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 TUBB1 81027 broad.mit.edu 37 20 57599431 57599431 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr20:57599431T>C ENST00000217133.1 + 4 1218 c.949T>C c.(949-951)Ttc>Ctc p.F317L NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 317 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) GGCCTGCATTTTCCGGGGCAA 0.597000 5 54 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107707040 107707040 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:107707040G>C ENST00000388781.3 - 20 2535 c.2452C>G c.(2452-2454)Cac>Gac p.H818D LAMB4_ENST00000205386.4_Missense_Mutation_p.H818D|LAMB4_ENST00000388780.3_Missense_Mutation_p.H818D NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 818 Laminin EGF-like 7. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GGATGGCAGTGACATGCTGