP C C T rs138214626 TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:40480235C>T ENST00000157812.2 + 4 555 c.357C>T c.(355-357)atC>atT p.I119I PSMC4_ENST00000455878.2_Silent_p.I88I NM_006503.3|NM_153001.2 NP_006494.1|NP_694546.1 P43686 PRS6B_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 4 119 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGAGCACCATCGATCGGGAGC 0.597000 19 28 0 0 0.00047179 0 0 AKT1 207 broad.mit.edu 37 14 105241329 105241329 + Silent SNP G G A rs139453090 TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:105241329G>A ENST00000554581.1 - 6 2059 c.579C>T c.(577-579)gcC>gcT p.A193A AKT1_ENST00000554848.1_Silent_p.A193A|AKT1_ENST00000544168.1_Silent_p.A131A|AKT1_ENST00000407796.2_Silent_p.A193A|AKT1_ENST00000402615.2_Silent_p.A193A|AKT1_ENST00000349310.3_Silent_p.A193A|AKT1_ENST00000555528.1_Silent_p.A193A P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 193 Protein kinase. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TGAGTGTGTGGGCCACCTCGT 0.672000 1 Mis """breast, colorectal, ovarian, NSCLC""" 23 13 0 0 0.00278032 0 0 ZNF804B 219578 broad.mit.edu 37 7 88962967 88962967 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr7:88962967C>T ENST00000333190.4 + 4 1280 c.671C>T c.(670-672)tCc>tTc p.S224F NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 224 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTTACTTTTTCCAAAAAAGTG 0.353000 HNSCC(36;0.09) 17 33 0 0 0.00074312 0 0 MEP1A 4224 broad.mit.edu 37 6 46800919 46800919 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr6:46800919G>A ENST00000230588.4 + 11 1262 c.1253G>A c.(1252-1254)gGa>gAa p.G418E NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 418 MAM. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) TCAACTGGGGGAATTTACCTA 0.512000 30 36 0 0 0.00127121 0 0 CDH11 1009 broad.mit.edu 37 16 64984767 64984767 + Silent SNP C C A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:64984767C>A ENST00000394156.3 - 12 2250 c.1797G>T c.(1795-1797)ggG>ggT p.G599G CDH11_ENST00000268603.4_Silent_p.G599G|CDH11_ENST00000566827.1_Silent_p.G473G P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 599 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AGAGCAGTGCCCCGTTCACGT 0.602000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 12 23 9.31168e-06 3.99109e-05 0.00185496 1 0 NXNL1 115861 broad.mit.edu 37 19 17571378 17571378 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:17571378G>A ENST00000301944.2 - 1 385 c.301C>T c.(301-303)Ctg>Ttg p.L101L CTD-2521M24.10_ENST00000594663.1_Silent_p.L8L NM_138454.1 NP_612463.1 Q96CM4 NXNL1_HUMAN nucleoredoxin-like 1 101 Thioredoxin. cell redox homeostasis nuclear outer membrane central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 6 TCAAAGGGCAGGAAAAGCCAT 0.582000 25 30 0 0 0.00127121 0 0 TPTE 7179 broad.mit.edu 37 21 10951367 10951367 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr21:10951367G>A ENST00000298232.7 - 9 658 c.291C>T c.(289-291)ttC>ttT p.F97F TPTE_ENST00000342420.5_Silent_p.F77F|TPTE_ENST00000361285.4_Silent_p.F115F|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 115 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGCTGTCAGTGAAAATTAGGT 0.313000 49 108 0 0 0.000781405 0 0 SEC14L4 284904 broad.mit.edu 37 22 30886109 30886109 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr22:30886109G>A ENST00000540456.1 - 13 1354 c.1161C>T c.(1159-1161)ccC>ccT p.P387P SEC14L4_ENST00000392772.2_3'UTR|SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000255858.7_Silent_p.P402P Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 402 integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) GTGTTGGGGAGGGTCTCATCG 0.617000 15 22 0 0 0.00074312 0 0 C4orf27 54969 broad.mit.edu 37 4 170650819 170650819 + Silent SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:170650819A>G ENST00000393381.2 - 8 1026 c.951T>C c.(949-951)taT>taC p.Y317Y NM_017867.2 NP_060337.2 Q9NWY4 CD027_HUMAN chromosome 4 open reading frame 27 317 nucleus NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 12 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116) TCAACAGATTATATGCAAGAG 0.358000 20 39 0 0 0.000958276 0 0 PER3 8863 broad.mit.edu 37 1 7863183 7863183 + Missense_Mutation SNP C C T rs145870917 TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:7863183C>T ENST00000377532.3 + 8 1173 c.949C>T c.(949-951)Cgt>Tgt p.R317C PER3_ENST00000377541.1_Missense_Mutation_p.R316C|PER3_ENST00000361923.2_Missense_Mutation_p.R316C P56645 PER3_HUMAN period circadian clock 3 316 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CCCTGAAGATCGTTCTCTGAT 0.428000 28 89 0 0 0.00127121 0 0 CHRNB4 1143 broad.mit.edu 37 15 78922068 78922068 + Missense_Mutation SNP A A C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:78922068A>C ENST00000261751.3 - 5 690 c.579T>G c.(577-579)gaT>gaG p.D193E CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 193 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GAGTAAAGTCATCCATGCTGG 0.562000 40 52 0 0 0.00148497 0 0 ANKRD20A5P 440482 broad.mit.edu 37 18 14184233 14184233 + RNA SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr18:14184233G>A ENST00000581935.1 + 0 922 lung(3) 3 AATTGTCTAAGATTTTATTTT 0.269000 6 4 0 0 0.00116845 0 0 SERINC4 619189 broad.mit.edu 37 15 44087630 44087630 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:44087630G>A ENST00000299969.6 - 9 1221 c.1076C>T c.(1075-1077)tCc>tTc p.S359F SERINC4_ENST00000249714.3_Silent_p.F189F|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERINC4_ENST00000319327.6_Silent_p.F433F A6NH21 SERC4_HUMAN serine incorporator 4 0 phospholipid biosynthetic process integral to membrane central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 6 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;7.81e-07) GTGAGGCAAGGAAGAAGACGA 0.502000 48 57 0 0 0.000781405 0 0 GRIA3 2892 broad.mit.edu 37 X 122599574 122599574 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chrX:122599574G>A ENST00000264357.5 + 14 2666 c.2374G>A c.(2374-2376)Gac>Aac p.D792N GRIA3_ENST00000371251.1_Missense_Mutation_p.D792N|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000542149.1_Missense_Mutation_p.D792N NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 792 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) AGGCCTCTTGGACAAATTGAA 0.443000 40 4 0 0 0.000781405 0 0 FRY 10129 broad.mit.edu 37 13 32813472 32813472 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr13:32813472G>A ENST00000380250.3 + 45 6998 c.6502G>A c.(6502-6504)Gaa>Aaa p.E2168K NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2168 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GGATATAGCCGAAAGGATTGC 0.463000 41 34 0 0 0.00170553 0 0 VCAN 1462 broad.mit.edu 37 5 82837738 82837738 + Silent SNP A A C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:82837738A>C ENST00000265077.3 + 8 9481 c.8916A>C c.(8914-8916)acA>acC p.T2972T VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Silent_p.T1985T|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2972 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAGGTGCTACACAGTGGCCAC 0.483000 33 34 0 0 0.000814825 0 0 RPH3AL 9501 broad.mit.edu 37 17 177278 177278 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:177278C>T ENST00000323434.8 - 3 654 c.57G>A c.(55-57)cgG>cgA p.R19R RPH3AL_ENST00000536489.2_Silent_p.R19R|RPH3AL_ENST00000331302.7_Silent_p.R19R NM_001190412.1 NP_001177341.1 Q9UNE2 RPH3L_HUMAN rabphilin 3A-like (without C2 domains) 19 exocytosis|intracellular protein transport transport vesicle membrane cytoskeletal protein binding|Rab GTPase binding|zinc ion binding NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) GGGCAAGCTGCCGGTCATTGG 0.622000 17 33 0 0 0.00121646 0 0 EPHA8 2046 broad.mit.edu 37 1 22927916 22927916 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:22927916C>T ENST00000166244.3 + 16 2925 c.2853C>T c.(2851-2853)ttC>ttT p.F951F NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 951 SAM. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GAGACCACTTCGCTGCGGGCG 0.701000 16 31 0 0 0.000958276 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664240 22664240 + RNA SNP T T G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr22:22664240T>G ENST00000426066.1 + 0 763 NR_027293.1 GATAAGCTGCTGATGAGCGGT 0.532000 4 55 0 0 0.00116845 0 0 MIER3 166968 broad.mit.edu 37 5 56219569 56219569 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:56219569G>A ENST00000381226.3 - 12 1174 c.1159C>T c.(1159-1161)Cct>Tct p.P387S SETD9_ENST00000541720.1_Intron|MIER3_ENST00000381199.3_Missense_Mutation_p.P382S|MIER3_ENST00000409421.1_Missense_Mutation_p.P319S|MIER3_ENST00000381213.3_Missense_Mutation_p.P381S Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family member 3 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1) 19 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) TGTTGATCAGGAATAGGCTCA 0.418000 67 37 0 0 0.000781405 0 0 DERA 51071 broad.mit.edu 37 12 16185524 16185524 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:16185524C>T ENST00000428559.2 + 7 898 c.686C>T c.(685-687)aCc>aTc p.T229I DERA_ENST00000532964.1_Missense_Mutation_p.T186I|DERA_ENST00000526530.1_Missense_Mutation_p.T141I|DERA_ENST00000532573.1_3'UTR NM_015954.2 NP_057038.2 Q9Y315 DEOC_HUMAN deoxyribose-phosphate aldolase (putative) 229 deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process cytoplasm deoxyribose-phosphate aldolase activity|protein binding endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 Hepatocellular(102;0.121) GTAAATGCCACCTTCCCGGTA 0.343000 5 4 0 0 0.000157383 0 0 CEP63 80254 broad.mit.edu 37 3 134250777 134250777 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:134250777G>A ENST00000337090.3 + 4 486 c.313G>A c.(313-315)Gaa>Aaa p.E105K CEP63_ENST00000332047.5_Missense_Mutation_p.E105K|CEP63_ENST00000383229.3_Missense_Mutation_p.E105K|CEP63_ENST00000513612.2_Missense_Mutation_p.E105K|CEP63_ENST00000354446.3_Missense_Mutation_p.E105K|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000606977.1_Missense_Mutation_p.E105K Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 105 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GAAACTACATGAAGAAGTGAG 0.358000 9 26 0 0 0.000274275 0 0 ZNF215 7762 broad.mit.edu 37 11 6977392 6977392 + Missense_Mutation SNP T T C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:6977392T>C ENST00000278319.5 + 7 1772 c.1184T>C c.(1183-1185)aTt>aCt p.I395T ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.I395T NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 395 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TCATCCCTTATTCGACATCAG 0.383000 34 41 0 0 0.000814825 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26873441 26873441 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:26873441C>T ENST00000374168.2 + 3 346 c.192C>T c.(190-192)ctC>ctT p.L64L RPS6KA1_ENST00000530003.1_Silent_p.L48L|RPS6KA1_ENST00000526792.1_5'UTR|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000374166.4_Silent_p.L64L|RPS6KA1_ENST00000531382.1_Silent_p.L73L NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 64 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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 cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) ATTTCGAGCTCCTCAAGGTTC 0.562000 29 20 0 0 0.00209593 0 0 CNTN5 53942 broad.mit.edu 37 11 100226921 100226921 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:100226921G>A ENST00000524871.1 + 25 3563 c.3273G>A c.(3271-3273)ttG>ttA p.L1091L CNTN5_ENST00000418526.2_Silent_p.L1017L|CNTN5_ENST00000279463.3_Silent_p.L1091L|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Silent_p.L1091L NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 1091 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCTTGCTCTTGGCATTGATGA 0.423000 12 20 0 0 0.00185496 0 0 OR4K1 79544 broad.mit.edu 37 14 20403845 20403845 + Missense_Mutation SNP C C T rs146809169 TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:20403845C>T ENST00000285600.4 + 1 79 c.20C>T c.(19-21)tCg>tTg p.S7L NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ACAAATGAATCGATGGTGTCT 0.348000 45 283 0 0 0.000781405 0 0 OR7E24 26648 broad.mit.edu 37 19 9362107 9362107 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:9362107G>A ENST00000456448.1 + 1 502 c.388G>A c.(388-390)Gac>Aac p.D130N NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 ATGTATGGATGACATGCTCCT 0.488000 27 44 0 0 0.000878237 0 0 ALKBH2 121642 broad.mit.edu 37 12 109527892 109527892 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:109527892C>T ENST00000429722.2 - 3 764 c.401G>A c.(400-402)tGg>tAg p.W134* ALKBH2_ENST00000440112.2_Intron|ALKBH2_ENST00000343075.3_Nonsense_Mutation_p.W134* NM_001145374.1 NP_001138846.1 Q6NS38 ALKB2_HUMAN alkB, alkylation repair homolog 2 (E. coli) 134 DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(3)|large_intestine(1)|lung(3) 8 Vitamin C(DB00126) AACTGGGATCCAGGGCTTTGG 0.557000 Direct reversal of damage 22 42 0 0 0.00152264 0 0 OR4X1 390113 broad.mit.edu 37 11 48286316 48286316 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:48286316G>A ENST00000320048.1 + 1 904 c.904G>A c.(904-906)Gga>Aga p.G302R NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 ATTTATTGGGGGAAAAGTAAT 0.398000 14 24 0 0 0.00185496 0 0 CCSER1 401145 broad.mit.edu 37 4 91645067 91645067 + Missense_Mutation SNP T T G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:91645067T>G ENST00000509176.1 + 7 2223 c.1935T>G c.(1933-1935)agT>agG p.S645R CCSER1_ENST00000504150.1_3'UTR|CCSER1_ENST00000333691.8_Missense_Mutation_p.S645R|CCSER1_ENST00000432775.2_Missense_Mutation_p.S645R NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 CCTTGCAGAGTGCAGACATGA 0.328000 4 0 0 0 0.00024832 0 0 AFF1 4299 broad.mit.edu 37 4 88048236 88048236 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:88048236C>T ENST00000307808.6 + 14 3269 c.2849C>T c.(2848-2850)tCt>tTt p.S950F AFF1_ENST00000395146.4_Missense_Mutation_p.S957F|AFF1_ENST00000544085.1_Missense_Mutation_p.S588F NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 950 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AATGGTAACTCTAAACCAGGG 0.388000 84 48 0 0 0.000781405 0 0 SNHG14 104472715 broad.mit.edu 37 15 25476051 25476051 + RNA SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:25476051G>A ENST00000453082.2 + 0 1523 SNORD115-33_ENST00000363723.1_RNA NR_003343.1 TGCTCAATAGGATTACGCTGA 0.517000 71 116 0 0 0.000781405 0 0 PLCH2 9651 broad.mit.edu 37 1 2410049 2410049 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:2410049G>A ENST00000449969.1 + 2 339 c.178G>A c.(178-180)Gag>Aag p.E60K PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.E87K|PLCH2_ENST00000288766.5_Missense_Mutation_p.E42K|PLCH2_ENST00000419816.2_Missense_Mutation_p.E87K|PLCH2_ENST00000378488.3_Missense_Mutation_p.E87K O75038 PLCH2_HUMAN phospholipase C, eta 2 87 Necessary for plasma membrane localization (By similarity).|PH. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) ACGCAAGAACGAGAAGGCCAA 0.652000 5 5 0 0 0.00198382 0 0 REV1 51455 broad.mit.edu 37 2 100058829 100058829 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:100058829C>T ENST00000258428.3 - 5 681 c.453G>A c.(451-453)gaG>gaA p.E151E REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.E151E NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 151 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCAGAGGATCCTCAGGTCTGC 0.458000 Direct reversal of damage 35 38 0 0 0.000814825 0 0 CHD3 1107 broad.mit.edu 37 17 7796803 7796803 + Missense_Mutation SNP T T C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:7796803T>C ENST00000380358.4 + 5 887 c.886T>C c.(886-888)Tcc>Ccc p.S296P CHD3_ENST00000358181.4_Missense_Mutation_p.S237P|CHD3_ENST00000330494.7_Missense_Mutation_p.S237P NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 237 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CATAGCACCCTCCGGACCCCC 0.652000 5 2 0 0 0.00198382 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542936 133542936 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:133542936G>A ENST00000409261.1 - 14 1821 c.1448C>T c.(1447-1449)tCc>tTc p.S483F NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S483F|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 483 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGCTAAGGTGGAAGGGTCATC 0.527000 60 63 0 0 0.000781405 0 0 TRAJ12 28743 broad.mit.edu 37 14 23000893 23000893 + RNA SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:23000893G>A ENST00000390525.1 + 0 5 ACTGTGGGATGGATAGCAGCT 0.453000 49 36 0 0 0.000781405 0 0 ADAM7 8756 broad.mit.edu 37 8 24350737 24350737 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:24350737G>A ENST00000175238.6 + 16 1920 c.1837G>A c.(1837-1839)Gga>Aga p.G613R ADAM7_ENST00000380789.1_Missense_Mutation_p.G613R|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G385R NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 613 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ATGTGGAGAGGGAATGGTAAG 0.368000 13 19 0 0 0.00136819 0 0 OR6A2 8590 broad.mit.edu 37 11 6816642 6816642 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:6816642C>T ENST00000332601.3 - 1 486 c.298G>A c.(298-300)Gag>Aag p.E100K NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATGCATCCCTCAAAGGAGATT 0.473000 25 39 0 0 0.000720815 0 0 ITIH4 3700 broad.mit.edu 37 3 52857968 52857968 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:52857968G>A ENST00000266041.4 - 10 1320 c.1224C>T c.(1222-1224)ggC>ggT p.G408G ITIH4_ENST00000406595.1_Silent_p.G408G|ITIH4_ENST00000485816.1_Silent_p.G408G|ITIH4_ENST00000346281.5_Silent_p.G408G|ITIH4_ENST00000434759.3_Silent_p.G320G|ITIH4-AS1_ENST00000478366.1_RNA NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 408 VWFA. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GGCTGTACCGGCCACTTACAG 0.582000 17 18 0 0 0.00121646 0 0 HNF4G 3174 broad.mit.edu 37 8 76465432 76465432 + Splice_Site SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:76465432G>A ENST00000396423.2 + 5 739 c.615_splice c.e5+1 p.Q205_splice HNF4G_ENST00000354370.1_Splice_Site_p.Q168_splice NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 168 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TGGATGATCAGGTACACATTT 0.318000 35 54 0 0 0.000814825 0 0 KRT25 147183 broad.mit.edu 37 17 38906748 38906748 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:38906748G>A ENST00000312150.4 - 6 1119 c.1059C>T c.(1057-1059)caC>caT p.H353H NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 353 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TTCTGACCTGGTGCAGCTGCT 0.572000 93 112 0 0 0.000781405 0 0 PTPRD 5789 broad.mit.edu 37 9 8338947 8338947 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:8338947C>T ENST00000381196.4 - 40 5897 c.5354G>A c.(5353-5355)aGg>aAg p.R1785K PTPRD_ENST00000540109.1_Missense_Mutation_p.R1785K|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1772K|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1375K|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1763K|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1378K|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1785K|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1379K|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1378K|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1378K|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1375K NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1785 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTTGAATTCCCTTAGGATATA 0.448000 TSP Lung(15;0.13) 57 10 0 0 0.000781405 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69049478 69049478 + Missense_Mutation SNP G G C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:69049478G>C ENST00000295381.3 + 10 1623 c.1204G>C c.(1204-1206)Gac>Cac p.D402H ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D395H|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D363H|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D403H|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D96H|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D396H NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 402 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CTAGACAAGCGACTCTGATAC 0.507000 46 91 0 0 0.000781405 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962468 73962468 + Missense_Mutation SNP G G T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chrX:73962468G>T ENST00000373468.1 - 3 2575 c.1924C>A c.(1924-1926)Cca>Aca p.P642T KIAA2022_ENST00000055682.5_Missense_Mutation_p.P642T Q5QGS0 K2022_HUMAN KIAA2022 642 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCAATGGATGGGATTCTTTGA 0.403000 14 3 2.32078e-09 1.00027e-08 0.000308642 1 0 PKD1L2 114780 broad.mit.edu 37 16 81249940 81249940 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:81249940G>A ENST00000599697.1 - 2 372 c.373C>T c.(373-375)Cct>Tct p.P125S PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 125 C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CAGGTGTCAGGGGCAGCGGCG 0.652000 13 31 0 0 0.000566183 0 0 PRPF40A 55660 broad.mit.edu 37 2 153520278 153520278 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:153520278C>T ENST00000410080.1 - 19 2520 c.1979G>A c.(1978-1980)gGa>gAa p.G660E NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 687 FF 4. mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 AACTACAAATCCTTTATCCTA 0.269000 23 39 0 0 0.00278032 0 0 ETFB 2109 broad.mit.edu 37 19 51856511 51856511 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:51856511C>T ENST00000354232.4 - 2 2990 c.523G>A c.(523-525)Gac>Aac p.D175N ETFB_ENST00000309244.4_Missense_Mutation_p.D84N|CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_3'UTR NM_001014763.1 NP_001014763.1 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 84 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity p.D175Y(1) kidney(2)|large_intestine(1)|lung(3) 6 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) ATACCTCGGTCTGCACCCATG 0.637000 34 47 0 0 0.00111076 0 0 ZFP69B 65243 broad.mit.edu 37 1 40929140 40929140 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:40929140G>A ENST00000411995.2 + 6 1859 c.1484G>A c.(1483-1485)aGa>aAa p.R495K ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.R393K NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B p.R393I(1) AAACATCAGAGAATTCATACT 0.373000 32 16 0 0 0.00178596 0 0 CELSR1 9620 broad.mit.edu 37 22 46761267 46761267 + Silent SNP G G A rs138188369 byFrequency TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr22:46761267G>A ENST00000262738.3 - 32 8414 c.8415C>T c.(8413-8415)tcC>tcT p.S2805S NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2805 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TATCTGAGTCGGAATCGTGGC 0.637000 12 16 0 0 0.000308642 0 0 ALG1 56052 broad.mit.edu 37 16 5123177 5123177 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:5123177G>A ENST00000262374.5 + 3 341 c.310G>A c.(310-312)Gga>Aga p.G104R ALG1_ENST00000588623.1_5'UTR|ALG1_ENST00000544428.1_5'UTR NM_019109.4 NP_061982.3 Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 104 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) TTTCCAGTACGGAGTCAAAGT 0.512000 20 37 0 0 0.00152264 0 0 NLGN1 22871 broad.mit.edu 37 3 173998987 173998987 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:173998987C>T ENST00000457714.1 + 7 2795 c.2366C>T c.(2365-2367)cCa>cTa p.P789L NLGN1_ENST00000401917.3_Missense_Mutation_p.P829L|NLGN1_ENST00000545397.1_Missense_Mutation_p.P789L|NLGN1_ENST00000361589.4_Missense_Mutation_p.P789L NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 806 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) AACACTATACCAGGGATTCAG 0.483000 35 29 0 0 0.00283554 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994617 140994617 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chrX:140994617C>T ENST00000285879.4 + 4 1713 c.1427C>T c.(1426-1428)tCt>tTt p.S476F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 476 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCCCAGTCTCCTCTCCAG 0.468000 HNSCC(15;0.026) 101 11 0 0 0.000781405 0 0 DLGAP2 9228 broad.mit.edu 37 8 1581039 1581039 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:1581039C>T ENST00000421627.2 + 5 1531 c.1397C>T c.(1396-1398)tCc>tTc p.S466F NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 545 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GTGTGCGAGTCCGTCTTCAGT 0.582000 15 6 0 0 0.000566183 0 0 ZNF750 79755 broad.mit.edu 37 17 80788605 80788605 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:80788605C>T ENST00000269394.3 - 3 2418 c.1585G>A c.(1585-1587)Gaa>Aaa p.E529K TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.E130K NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 529 intracellular zinc ion binding p.E529K(2) NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TACGTGGGTTCGTGGGTGGCT 0.617000 38 37 0 0 0.00170553 0 0 FLVCR1 28982 broad.mit.edu 37 1 213032489 213032489 + Missense_Mutation SNP A A C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:213032489A>C ENST00000366971.4 + 1 893 c.695A>C c.(694-696)aAa>aCa p.K232T NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 232 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) TTTGGGCCCAAAGAGGTGTCC 0.562000 20 59 0 0 0.00229938 0 0 OR11A1 26531 broad.mit.edu 37 6 29394760 29394760 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr6:29394760G>A ENST00000377149.1 - 5 1131 c.659C>T c.(658-660)gCc>gTc p.A220V OR11A1_ENST00000377148.1_Missense_Mutation_p.A220V|OR11A1_ENST00000377147.2_Missense_Mutation_p.A220V|OR5V1_ENST00000377154.1_Intron Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 CACAATTCTGGCATAAGATGT 0.522000 19 15 0 0 0.00074312 0 0 SPOCD1 90853 broad.mit.edu 37 1 32280643 32280643 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:32280643G>A ENST00000360482.2 - 2 421 c.292C>T c.(292-294)Cct>Tct p.P98S SPOCD1_ENST00000533231.1_Missense_Mutation_p.P98S|SPOCD1_ENST00000373648.2_Missense_Mutation_p.P98S|SPOCD1_ENST00000257100.3_Intron NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 98 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TGGAGCCCAGGAGCCAGCATC 0.627000 24 17 0 0 0.000586117 0 0 KCNH7 90134 broad.mit.edu 37 2 163292066 163292066 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:163292066G>A ENST00000332142.5 - 8 1695 c.1596C>T c.(1594-1596)ctC>ctT p.L532L KCNH7_ENST00000328032.4_Silent_p.L525L NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 532 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GCACAAGACGGAGGAGTCGGG 0.443000 29 34 0 0 0.00178596 0 0 CENPM 79019 broad.mit.edu 37 22 42335114 42335114 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr22:42335114C>T ENST00000402338.1 - 5 628 c.387G>A c.(385-387)ctG>ctA p.L129L CENPM_ENST00000215980.5_Silent_p.L163L|CENPM_ENST00000407253.3_3'UTR|CENPM_ENST00000404067.1_3'UTR|CENPM_ENST00000472374.2_Silent_p.L41L Q9NSP4 CENPM_HUMAN centromere protein M 163 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus kidney(1)|large_intestine(1)|prostate(1) 3 ACAGCAGGTTCAGAGCTGAGA 0.667000 16 19 0 0 0.000422831 0 0 TMEM41B 440026 broad.mit.edu 37 11 9310040 9310040 + Missense_Mutation SNP T T C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:9310040T>C ENST00000528080.1 - 4 749 c.411A>G c.(409-411)atA>atG p.I137M TMEM41B_ENST00000527813.1_Missense_Mutation_p.I137M NM_015012.3 NP_055827.1 Q5BJD5 TM41B_HUMAN transmembrane protein 41B 137 integral to membrane kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2) 7 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) ACCCTGAGAGTATACTGAGAA 0.294000 34 32 0 0 0.000953801 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45556242 45556242 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr18:45556242C>T ENST00000588982.1 - 4 1750 c.1249G>A c.(1249-1251)Gag>Aag p.E417K ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E417K|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E417K|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E417K|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E417K A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 417 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TAGGGCCGCTCCCCTGTGTGC 0.592000 18 17 0 0 0.00152264 0 0 GSDMB 55876 broad.mit.edu 37 17 38062460 38062460 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:38062460G>A ENST00000394175.2 - 5 949 c.726C>T c.(724-726)gtC>gtT p.V242V GSDMB_ENST00000418519.1_Silent_p.V264V|GSDMB_ENST00000394179.1_Silent_p.V259V|GSDMB_ENST00000360317.3_Silent_p.V264V|GSDMB_ENST00000309481.7_Silent_p.V251V|GSDMB_ENST00000520542.1_Silent_p.V255V NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 259 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 GGTCCTTGAGGACACTCTCCA 0.502000 35 50 0 0 0.000814825 0 0 SPEF2 79925 broad.mit.edu 37 5 35654808 35654808 + Missense_Mutation SNP A A C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:35654808A>C ENST00000440995.2 + 7 958 c.958A>C c.(958-960)Ata>Cta p.I320L SPEF2_ENST00000356031.3_Missense_Mutation_p.I320L|SPEF2_ENST00000509059.1_Missense_Mutation_p.I320L|SPEF2_ENST00000282469.6_Missense_Mutation_p.I320L Q9C093 SPEF2_HUMAN sperm flagellar 2 320 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGACCAGTTAATAGCCCACGA 0.378000 14 20 0 0 0.000566183 0 0 MROH2B 133558 broad.mit.edu 37 5 41000352 41000352 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:41000352C>T ENST00000399564.4 - 39 4902 c.4452G>A c.(4450-4452)agG>agA p.R1484R MROH2B_ENST00000506092.2_Silent_p.R1039R NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TGTAGAAATCCCTGGCCCTTG 0.502000 23 31 0 0 0.000586117 0 0 NPAS4 266743 broad.mit.edu 37 11 66191075 66191075 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:66191075G>A ENST00000311034.2 + 6 1011 c.835G>A c.(835-837)Gag>Aag p.E279K NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 279 PAC. transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 TATTCAGGCAGAGATGGTGGT 0.517000 36 37 0 0 0.00128727 0 0 ESF1 51575 broad.mit.edu 37 20 13695681 13695681 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr20:13695681C>T ENST00000202816.1 - 14 2503 c.2396G>A c.(2395-2397)cGg>cAg p.R799Q NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 799 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TTGTTCTTTCCGTTCTCTTTG 0.393000 47 93 0 0 0.000781405 0 0 SLC28A2 9153 broad.mit.edu 37 15 45562453 45562453 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:45562453G>A ENST00000347644.3 + 15 1692 c.1627G>A c.(1627-1629)Gga>Aga p.G543R CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 543 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TAGTTCCATAGGAATCACACT 0.433000 41 50 0 0 0.00285205 0 0 PKD1L2 114780 broad.mit.edu 37 16 81249941 81249941 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:81249941G>A ENST00000599697.1 - 2 371 c.372C>T c.(370-372)gcC>gcT p.A124A PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 124 C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGGTGTCAGGGGCAGCGGCGG 0.647000 13 31 0 0 0.000566183 0 0 FAT3 120114 broad.mit.edu 37 11 92615911 92615911 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:92615911G>A ENST00000298047.6 + 23 12306 c.12289G>A c.(12289-12291)Gag>Aag p.E4097K FAT3_ENST00000525166.1_Missense_Mutation_p.E3947K|FAT3_ENST00000533797.1_Missense_Mutation_p.E432K|FAT3_ENST00000409404.2_Missense_Mutation_p.E4097K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4097 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAGGTGTGAGGAGGACATCAA 0.572000 TCGA Ovarian(4;0.039) 82 116 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179477898 179477898 + Silent SNP C C T rs7355450 TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:179477898C>T ENST00000589042.1 - 264 49862 c.49638G>A c.(49636-49638)aaG>aaA p.K16546K TTN_ENST00000342175.6_Silent_p.K7673K|TTN_ENST00000460472.2_Silent_p.K7481K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.K7606K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.K13978K|TTN_ENST00000591111.1_Silent_p.K14905K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14905 Fibronectin type-III 20. 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) CTATGGGATCCTTTATTAAGA 0.333000 22 27 0 0 0.00152264 0 0 PRPF40B 25766 broad.mit.edu 37 12 50036041 50036041 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:50036041G>A ENST00000261897.1 + 19 2354 c.1803G>A c.(1801-1803)cgG>cgA p.R601R PRPF40B_ENST00000548825.2_Silent_p.R636R|PRPF40B_ENST00000380281.1_Silent_p.R614R|FMNL3_ENST00000335154.5_3'UTR Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 614 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CAGAGGCACGGGAGAGGGAGC 0.627000 25 55 0 0 0.000586117 0 0 DNAH5 1767 broad.mit.edu 37 5 13769624 13769624 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:13769624C>T ENST00000265104.4 - 57 9810 c.9706G>A c.(9706-9708)Gat>Aat p.D3236N DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3236 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGGCTTTATCGTTGGCCACT 0.418000 Kartagener syndrome 34 52 0 0 0.00111076 0 0 CUBN 8029 broad.mit.edu 37 10 16967390 16967390 + Missense_Mutation SNP A A C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr10:16967390A>C ENST00000377833.4 - 43 6561 c.6496T>G c.(6496-6498)Ttg>Gtg p.L2166V NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2166 CUB 15. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGGGGTCCCAAGGGTGGAGAA 0.388000 25 3 0 0 0.000720815 0 0 TNS4 84951 broad.mit.edu 37 17 38635929 38635929 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:38635929C>T ENST00000254051.6 - 10 2065 c.1907G>A c.(1906-1908)aGg>aAg p.R636K NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 636 Phosphatase tensin-type. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CCCTTACTTCCTCTGGACATC 0.587000 19 34 0 0 0.00188189 0 0 CCDC85B 11007 broad.mit.edu 37 11 65658858 65658858 + Missense_Mutation SNP G G T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:65658858G>T ENST00000312579.2 + 1 984 c.604G>T c.(604-606)Gat>Tat p.D202Y NM_006848.2 NP_006839.2 Q15834 CC85B_HUMAN coiled-coil domain containing 85B 202 cell differentiation|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus protein binding READ - Rectum adenocarcinoma(159;0.166) TTCCCCCGATGATTGAAGGCA 0.711000 4 7 3.59834e-05 0.000153801 0.00116845 1 0 HNRNPL 3191 broad.mit.edu 37 19 39330868 39330868 + Silent SNP T T G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:39330868T>G ENST00000221419.5 - 8 1467 c.1101A>C c.(1099-1101)ccA>ccC p.P367P HNRNPL_ENST00000600873.1_Silent_p.P234P NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 367 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding p.P367P(1)|p.P234P(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GGGGAGGGGGTGGGGGGTGCC 0.642000 3 9 0 0 0.000157383 0 0 AHNAK 79026 broad.mit.edu 37 11 62300587 62300587 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:62300587C>T ENST00000378024.4 - 5 1576 c.1302G>A c.(1300-1302)atG>atA p.M434I AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 434 nervous system development nucleus protein binding p.M434I(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGGGGACTTTCATCTTGGGCA 0.542000 30 30 0 0 0.00209593 0 0 CT47B1 643311 broad.mit.edu 37 X 120009363 120009363 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chrX:120009363G>A ENST00000371311.3 - 1 416 c.162C>T c.(160-162)gtC>gtT p.V54V NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 54 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CGGGCCCTGCGACTCCGACCA 0.736000 30 5 0 0 0.00209593 0 0 CD109 135228 broad.mit.edu 37 6 74493477 74493477 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr6:74493477C>T ENST00000437994.2 + 19 2584 c.2153C>T c.(2152-2154)aCt>aTt p.T718I CD109_ENST00000422508.2_Missense_Mutation_p.T641I|CD109_ENST00000287097.5_Missense_Mutation_p.T718I NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 718 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GATTCTATCACTTCTTGGGTG 0.368000 30 15 0 0 0.00127121 0 0 ELFN2 114794 broad.mit.edu 37 22 37769437 37769437 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr22:37769437G>A ENST00000402918.1 - 3 2923 c.2138C>T c.(2137-2139)cCc>cTc p.P713L RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.P713L NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 713 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) GTACAGGGCGGGAAAGCTGTG 0.711000 6 7 0 0 0.00116845 0 0 SLC6A19 340024 broad.mit.edu 37 5 1201811 1201811 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:1201811C>T ENST00000304460.10 + 1 102 c.46C>T c.(46-48)Ccg>Tcg p.P16S NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 16 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CGCCCGGATCCCGTCCCTGGC 0.677000 7 9 0 0 0.000157383 0 0 PPA1 5464 broad.mit.edu 37 10 71990114 71990114 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr10:71990114G>A ENST00000373232.2 - 2 205 c.106C>T c.(106-108)Cca>Tca p.P36S PPA1_ENST00000460755.1_5'UTR|PPA1_ENST00000373230.4_Missense_Mutation_p.P36S NM_021129.3 NP_066952.1 Q15181 IPYR_HUMAN pyrophosphatase (inorganic) 1 36 diphosphate metabolic process|tRNA aminoacylation for protein translation cytosol inorganic diphosphatase activity|magnesium ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2) 10 GCATAAATTGGAATATCATGA 0.299000 23 2 0 0 0.000878237 0 0 TRPS1 7227 broad.mit.edu 37 8 116616406 116616406 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:116616406G>A ENST00000395715.3 - 4 2367 c.1790C>T c.(1789-1791)cCg>cTg p.P597L TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Missense_Mutation_p.P584L|TRPS1_ENST00000520276.1_Missense_Mutation_p.P588L|TRPS1_ENST00000519674.1_Missense_Mutation_p.P584L NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 584 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P584L(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ACAAGCAAACGGATAAGTAAT 0.468000 Langer-Giedion syndrome 20 66 0 0 0.00152264 0 0 RBL2 5934 broad.mit.edu 37 16 53515595 53515595 + Missense_Mutation SNP C C A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:53515595C>A ENST00000262133.6 + 21 3234 c.3097C>A c.(3097-3099)Cca>Aca p.P1033T RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1033 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GGATGCTCCTCCACTCTCTCC 0.333000 23 219 3.01185e-09 1.29451e-08 0.000586117 1 0 KGFLP2 654466 broad.mit.edu 37 9 41963939 41963939 + RNA SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:41963939A>G ENST00000454645.1 - 0 656 NR_003670.1 GATTTCCATGATATCTGCAAG 0.408000 6 37 0 0 0.000157383 0 0 MKL2 57496 broad.mit.edu 37 16 14341258 14341258 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:14341258C>T ENST00000571589.1 + 12 2313 c.2141C>T c.(2140-2142)cCc>cTc p.P714L MKL2_ENST00000574045.1_Intron|MKL2_ENST00000341243.5_Missense_Mutation_p.P703L|MKL2_ENST00000318282.5_Intron NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 703 Gln-rich. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTTGCTCAGCCCCAGGCTTTA 0.592000 23 14 0 0 0.00229938 0 0 HELB 92797 broad.mit.edu 37 12 66725086 66725086 + Silent SNP T T C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:66725086T>C ENST00000247815.4 + 12 2882 c.2823T>C c.(2821-2823)ttT>ttC p.F941F NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 941 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AAAACAGTTTTCCTAGAAAAA 0.517000 30 19 0 0 0.00209593 0 0 LRRC6 23639 broad.mit.edu 37 8 133669119 133669119 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:133669119C>T ENST00000519595.1 - 3 311 c.213G>A c.(211-213)ttG>ttA p.L71L LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Silent_p.L71L|LRRC6_ENST00000250173.1_Silent_p.L71L Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 71 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AAGCTAAATTCAAATATTCAA 0.229000 6 31 0 0 0.000157383 0 0 PTGS1 5742 broad.mit.edu 37 9 125146022 125146022 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:125146022C>T ENST00000362012.2 + 8 1002 c.997C>T c.(997-999)Ctc>Ttc p.L333F PTGS1_ENST00000373698.5_Missense_Mutation_p.L224F|PTGS1_ENST00000223423.4_Missense_Mutation_p.L333F|PTGS1_ENST00000540753.1_Missense_Mutation_p.L308F NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 333 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) GACGACCCGCCTCATCCTCAT 0.612000 17 23 0 0 0.00121646 0 0 C5orf24 134553 broad.mit.edu 37 5 134190754 134190754 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:134190754G>A ENST00000394976.3 + 2 392 c.164G>A c.(163-165)aGg>aAg p.R55K C5orf24_ENST00000338051.4_Missense_Mutation_p.R55K|C5orf24_ENST00000435259.2_Missense_Mutation_p.R55K|C5orf24_ENST00000504727.1_Missense_Mutation_p.R55K NM_001135586.1 NP_001129058.1 Q7Z6I8 CE024_HUMAN chromosome 5 open reading frame 24 55 breast(2)|endometrium(2)|lung(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTTTGTCAGAGGCAAGACCCA 0.403000 39 88 0 0 0.00170553 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117424487 117424487 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr7:117424487G>A ENST00000160373.3 - 5 2181 c.2090C>T c.(2089-2091)cCt>cTt p.P697L NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 697 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CATTAGCAAAGGGGTTAGGGA 0.507000 90 5 0 0 0.000781405 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 68 4 0 0 0.000781405 0 0 CEACAM21 90273 broad.mit.edu 37 19 42085674 42085674 + Silent SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:42085674A>G ENST00000407170.2 + 4 822 c.9A>G c.(7-9)ccA>ccG p.P3P CEACAM21_ENST00000187608.9_Intron|CEACAM21_ENST00000401445.2_Intron|CEACAM21_ENST00000482870.2_Intron Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 0 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 GCATGGCCCCAAGACACTTTC 0.512000 18 24 0 0 0.00121646 0 0 EIF5B 9669 broad.mit.edu 37 2 99988138 99988138 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:99988138G>A ENST00000289371.5 + 9 1699 c.1497G>A c.(1495-1497)gaG>gaA p.E499E NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 499 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AAGATACTGAGGATGCTGGAT 0.338000 16 22 0 0 0.00152264 0 0 ZIC2 7546 broad.mit.edu 37 13 100635129 100635129 + Missense_Mutation SNP A A C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr13:100635129A>C ENST00000376335.3 + 1 1104 c.811A>C c.(811-813)Aag>Cag p.K271Q NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 271 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAATCCCAAGAAGAGCTGCAA 0.582000 20 61 0 0 0.00278032 0 0 OR1D2 4991 broad.mit.edu 37 17 2995982 2995982 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:2995982G>A ENST00000331459.1 - 1 308 c.309C>T c.(307-309)ttC>ttT p.F103F NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 103 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 AGGAGACCAGGAAGTAGAGCT 0.542000 80 77 0 0 0.000781405 0 0 SCG2 7857 broad.mit.edu 37 2 224462334 224462334 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:224462334G>A ENST00000305409.2 - 2 1899 c.1667C>T c.(1666-1668)tCt>tTt p.S556F NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 556 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) AGTCTCCTGAGAGCTGCCTTG 0.517000 29 34 0 0 0.00127121 0 0 SLC30A5 64924 broad.mit.edu 37 5 68412402 68412402 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:68412402G>A ENST00000396591.3 + 10 1864 c.1254G>A c.(1252-1254)caG>caA p.Q418Q CTC-498J12.3_ENST00000504129.1_RNA NM_022902.4 NP_075053.2 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), member 5 418 cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) ACTCTAGGCAGATCTTTTACT 0.323000 40 13 0 0 0.00222228 0 0 WDR62 284403 broad.mit.edu 37 19 36593925 36593925 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:36593925C>T ENST00000401500.2 + 28 3446 c.3411C>T c.(3409-3411)ggC>ggT p.G1137G WDR62_ENST00000270301.7_Silent_p.G1132G NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 1132 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TGGACCGAGGCGGAAGCCAGC 0.647000 18 22 0 0 0.00074312 0 0 MYL9 10398 broad.mit.edu 37 20 35177484 35177484 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr20:35177484C>T ENST00000279022.2 + 4 455 c.351C>T c.(349-351)ttC>ttT p.F117F MYL9_ENST00000346786.2_Silent_p.F63F|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 117 EF-hand 2. 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) CCGCAGGTTTCATCCATGAGG 0.602000 26 20 0 0 0.00178596 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141683 133141683 + Missense_Mutation SNP A A T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:133141683A>T ENST00000388996.4 - 15 2865 c.2445T>A c.(2443-2445)gaT>gaA p.D815E KCNQ3_ENST00000519445.1_Missense_Mutation_p.D803E|KCNQ3_ENST00000521134.1_Missense_Mutation_p.D695E NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 815 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CGAACACATAATCATCTCTGT 0.607000 18 29 0 0 0.00121646 0 0 GRK7 131890 broad.mit.edu 37 3 141497499 141497499 + Missense_Mutation SNP T T G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:141497499T>G ENST00000264952.2 + 1 510 c.373T>G c.(373-375)Ttc>Gtc p.F125V NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 125 RGS. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CCCGCAACCCTTCCTCAGCCA 0.667000 14 12 0 0 0.00185496 0 0 MME 4311 broad.mit.edu 37 3 154834527 154834527 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:154834527G>A ENST00000460393.1 + 6 634 c.514G>A c.(514-516)Gaa>Aaa p.E172K MME_ENST00000462745.1_Missense_Mutation_p.E172K|MME_ENST00000492661.1_Missense_Mutation_p.E172K|MME_ENST00000493237.1_Missense_Mutation_p.E172K|MME_ENST00000360490.2_Missense_Mutation_p.E172K NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 172 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AGTAGCAACAGAAAACTGGGA 0.343000 12 28 0 0 0.00185496 0 0 VSIG8 391123 broad.mit.edu 37 1 159827671 159827671 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:159827671G>A ENST00000368100.1 - 4 651 c.516C>T c.(514-516)ggC>ggT p.G172G NM_001013661.1 NP_001013683.1 Q5VU13 VSIG8_HUMAN V-set and immunoglobulin domain containing 8 172 Ig-like V-type 2. integral to membrane central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(112;0.0597) GGGGCTGGGAGCCCCCACTGG 0.587000 41 14 0 0 0.00285205 0 0 KRTAP21-1 337977 broad.mit.edu 37 21 32127550 32127550 + Silent SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr21:32127550A>G ENST00000335093.3 - 1 196 c.147T>C c.(145-147)ggT>ggC p.G49G NM_181619.1 NP_853650.1 Q3LI58 KR211_HUMAN keratin associated protein 21-1 49 intermediate filament breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 cagttccataaccacagccat 0.527000 54 78 0 0 0.000781405 0 0 OBSCN 84033 broad.mit.edu 37 1 228476516 228476516 + Silent SNP G G T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:228476516G>T ENST00000570156.2 + 43 11627 c.11553G>T c.(11551-11553)ctG>ctT p.L3851L OBSCN_ENST00000284548.11_Silent_p.L3422L|OBSCN_ENST00000359599.6_Silent_p.L2269L|OBSCN_ENST00000366709.4_Silent_p.L541L|OBSCN_ENST00000422127.1_Silent_p.L3422L|OBSCN_ENST00000366707.4_Silent_p.L541L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2888 Ig-like 39. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCTGTGGCCTGGCTGTGGCAG 0.627000 24 39 3.7963e-18 1.65472e-17 0.00047179 1 0 HAO2 51179 broad.mit.edu 37 1 119923791 119923791 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:119923791G>A ENST00000361035.4 + 3 405 c.122G>A c.(121-123)gGa>gAa p.G41E HAO2_ENST00000325945.3_Missense_Mutation_p.G28E NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 28 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) ATTGAAGGTGGAGCAGATGAC 0.483000 36 75 0 0 0.000692331 0 0 TESPA1 9840 broad.mit.edu 37 12 55356885 55356885 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:55356885G>A ENST00000524622.1 - 7 1044 c.383C>T c.(382-384)tCc>tTc p.S128F TESPA1_ENST00000316577.8_Missense_Mutation_p.S266F|TESPA1_ENST00000532804.1_Missense_Mutation_p.S128F|TESPA1_ENST00000449076.1_Missense_Mutation_p.S266F|TESPA1_ENST00000531122.1_Missense_Mutation_p.S128F NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 266 AATCCTGATGGATGGCACATC 0.527000 11 19 0 0 0.00185496 0 0 SETBP1 26040 broad.mit.edu 37 18 42530952 42530952 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr18:42530952C>T ENST00000282030.5 + 4 1943 c.1647C>T c.(1645-1647)gcC>gcT p.A549A NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 549 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CAGTTATGGCCACCTCTGATA 0.507000 Schinzel-Giedion syndrome 47 95 0 0 0.000781405 0 0 LRRC1 55227 broad.mit.edu 37 6 53706942 53706942 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr6:53706942G>A ENST00000370888.1 + 2 471 c.194G>A c.(193-195)gGa>gAa p.G65E LRRC1_ENST00000370882.1_Missense_Mutation_p.G65E NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 65 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CGAAAGCTTGGACTTAGTGAT 0.368000 14 48 0 0 0.00074312 0 0 GNL3 26354 broad.mit.edu 37 3 52727560 52727560 + Splice_Site SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:52727560G>A ENST00000394799.2 + 12 1498 c.1288_splice c.e12+1 p.A430_splice GNL3_ENST00000418458.1_Splice_Site_p.A442_splice NM_206825.1 NP_996561.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) 442 Intermediate (By similarity). regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) GAGCATAAGAGGTGAGAATTG 0.468000 24 67 0 0 0.00278032 0 0 RASA4CP 401331 broad.mit.edu 37 7 44069176 44069176 + RNA SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr7:44069176G>A ENST00000446874.1 - 0 677 CTTTGCCAGGGCTCGTGGGCA 0.697000 3 1 0 0 6.4e-05 0 0 CADM4 199731 broad.mit.edu 37 19 44131417 44131417 + Missense_Mutation SNP T T A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:44131417T>A ENST00000222374.2 - 3 313 c.265A>T c.(265-267)Atc>Ttc p.I89F NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 89 Ig-like V-type. cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) GAGAGCCGGATCCGCACCCGG 0.602000 17 43 0 0 0.00121646 0 0 MECOM 2122 broad.mit.edu 37 3 168834174 168834174 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:168834174G>A ENST00000464456.1 - 7 2122 c.922C>T c.(922-924)Cct>Tct p.P308S MECOM_ENST00000468789.1_Missense_Mutation_p.P308S|MECOM_ENST00000433243.2_Missense_Mutation_p.P309S|MECOM_ENST00000264674.3_Missense_Mutation_p.P373S|MECOM_ENST00000494292.1_Missense_Mutation_p.P496S|MECOM_ENST00000392736.3_Missense_Mutation_p.P308S|MECOM_ENST00000472280.1_Missense_Mutation_p.P309S|MECOM_ENST00000460814.1_Missense_Mutation_p.P308S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AAGCCGGAAGGAAACAGACCA 0.478000 13 50 0 0 0.00185496 0 0 NFIB 4781 broad.mit.edu 37 9 14120611 14120611 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:14120611C>T ENST00000380959.3 - 8 1546 c.1073G>A c.(1072-1074)cGa>cAa p.R358Q NFIB_ENST00000543693.1_Missense_Mutation_p.R106Q|NFIB_ENST00000380953.1_Missense_Mutation_p.R358Q|NFIB_ENST00000397575.3_Missense_Mutation_p.R358Q|NFIB_ENST00000397579.2_Missense_Mutation_p.R358Q|NFIB_ENST00000380924.1_Missense_Mutation_p.R106Q|NFIB_ENST00000380934.4_Missense_Mutation_p.R384Q|NFIB_ENST00000397581.2_Missense_Mutation_p.R358Q NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 358 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) AGGTGGAGTTCGAGTTGAGAT 0.458000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 10 2 0 0 0.000442599 0 0 CMTM5 116173 broad.mit.edu 37 14 23847927 23847927 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:23847927C>T ENST00000339180.4 + 3 545 c.329C>T c.(328-330)tCc>tTc p.S110F CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000359320.3_Intron|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000342473.4_Intron Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 110 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) GATCTACTCTCCCACTCAGCA 0.627000 8 22 0 0 0.000157383 0 0 ZNF600 162966 broad.mit.edu 37 19 53269225 53269225 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:53269225G>A ENST00000338230.3 - 3 2051 c.1784C>T c.(1783-1785)tCa>tTa p.S595L NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 595 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TGCCAGGTATGAATTACGCAC 0.408000 72 98 0 0 0.000781405 0 0 ZNF91 7644 broad.mit.edu 37 19 23542295 23542295 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:23542295G>A ENST00000300619.7 - 4 3691 c.3486C>T c.(3484-3486)atC>atT p.I1162I ZNF91_ENST00000397082.2_Silent_p.I1130I|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 1162 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) aaagtagtgggattacaggtg 0.443000 14 20 0 0 0.00185496 0 0 TRAF5 7188 broad.mit.edu 37 1 211545968 211545968 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:211545968C>T ENST00000261464.5 + 11 1652 c.1598C>T c.(1597-1599)gCc>gTc p.A533V TRAF5_ENST00000427925.2_Missense_Mutation_p.A427V|TRAF5_ENST00000336184.2_Missense_Mutation_p.A533V|TRAF5_ENST00000367004.3_Missense_Mutation_p.A533V NM_001033910.2 NP_001029082.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 533 MATH. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) TTGGAGAATGCCAAGAACGCC 0.473000 26 82 0 0 0.00047179 0 0 MUC16 94025 broad.mit.edu 37 19 9082453 9082453 + Missense_Mutation SNP G G T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:9082453G>T ENST00000397910.4 - 1 9565 c.9362C>A c.(9361-9363)cCa>cAa p.P3121Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3122 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAAGGATGTTGGGGTCTCAGA 0.498000 7 251 0.00198382 0.00836347 0.00198382 1 0 PAK7 57144 broad.mit.edu 37 20 9525015 9525015 + Splice_Site SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr20:9525015C>T ENST00000378429.3 - 9 2416 c.e9+1 PAK7_ENST00000353224.5_Splice_Site|PAK7_ENST00000378423.1_Splice_Site NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GACCCCCTTACCTCTGTCCCA 0.542000 67 69 0 0 0.000781405 0 0 NPR1 4881 broad.mit.edu 37 1 153665653 153665653 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:153665653C>T ENST00000368680.3 + 21 3575 c.3103C>T c.(3103-3105)Cga>Tga p.R1035* NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 1035 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) GCTGGAGCTTCGAGGGGATGT 0.562000 32 76 0 0 0.000692331 0 0 SRGAP2 23380 broad.mit.edu 37 1 206619608 206619608 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:206619608C>T ENST00000414007.1 + 14 1642 c.1642C>T c.(1642-1644)Cct>Tct p.P548S SRGAP2_ENST00000419187.2_5'UTR|SRGAP2_ENST00000471256.1_3'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 688 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) GCTGGAGGGCCCTGTCTACAG 0.587000 90 84 0 0 0.000781405 0 0 ISLR2 57611 broad.mit.edu 37 15 74426504 74426504 + Missense_Mutation SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:74426504A>G ENST00000361742.3 + 4 2178 c.1409A>G c.(1408-1410)aAc>aGc p.N470S ISLR2_ENST00000453268.2_Missense_Mutation_p.N470S|ISLR2_ENST00000445793.1_Missense_Mutation_p.N470S|ISLR2_ENST00000419208.1_Missense_Mutation_p.N470S|ISLR2_ENST00000435464.1_Missense_Mutation_p.N470S|ISLR2_ENST00000565540.1_Missense_Mutation_p.N470S|ISLR2_ENST00000565159.1_Missense_Mutation_p.N470S|ISLR2_ENST00000561975.1_Intron NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 470 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 TACGTTTCTAACCACGCGTTC 0.662000 8 10 0 0 0.000442599 0 0 NDST3 9348 broad.mit.edu 37 4 118975867 118975867 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:118975867C>T ENST00000296499.5 + 2 1205 c.802C>T c.(802-804)Caa>Taa p.Q268* NDST3_ENST00000433996.2_Nonsense_Mutation_p.Q268* NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 268 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 TGATGGAATTCAAAGGGTTCT 0.418000 45 80 0 0 0.00285205 0 0 TINF2 26277 broad.mit.edu 37 14 24709293 24709293 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:24709293C>T ENST00000267415.7 - 8 1539 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.E365K|TINF2_ENST00000558566.1_3'UTR NM_001099274.1 NP_001092744.1 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 400 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|telomeric DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) TGGCCATTTTCTTCCTCATCA 0.488000 Congenital Dyskeratosis;Ataxia Pancytopenia syndrome 57 185 0 0 0.000781405 0 0 TCERG1 10915 broad.mit.edu 37 5 145826962 145826962 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:145826962G>A ENST00000296702.5 + 1 88 c.50G>A c.(49-51)gGg>gAg p.G17E TCERG1_ENST00000394421.2_Missense_Mutation_p.G17E NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 17 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCAACCCGGGGGAGCTCAGG 0.647000 8 10 0 0 0.000442599 0 0 PTPRT 11122 broad.mit.edu 37 20 40757431 40757431 + Missense_Mutation SNP T T G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr20:40757431T>G ENST00000373198.3 - 20 3111 c.2876A>C c.(2875-2877)gAc>gCc p.D959A PTPRT_ENST00000373187.1_Missense_Mutation_p.D937A|PTPRT_ENST00000373190.1_Missense_Mutation_p.D936A|PTPRT_ENST00000373193.3_Missense_Mutation_p.D940A|PTPRT_ENST00000373184.1_Missense_Mutation_p.D927A|PTPRT_ENST00000373201.1_Missense_Mutation_p.D927A|PTPRT_ENST00000356100.2_Missense_Mutation_p.D946A NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 937 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGAGTGCGGGTCTCCATCCAG 0.537000 25 37 0 0 0.000586117 0 0 ZIM2 23619 broad.mit.edu 37 19 57293402 57293402 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:57293402C>T ENST00000391708.3 - 10 1107 c.565G>A c.(565-567)Gaa>Aaa p.E189K ZIM2_ENST00000599935.1_Missense_Mutation_p.E189K|ZIM2_ENST00000593711.1_Missense_Mutation_p.E189K|ZIM2_ENST00000221722.5_Missense_Mutation_p.E189K|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.E189K|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 p.E189*(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) GAACTAAGTTCCTCTGGGCTG 0.507000 57 68 0 0 0.000781405 0 0 SYBU 55638 broad.mit.edu 37 8 110631220 110631220 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:110631220G>A ENST00000399066.3 - 2 996 c.269C>T c.(268-270)cCc>cTc p.P90L SYBU_ENST00000440310.1_Missense_Mutation_p.P93L|SYBU_ENST00000532779.1_Missense_Mutation_p.P25L|SYBU_ENST00000424158.2_Missense_Mutation_p.P98L|SYBU_ENST00000533065.1_5'UTR|SYBU_ENST00000276646.9_Missense_Mutation_p.P93L|SYBU_ENST00000408908.2_Missense_Mutation_p.P93L|SYBU_ENST00000446070.2_Missense_Mutation_p.P92L|SYBU_ENST00000533171.1_Missense_Mutation_p.P93L|SYBU_ENST00000408889.3_5'UTR|SYBU_ENST00000528331.1_5'UTR|SYBU_ENST00000533895.1_Missense_Mutation_p.P92L|SYBU_ENST00000528647.1_Missense_Mutation_p.P92L|SYBU_ENST00000419099.1_Missense_Mutation_p.P92L|SYBU_ENST00000422135.1_Missense_Mutation_p.P93L|SYBU_ENST00000433638.1_Missense_Mutation_p.P93L NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 93 Ser-rich.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 AGCATCTGAGGGTGTCTTCAC 0.463000 24 112 0 0 0.00047179 0 0 KRT4 3851 broad.mit.edu 37 12 53207774 53207774 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:53207774G>A ENST00000551956.1 - 1 561 c.69C>T c.(67-69)ggC>ggT p.G23G KRT4_ENST00000458244.2_Silent_p.G23G|KRT4_ENST00000293774.4_Silent_p.G97G B4DRS2 B4DRS2_HUMAN keratin 4 23 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 TCTTGCCACCGCCTACAATGG 0.617000 32 34 0 0 0.00283554 0 0 SLC35A2 7355 broad.mit.edu 37 X 48762211 48762211 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chrX:48762211G>A ENST00000376521.1 - 4 1296 c.975C>T c.(973-975)gcC>gcT p.A325A SLC35A2_ENST00000452555.2_Silent_p.A353A|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000247138.5_Silent_p.A325A|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000413561.2_Silent_p.A264A|SLC35A2_ENST00000376529.3_Intron NM_001042498.2 NP_001035963.1 P78381 S35A2_HUMAN solute carrier family 35 (UDP-galactose transporter), member A2 325 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2) 15 CAGCGCCAAGGGCAAATAATG 0.587000 9 4 0 0 0.000442599 0 0 COG6 57511 broad.mit.edu 37 13 40251631 40251631 + Missense_Mutation SNP T T C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr13:40251631T>C ENST00000416691.1 + 5 555 c.455T>C c.(454-456)gTt>gCt p.V152A COG6_ENST00000455146.3_Missense_Mutation_p.V152A NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 152 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) AGAGCTCAAGTTGCAGATGCC 0.373000 16 29 0 0 0.000308642 0 0 UBE3B 89910 broad.mit.edu 37 12 109954637 109954637 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:109954637C>T ENST00000342494.3 + 19 2619 c.2024C>T c.(2023-2025)tCt>tTt p.S675F UBE3B_ENST00000434735.2_Missense_Mutation_p.S675F|UBE3B_ENST00000280774.5_Missense_Mutation_p.S675F NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 675 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 GAAACCAGCTCTGCCTCCCCG 0.532000 36 20 0 0 0.000814825 0 0 NEU2 4759 broad.mit.edu 37 2 233899088 233899088 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:233899088C>T ENST00000233840.3 + 2 464 c.464C>T c.(463-465)tCc>tTc p.S155F NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 155 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CGGGAGTGGTCCACCTTTGCA 0.657000 9 16 0 0 0.000673444 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40293202 40293202 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:40293202C>T ENST00000263791.5 + 21 2979 c.2936C>T c.(2935-2937)tCc>tTc p.S979F EIF2AK4_ENST00000382727.2_Missense_Mutation_p.S951F NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 979 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) TCAGTCATCTCCTGGCTGTTG 0.517000 93 143 0 0 0.000781405 0 0 CD109 135228 broad.mit.edu 37 6 74493476 74493476 + Missense_Mutation SNP A A T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr6:74493476A>T ENST00000437994.2 + 19 2583 c.2152A>T c.(2152-2154)Act>Tct p.T718S CD109_ENST00000422508.2_Missense_Mutation_p.T641S|CD109_ENST00000287097.5_Missense_Mutation_p.T718S NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 718 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGATTCTATCACTTCTTGGGT 0.368000 31 15 0 0 0.001512 0 0 SLC35A5 55032 broad.mit.edu 37 3 112299671 112299671 + Missense_Mutation SNP T T C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:112299671T>C ENST00000492406.1 + 6 990 c.707T>C c.(706-708)aTt>aCt p.I236T SLC35A5_ENST00000460713.1_3'UTR NM_017945.2 NP_060415.1 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 236 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1) 11 CATGTTCTTATTATAGTCCAG 0.403000 37 35 0 0 0.000953801 0 0 RB1CC1 9821 broad.mit.edu 37 8 53569134 53569134 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:53569134C>T ENST00000025008.5 - 15 3778 c.3255G>A c.(3253-3255)caG>caA p.Q1085Q RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.Q1085Q|RB1CC1_ENST00000539297.1_Silent_p.Q1085Q NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 1085 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding p.Q1085Q(1) NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) AGGTCTCCTTCTGCTGGGCTC 0.358000 35 49 0 0 0.00283554 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39418954 39418954 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr22:39418954C>T ENST00000216099.7 + 2 552 c.145C>T c.(145-147)Ctt>Ttt p.L49F APOBEC3D_ENST00000427494.2_Missense_Mutation_p.L49F|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.L49F NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 49 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) CTCAAATCTCCTTTGGGACAC 0.488000 40 51 0 0 0.00222228 0 0 SRGAP2 23380 broad.mit.edu 37 1 206619607 206619607 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:206619607C>T ENST00000414007.1 + 14 1641 c.1641C>T c.(1639-1641)ggC>ggT p.G547G SRGAP2_ENST00000419187.2_5'UTR|SRGAP2_ENST00000471256.1_3'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 687 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) AGCTGGAGGGCCCTGTCTACA 0.587000 90 85 0 0 0.000781405 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348234 89348234 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:89348234G>A ENST00000301030.4 - 9 5176 c.4716C>T c.(4714-4716)ctC>ctT p.L1572L ANKRD11_ENST00000378330.2_Silent_p.L1572L NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1572 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) CGTCCCCCAGGAGCTTCTCCC 0.577000 9 22 0 0 0.000442599 0 0 C5AR2 27202 broad.mit.edu 37 19 47844173 47844173 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:47844173C>T ENST00000595464.1 + 2 335 c.117C>T c.(115-117)ctC>ctT p.L39L C5AR2_ENST00000257267.2_Silent_p.L39L|C5AR2_ENST00000600626.1_Silent_p.L39L NM_001271749.1 NP_001258678.1 complement component 5a receptor 2 TGGCCCCGCTCCCACTGTATG 0.692000 37 43 0 0 0.00195071 0 0 SUSD4 55061 broad.mit.edu 37 1 223438040 223438040 + Missense_Mutation SNP G G T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:223438040G>T ENST00000343846.3 - 4 1289 c.656C>A c.(655-657)tCt>tAt p.S219Y SUSD4_ENST00000366878.4_Missense_Mutation_p.S219Y|SUSD4_ENST00000454695.2_Missense_Mutation_p.S59Y|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000344029.6_Missense_Mutation_p.S219Y Q5VX71 SUSD4_HUMAN sushi domain containing 4 219 Sushi 3. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) AAGATACGCAGACCCATCAAG 0.488000 57 53 4.45325e-31 1.95209e-30 0.000781405 1 0 ATXN7L2 127002 broad.mit.edu 37 1 110033883 110033883 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:110033883G>A ENST00000369870.3 + 10 1713 c.1698G>A c.(1696-1698)gaG>gaA p.E566E ATXN7L2_ENST00000459635.1_3'UTR NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 566 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) TGGAGGTGGAGGCCCCTTCTC 0.607000 197 154 0 0 0.000781405 0 0 ACD 65057 broad.mit.edu 37 16 67694194 67694194 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:67694194G>A ENST00000219251.8 - 1 519 c.188C>T c.(187-189)cCg>cTg p.P63L ACD_ENST00000393919.4_Missense_Mutation_p.P63L NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 63 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GCCTTTCCTCGGAAGAGGAAG 0.741000 16 5 0 0 0.000308642 0 0 TNS4 84951 broad.mit.edu 37 17 38635928 38635928 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:38635928C>T ENST00000254051.6 - 10 2066 c.1908G>A c.(1906-1908)agG>agA p.R636R NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 636 Phosphatase tensin-type. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GCCCTTACTTCCTCTGGACAT 0.587000 20 34 0 0 0.00229938 0 0 PDE8A 5151 broad.mit.edu 37 15 85657248 85657248 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:85657248C>T ENST00000310298.4 + 15 1582 c.1330C>T c.(1330-1332)Ctt>Ttt p.L444F PDE8A_ENST00000394553.1_Missense_Mutation_p.L444F|PDE8A_ENST00000557957.1_Missense_Mutation_p.L372F|PDE8A_ENST00000339708.5_Missense_Mutation_p.L398F O60658 PDE8A_HUMAN phosphodiesterase 8A 444 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TGCCAATGACCTTGTTGGGGG 0.423000 32 38 0 0 0.00283554 0 0 DIDO1 11083 broad.mit.edu 37 20 61537178 61537178 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr20:61537178G>A ENST00000370371.4 - 6 2004 c.1649C>T c.(1648-1650)cCc>cTc p.P550L DIDO1_ENST00000370366.1_Intron|DIDO1_ENST00000370368.1_Missense_Mutation_p.P550L|DIDO1_ENST00000395340.1_Intron|DIDO1_ENST00000354665.4_Missense_Mutation_p.P550L|DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000266071.5_Intron NM_022105.4 NP_071388.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 0 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACAGGCCCAGGGGATGGCTAT 0.562000 47 51 0 0 0.000781405 0 0 C2orf16 84226 broad.mit.edu 37 2 27804224 27804224 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:27804224G>A ENST00000408964.2 + 1 4836 c.4785G>A c.(4783-4785)agG>agA p.R1595R NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1595 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GTCCCTCTAGGAAAAACCATT 0.547000 39 50 0 0 0.00170553 0 0 SYTL3 94120 broad.mit.edu 37 6 159086619 159086619 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr6:159086619G>A ENST00000297239.9 + 4 497 c.303G>A c.(301-303)tgG>tgA p.W101* SYTL3_ENST00000360448.3_Nonsense_Mutation_p.W101*|SYTL3_ENST00000367081.3_5'UTR Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 101 RabBD. intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) CCCATGCCTGGAAGTGCACGG 0.642000 3 1 0 0 0.00024832 0 0 TAS2R5 54429 broad.mit.edu 37 7 141490305 141490305 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr7:141490305C>T ENST00000247883.4 + 1 289 c.144C>T c.(142-144)atC>atT p.I48I NM_018980.2 NP_061853.1 Q9NYW4 TA2R5_HUMAN taste receptor, type 2, member 5 48 chemosensory behavior|sensory perception of taste taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 Melanoma(164;0.0171) ACCTCATTATCCTGGGCCTGG 0.448000 70 5 0 0 0.000781405 0 0 RYR3 6263 broad.mit.edu 37 15 34080580 34080580 + Missense_Mutation SNP A A C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:34080580A>C ENST00000389232.4 + 67 9821 c.9751A>C c.(9751-9753)Atc>Ctc p.I3251L RYR3_ENST00000415757.3_Missense_Mutation_p.I3251L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3251 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGAACTCCTCATCCTGGACGA 0.552000 45 65 0 0 0.000680045 0 0 NEB 4703 broad.mit.edu 37 2 152507246 152507246 + Missense_Mutation SNP A A T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:152507246A>T ENST00000427231.2 - 53 7271 c.7069T>A c.(7069-7071)Ttc>Atc p.F2357I NEB_ENST00000604864.1_Missense_Mutation_p.F2357I|NEB_ENST00000603639.1_Missense_Mutation_p.F2357I|NEB_ENST00000397345.3_Missense_Mutation_p.F2357I|NEB_ENST00000172853.10_Missense_Mutation_p.F2357I|NEB_ENST00000409198.1_Missense_Mutation_p.F2357I NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2357 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGGCTGGAGAACTTAGTTTTC 0.458000 190 219 0 0 0.000781405 0 0 OR4M1 441670 broad.mit.edu 37 14 20248980 20248980 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:20248980C>T ENST00000315957.4 + 1 580 c.499C>T c.(499-501)Cct>Tct p.P167S NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTCGACTTCCTTTCTGTGG 0.488000 86 163 0 0 0.000781405 0 0 DDX41 51428 broad.mit.edu 37 5 176940758 176940758 + Silent SNP G G C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:176940758G>C ENST00000507955.1 - 10 1549 c.1026C>G c.(1024-1026)gcC>gcG p.A342A NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 342 Helicase ATP-binding. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) CCTCGTCCAGGGCCAGGTAGC 0.627000 9 57 0 0 0.000673444 0 0 THADA 63892 broad.mit.edu 37 2 43819134 43819134 + Missense_Mutation SNP A A C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:43819134A>C ENST00000403856.1 - 4 275 c.128T>G c.(127-129)gTg>gGg p.V43G THADA_ENST00000404790.1_Missense_Mutation_p.V43G|THADA_ENST00000405006.4_Missense_Mutation_p.V43G|THADA_ENST00000405975.2_Missense_Mutation_p.V43G|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000402360.2_Missense_Mutation_p.V43G Q6YHU6 THADA_HUMAN thyroid adenoma associated 43 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CGTGAGTTGCACACAATGTAA 0.318000 152 208 0 0 0.000781405 0 0 NKD2 85409 broad.mit.edu 37 5 1034434 1034434 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:1034434G>A ENST00000296849.5 + 6 644 c.415G>A c.(415-417)Gtc>Atc p.V139I NKD2_ENST00000274150.4_Missense_Mutation_p.V139I|NKD2_ENST00000537972.1_Missense_Mutation_p.V139I NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 139 EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) CTGCGGGAAGGTCACCAGGGA 0.612000 13 15 0 0 0.000308642 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:126707544T>G ENST00000393409.2 + 1 108 c.108T>G c.(106-108)ggT>ggG p.G36G PLXNA1_ENST00000251772.4_Silent_p.G13G NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 6 20 0 0 0.00198382 0 0 TEX30 93081 broad.mit.edu 37 13 103419826 103419826 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr13:103419826G>A ENST00000376019.1 - 3 1014 c.178C>T c.(178-180)Cgt>Tgt p.R60C TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376032.4_Missense_Mutation_p.R101C|TEX30_ENST00000376021.4_Missense_Mutation_p.R60C|TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376029.3_Intron Q5JUR7 CM027_HUMAN testis expressed 30 101 lung(1)|urinary_tract(1) 2 CCCATTGAACGACCTAAAATC 0.363000 17 6 0 0 0.000958276 0 0 FAM83B 222584 broad.mit.edu 37 6 54804969 54804969 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr6:54804969C>T ENST00000306858.7 + 5 1316 c.1200C>T c.(1198-1200)ctC>ctT p.L400L NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 400 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) TGCCATACCTCCTGCTTAATA 0.443000 52 34 0 0 0.000781405 0 0 SCRN3 79634 broad.mit.edu 37 2 175268966 175268966 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:175268966C>T ENST00000272732.6 + 5 759 c.677C>T c.(676-678)tCc>tTc p.S226F SCRN3_ENST00000409673.3_Missense_Mutation_p.S219F NM_001193528.1|NM_024583.4 NP_001180457.1|NP_078859.2 Q0VDG4 SCRN3_HUMAN secernin 3 226 proteolysis dipeptidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3) 13 OV - Ovarian serous cystadenocarcinoma(117;0.229) GCAGCATATTCCTATCTTGAC 0.403000 23 20 0 0 0.000720815 0 0 WNK2 65268 broad.mit.edu 37 9 96051722 96051722 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:96051722G>A ENST00000297954.4 + 20 4797 c.4797G>A c.(4795-4797)caG>caA p.Q1599Q WNK2_ENST00000395477.2_Silent_p.Q1562Q|WNK2_ENST00000427277.2_Silent_p.Q1174Q|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Silent_p.Q1211Q Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1599 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TGCTCTACCAGGAGCACGTGC 0.677000 21 11 0 0 0.000878237 0 0 PDS5A 23244 broad.mit.edu 37 4 39876033 39876033 + Splice_Site SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:39876033C>T ENST00000303538.8 - 20 2693 c.e20-1 NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 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 AATTAAGGTCCTGCAAAAAAT 0.368000 22 23 0 0 0.00278032 0 0 MYH8 4626 broad.mit.edu 37 17 10319023 10319023 + Nonsense_Mutation SNP G G A rs143063345 TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:10319023G>A ENST00000403437.2 - 6 608 c.514C>T c.(514-516)Cga>Tga p.R172* CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 172 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGATTCTCTCGATCTGTGAAA 0.333000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 25 13 0 0 0.00106085 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201883 140201883 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:140201883G>A ENST00000529859.1 + 1 523 c.523G>A c.(523-525)Gaa>Aaa p.E175K PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E175K|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E175K|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAATCCAAACGAATATTTTGA 0.388000 36 7 0 0 0.00283554 0 0 ADCY8 114 broad.mit.edu 37 8 131859707 131859707 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:131859707G>A ENST00000286355.5 - 11 4557 c.2465C>T c.(2464-2466)tCc>tTc p.S822F ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 822 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CACAGCTGAGGAATTGAAAGT 0.383000 HNSCC(32;0.087) 36 87 0 0 0.000680045 0 0 OR1D2 4991 broad.mit.edu 37 17 2995663 2995663 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:2995663G>A ENST00000331459.1 - 1 627 c.628C>T c.(628-630)Ccc>Tcc p.P210S NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 210 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 AATCCAAAGGGAATGAGGAAG 0.443000 62 69 0 0 0.000781405 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20368605 20368605 + RNA SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:20368605A>G ENST00000593655.1 - 0 199 GCAGGCTCCAACTTTCCAGAA 0.483000 34 61 0 0 0.00148497 0 0 NEU4 129807 broad.mit.edu 37 2 242756224 242756224 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:242756224G>A ENST00000391969.2 + 4 1048 c.337G>A c.(337-339)Gtg>Atg p.V113M NEU4_ENST00000407683.1_Missense_Mutation_p.V113M|NEU4_ENST00000405370.1_Missense_Mutation_p.V113M|NEU4_ENST00000325935.6_Missense_Mutation_p.V126M|NEU4_ENST00000404257.1_Missense_Mutation_p.V125M NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 113 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GCCTGAGGCCGTGCAGATCGC 0.711000 5 8 0 0 0.000602214 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369000 86369000 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr13:86369000G>A ENST00000400286.2 - 2 2242 c.1644C>T c.(1642-1644)tcC>tcT p.S548S NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 548 LRRCT 2. integral to membrane p.S548*(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GATGCCCGGGGGAAGTGCAGA 0.463000 36 24 0 0 0.000814825 0 0 EML5 161436 broad.mit.edu 37 14 89131701 89131701 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:89131701G>A ENST00000554922.1 - 22 3505 c.3257C>T c.(3256-3258)tCa>tTa p.S1086L EML5_ENST00000380664.5_Missense_Mutation_p.S1086L|EML5_ENST00000352093.5_Missense_Mutation_p.S1048L NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1086 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 TCGAATATCTGAAATCATATC 0.338000 17 11 0 0 0.00074312 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45506071 45506071 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:45506071C>T ENST00000359600.5 - 7 1954 c.1749G>A c.(1747-1749)caG>caA p.Q583Q NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 583 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TACCTTTCTTCTGATGCTTGT 0.488000 42 36 0 0 0.000781405 0 0 ADAM20 8748 broad.mit.edu 37 14 70990899 70990899 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:70990899G>A ENST00000256389.3 - 2 970 c.726C>T c.(724-726)ttC>ttT p.F242F RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 192 Peptidase M12B. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GCTTCAGAGTGAAATTATATG 0.398000 14 12 0 0 0.00185496 0 0 RGS12 6002 broad.mit.edu 37 4 3318359 3318359 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr4:3318359G>A ENST00000336727.3 + 2 1366 c.462G>A c.(460-462)ccG>ccA p.P154P RGS12_ENST00000382788.3_Silent_p.P154P|RGS12_ENST00000543385.1_Silent_p.P154P|RGS12_ENST00000344733.5_Silent_p.P154P NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 154 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTGAAAACCCGAGCCTTTGTG 0.428000 8 32 0 0 0.000442599 0 0 OR10J5 127385 broad.mit.edu 37 1 159505705 159505705 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:159505705G>A ENST00000334857.2 - 1 137 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) AGACAGTTAGGAAAACCACAA 0.378000 18 41 0 0 0.00152264 0 0 DNAH5 1767 broad.mit.edu 37 5 13780959 13780959 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:13780959G>A ENST00000265104.4 - 53 9034 c.8930C>T c.(8929-8931)tCc>tTc p.S2977F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2977 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GATCTGGAAGGAAACGTAGCC 0.488000 Kartagener syndrome 9 17 0 0 0.000442599 0 0 BDKRB1 623 broad.mit.edu 37 14 96730324 96730324 + Missense_Mutation SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:96730324A>G ENST00000216629.6 + 3 911 c.305A>G c.(304-306)aAc>aGc p.N102S RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.N102S NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 102 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) AACCAGTTTAACTGGCCTTTC 0.552000 30 24 0 0 0.00209593 0 0 CWF19L2 143884 broad.mit.edu 37 11 107260890 107260890 + Missense_Mutation SNP A A C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:107260890A>C ENST00000282251.5 - 12 1809 c.1782T>G c.(1780-1782)gaT>gaG p.D594E CWF19L2_ENST00000433523.1_Missense_Mutation_p.D594E NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 594 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TTAGATTATCATCATCATGAA 0.313000 17 34 0 0 0.00074312 0 0 LRP2 4036 broad.mit.edu 37 2 170032974 170032974 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:170032974G>A ENST00000263816.3 - 54 10803 c.10518C>T c.(10516-10518)acC>acT p.T3506T NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3506 EGF-like 13. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GCATGCAGTAGGTGCTGCCAC 0.552000 23 29 0 0 0.00229938 0 0 GJB6 10804 broad.mit.edu 37 13 20796916 20796916 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr13:20796916G>A ENST00000356192.6 - 5 1324 c.704C>T c.(703-705)gCc>gTc p.A235V GJB6_ENST00000400066.3_Missense_Mutation_p.A235V|GJB6_ENST00000400065.3_Missense_Mutation_p.A235V|GJB6_ENST00000241124.6_Missense_Mutation_p.A235V NM_001110219.2 NP_001103689.1 O95452 CXB6_HUMAN gap junction protein, beta 6, 30kDa 235 cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 9 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) CTCCTTTAGGGCATGATTGGG 0.418000 36 59 0 0 0.000692331 0 0 DYNC1LI1 51143 broad.mit.edu 37 3 32587396 32587396 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:32587396C>T ENST00000273130.4 - 3 385 c.282G>A c.(280-282)aaG>aaA p.K94K DYNC1LI1_ENST00000432458.2_Intron NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 94 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 CTCTTCCTTTCTTATACTCCT 0.308000 12 37 0 0 0.000978159 0 0 ALDH3B1 221 broad.mit.edu 37 11 67790121 67790121 + Missense_Mutation SNP C C G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:67790121C>G ENST00000539229.1 + 10 1118 c.1002C>G c.(1000-1002)ttC>ttG p.F334L ALDH3B1_ENST00000342456.6_Missense_Mutation_p.F298L|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.F334L|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron NM_001161473.1 NP_001154945.1 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3 family, member B1 336 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase NADH(DB00157) AGGAGATCTTCGGGCCCATCC 0.632000 41 31 0 0 0.000781405 0 0 CHST11 50515 broad.mit.edu 37 12 105150791 105150791 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:105150791G>A ENST00000303694.5 + 3 708 c.269G>A c.(268-270)cGa>cAa p.R90Q CHST11_ENST00000549260.1_Missense_Mutation_p.R85Q NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 90 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 GACACGTGCCGAGCCAACAGC 0.582000 21 12 0 0 0.00229938 0 0 MYH7B 57644 broad.mit.edu 37 20 33583241 33583241 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr20:33583241G>A ENST00000262873.7 + 26 3021 c.2929G>A c.(2929-2931)Gat>Aat p.D977N NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 935 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GCGGCTGGAGGATGAGGAGGA 0.617000 6 7 0 0 0.00116845 0 0 PTEN 5728 broad.mit.edu 37 10 89692839 89692839 + Missense_Mutation SNP T T C TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr10:89692839T>C ENST00000371953.3 + 5 1680 c.323T>C c.(322-324)cTt>cCt p.L108P NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 108 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L108R(3)|p.Y27fs*1(2)|p.L108_D109del(2)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGTGAAGATCTTGACCAATGG 0.373000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 56 6 0 0 0.000781405 0 0 VWF 7450 broad.mit.edu 37 12 6173510 6173510 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:6173510G>A ENST00000261405.5 - 12 1588 c.1334C>T c.(1333-1335)aCc>aTc p.T445I NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 445 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CAGCCGGACGGTGACGGAGCG 0.632000 12 11 0 0 0.00244969 0 0 FAM129B 64855 broad.mit.edu 37 9 130269197 130269197 + Missense_Mutation SNP A A T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:130269197A>T ENST00000373312.3 - 14 2381 c.2168T>A c.(2167-2169)gTg>gAg p.V723E FAM129B_ENST00000373314.3_Missense_Mutation_p.V710E NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 723 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 GGGGCTGGACACCTGCTCTCC 0.672000 31 50 0 0 0.00283554 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102452896 102452896 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr14:102452896C>T ENST00000360184.4 + 8 2498 c.2334C>T c.(2332-2334)gcC>gcT p.A778A NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 778 Interaction with DYNC1LI2 (By similarity).|Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ACCCGTTTGCCATCTCACTGA 0.517000 48 35 0 0 0.000781405 0 0 TMEM9 252839 broad.mit.edu 37 1 201113056 201113056 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:201113056G>A ENST00000367330.1 - 4 807 c.291C>T c.(289-291)tcC>tcT p.S97S TMEM9_ENST00000367333.1_Silent_p.S100S|TMEM9_ENST00000367334.5_Silent_p.S97S|TMEM9_ENST00000472411.1_5'UTR|TMEM9_ENST00000367332.1_Silent_p.S100S|TMEM9_ENST00000367329.1_Silent_p.S97S Q9P0T7 TMEM9_HUMAN transmembrane protein 9 97 transport integral to membrane|late endosome membrane|lysosomal membrane liver(1)|lung(1)|stomach(1) 3 Breast(1374;0.000301) CACCCACCACGGACAGGTAGA 0.542000 5 37 0 0 0.00116845 0 0 GRTP1 79774 broad.mit.edu 37 13 113999256 113999256 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr13:113999256C>T ENST00000375430.4 - 5 530 c.484G>A c.(484-486)Gga>Aga p.G162R GRTP1_ENST00000326039.3_Missense_Mutation_p.G84R|GRTP1_ENST00000375431.4_Missense_Mutation_p.G162R Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 162 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) ATCAGATATCCTGCTATAAAA 0.338000 40 32 0 0 0.00148497 0 0 RNF19A 25897 broad.mit.edu 37 8 101300197 101300197 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:101300197G>A ENST00000519449.1 - 3 522 c.206C>T c.(205-207)tCc>tTc p.S69F RNF19A_ENST00000341084.2_Missense_Mutation_p.S69F NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 69 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CCGAAACAGGGAGCCTATTGA 0.418000 60 84 0 0 0.000781405 0 0 MOCOS 55034 broad.mit.edu 37 18 33795660 33795660 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr18:33795660G>A ENST00000261326.5 + 8 1538 c.1517G>A c.(1516-1518)gGg>gAg p.G506E NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 506 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) GCTGACACCGGGGAGACTGGA 0.592000 7 12 0 0 0.00198382 0 0 COL6A6 131873 broad.mit.edu 37 3 130318624 130318624 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:130318624C>T ENST00000358511.6 + 19 4654 c.4623C>T c.(4621-4623)ccC>ccT p.P1541P COL6A6_ENST00000453409.2_Silent_p.P1541P NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1541 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGCCAGGCCCCCCCGGGACAC 0.488000 9 22 0 0 0.000978159 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035104 110035104 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:110035104C>T ENST00000453089.2 + 5 2082 c.1201C>T c.(1201-1203)Cat>Tat p.H401Y ZC3H12C_ENST00000278590.3_Missense_Mutation_p.H432Y|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.H433Y Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 432 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) CAAATATTACCATCCCGAAAG 0.458000 7 18 0 0 0.000157383 0 0 HSPG2 3339 broad.mit.edu 37 1 22174253 22174253 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:22174253C>T ENST00000374695.3 - 61 8033 c.7954G>A c.(7954-7956)Gtg>Atg p.V2652M HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2652 Ig-like C2-type 12. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding p.V2652M(2) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTGGCGACCACGCAGTTCAGA 0.647000 6 10 0 0 0.00116845 0 0 SLC36A4 120103 broad.mit.edu 37 11 92916041 92916041 + Missense_Mutation SNP A A G TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:92916041A>G ENST00000326402.4 - 4 420 c.290T>C c.(289-291)gTg>gCg p.V97A SLC36A4_ENST00000529184.1_5'UTR NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 97 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCCTATAAACACAAGGCTGAT 0.308000 175 214 0 0 0.000781405 0 0 DNAH3 55567 broad.mit.edu 37 16 21098222 21098222 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr16:21098222G>A ENST00000261383.3 - 19 2824 c.2825C>T c.(2824-2826)cCc>cTc p.P942L DNAH3_ENST00000415178.1_Missense_Mutation_p.P942L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 942 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACTGAGGATGGGAATGTACTG 0.512000 66 156 0 0 0.000781405 0 0 L1TD1 54596 broad.mit.edu 37 1 62672641 62672641 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr1:62672641G>A ENST00000498273.1 + 3 636 c.341G>A c.(340-342)gGg>gAg p.G114E NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 114 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 caaaaaacagggatggtaggg 0.333000 80 76 0 0 0.000781405 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790544 133790544 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr11:133790544G>A ENST00000321016.8 - 18 3306 c.3076C>T c.(3076-3078)Ccc>Tcc p.P1026S IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1026S Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1026 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TGAGTCAAGGGCAGCGTGCTG 0.667000 33 53 0 0 0.00170553 0 0 TTN 7273 broad.mit.edu 37 2 179611971 179611971 + Silent SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:179611971G>A ENST00000360870.5 - 46 15378 c.15156C>T c.(15154-15156)tcC>tcT p.S5052S TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1159 Ig-like 31. 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) CTGGGGGTGTGGAGTATCTTT 0.483000 21 32 0 0 0.00152264 0 0 ZMYM2 7750 broad.mit.edu 37 13 20641482 20641482 + Missense_Mutation SNP G G T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr13:20641482G>T ENST00000382869.3 + 21 3656 c.3405G>T c.(3403-3405)gaG>gaT p.E1135D ZMYM2_ENST00000382871.2_Missense_Mutation_p.E1135D|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382874.2_Missense_Mutation_p.E1135D|ZMYM2_ENST00000382870.2_Missense_Mutation_p.E515D NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 1135 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CAAATGGAGAGAATTATGCAC 0.388000 7 12 8.12818e-05 0.000346458 0.00198382 1 0 OR1J2 26740 broad.mit.edu 37 9 125273649 125273649 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:125273649C>T ENST00000335302.5 + 1 569 c.569C>T c.(568-570)tCa>tTa p.S190L NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CTGTCCTGCTCAGATATCTTC 0.532000 44 37 0 0 0.000680045 0 0 TMEM119 338773 broad.mit.edu 37 12 108985408 108985408 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:108985408C>T ENST00000392806.3 - 2 920 c.752G>A c.(751-753)gGg>gAg p.G251E NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 251 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 TTCCAGCTCCCCTTGGCCCTC 0.652000 46 88 0 0 0.000781405 0 0 TG 7038 broad.mit.edu 37 8 134144060 134144060 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr8:134144060G>A ENST00000220616.4 + 46 7907 c.7867G>A c.(7867-7869)Gag>Aag p.E2623K TG_ENST00000377869.1_Missense_Mutation_p.E2566K|TG_ENST00000519543.1_Missense_Mutation_p.E756K|TG_ENST00000542445.1_Missense_Mutation_p.E993K NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2623 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCTCAGCCTGGAGCTGCTGGC 0.458000 39 57 0 0 0.00170553 0 0 TACC2 10579 broad.mit.edu 37 10 123997041 123997041 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr10:123997041C>T ENST00000369005.1 + 17 8599 c.8259C>T c.(8257-8259)atC>atT p.I2753I TACC2_ENST00000368999.1_Silent_p.I843I|TACC2_ENST00000358010.1_Silent_p.I899I|TACC2_ENST00000453444.2_Silent_p.I2680I|TACC2_ENST00000360561.3_Silent_p.I801I|TACC2_ENST00000369000.1_Silent_p.I376I|TACC2_ENST00000369004.3_Silent_p.I813I|TACC2_ENST00000513429.1_Silent_p.I899I|TACC2_ENST00000515603.1_Silent_p.I2631I|TACC2_ENST00000515273.1_Silent_p.I2680I|TACC2_ENST00000334433.3_Silent_p.I2753I|TACC2_ENST00000369001.1_Silent_p.I380I|TACC2_ENST00000260733.3_Silent_p.I831I NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2753 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCCTCCAGATCGCCAGAGCAG 0.547000 19 13 0 0 0.00229938 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135884211 135884211 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr2:135884211C>T ENST00000264158.8 + 11 1001 c.958C>T c.(958-960)Cct>Tct p.P320S RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P320S|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P276S|RAB3GAP1_ENST00000487003.1_3'UTR NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 320 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) AGCTGAGAATCCTCAGTGTTT 0.358000 84 97 0 0 0.000781405 0 0 EMC3-AS1 442075 broad.mit.edu 37 3 10035779 10035783 + RNA DEL AGTCT AGTCT - rs35714562 TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:10035779_10035783delAGTCT ENST00000326237.3 + 0 354 GGGGAAGAGAAGTCTGATCTGACAT 0.380 8 42 --- --- --- --- UBA5 79876 broad.mit.edu 37 3 132379489 132379489 + Frame_Shift_Del DEL C C - TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr3:132379489delC ENST00000356232.4 + 1 1180 c.108delC c.(106-108)ggfs p.G36fs UBA5_ENST00000473651.1_Frame_Shift_Del_p.G36fs|ACAD11_ENST00000264990.6_5'UTR|UBA5_ENST00000493720.2_Frame_Shift_Del_p.G36fs|UBA5_ENST00000494238.2_5'UTR|UBA5_ENST00000264991.4_Intron|UBA5_ENST00000480955.1_3'UTR NM_024818.3 NP_079094.1 Q9GZZ9 UBA5_HUMAN ubiquitin-like modifier activating enzyme 5 36 protein ufmylation aggresome|cytoplasm|nucleus ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 GAGGGGGCGGCCGGGTCCGCA 0.682 2 4 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216399 149216400 + In_Frame_Ins INS - - CAG TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr5:149216399_149216400insCAG ENST00000309241.5 + 8 2413_2414 c.2381_2382insCAG c.(2380-2382)gag>gCAGag p.793_794insA PPARGC1B_ENST00000403750.1_In_Frame_Ins_p.729_730insA|PPARGC1B_ENST00000394320.3_In_Frame_Ins_p.793_794insA|PPARGC1B_ENST00000360453.4_In_Frame_Ins_p.754_755insA NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 793 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GTCTTTGAAGACAGCAGCAGCA 0.599 53 47 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 4 3 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46285865 46285891 + Splice_Site DEL GAAGTCTTCTACCAAGTAAGGAAAATG GAAGTCTTCTACCAAGTAAGGAAAATG - rs150531382 TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr12:46285865_46285891delGAAGTCTTCTACCAAGTAAGGAAAATG ENST00000334344.6 + 18 5305_5319 c.5147_splice c.e18+1 p.Q1712_splice ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Splice_Site_p.Q1563_splice|ARID2_ENST00000444670.1_Splice_Site_p.Q1322_splice|ARID2_ENST00000457135.1_Splice_Site_p.Q320_splice NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1712 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CAGGAAGTCAGAAGTCTTCTACCAAGTAAGGAAAATGAGTTTACTTC 0.396 """N, S, F""" hepatocellular carcinoma 4 6 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182564 59182565 + Frame_Shift_Del DEL CT CT - TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:59182564_59182565delCT ENST00000380516.2 - 15 2081_2082 c.1994_1995delAG c.(1993-1995)gfs p.E665fs SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs|AC025918.2_ENST00000452467.1_RNA NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 665 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTTCTAGGCGCTCTCTCTCTCT 0.475 7 149 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93444495 93444497 + In_Frame_Del DEL GAG GAG - TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr15:93444495_93444497delGAG ENST00000394196.4 + 2 1096_1098 c.28_30delGAG c.(28-30)del p.E11del CHD2_ENST00000420239.2_In_Frame_Del_p.E11del|CHD2_ENST00000557381.1_In_Frame_Del_p.E11del NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 11 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CAAAAGCCAAGAGGAGGACAGTT 0.399 11 10 --- --- --- --- FBXW10 10517 broad.mit.edu 37 17 18653309 18653310 + Frame_Shift_Ins INS - - T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:18653309_18653310insT ENST00000308799.4 + 3 1164_1165 c.945_946insT c.(943-948)atttttfs p.IF315fs FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Intron|FBXW10_ENST00000395667.1_Intron Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 293 F-box. NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 CTGGGTCCATCTTTTTTTTTCC 0.535 9 148 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74041436 74041436 + Frame_Shift_Del DEL A A - TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr17:74041436delA ENST00000307877.2 - 12 1492 c.1331delT c.(1330-1332)tafs p.L444fs SRP68_ENST00000602720.1_Frame_Shift_Del_p.L105fs|SRP68_ENST00000539137.1_Frame_Shift_Del_p.L406fs|SRP68_ENST00000355113.5_Frame_Shift_Del_p.L343fs|SRP68_ENST00000542536.2_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 444 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 GTCTTCCTCTAAACCAGGAAG 0.448 66 101 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 8 255 --- --- --- --- GLTSCR1 29998 broad.mit.edu 37 19 48185390 48185390 + Frame_Shift_Del DEL C C - TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr19:48185390delC ENST00000396720.3 + 7 2458 c.2264delC c.(2263-2265)tcfs p.S755fs CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 755 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) AGCCAGGCTTCCCCGGCTCCG 0.741 2 4 --- --- --- --- UMODL1 89766 broad.mit.edu 37 21 43531807 43531808 + Frame_Shift_Ins INS - - C rs220130 by1000genomes TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ea666b7-2b6e-4df8-9a9d-b8265b9749b4 de373850-b2ca-457e-a345-c7634a1dd4fa g.chr21:43531807_43531808insC ENST00000400427.1 + 11 2655_2656 c.2259_2260insC c.(2257-2262)aaccccfs p.NP753fs UMODL1_ENST00000408989.2_Frame_Shift_Ins_p.NP825fs|UMODL1_ENST00000400424.1_Frame_Shift_Ins_p.NP625fs|UMODL1_ENST00000408910.2_Frame_Shift_Ins_p.NP697fs NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 741 Fibronectin type-III 2. 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 CAGCTCTGAAGACCCCCGCCTG 0.589 7 11 --- --- --- ---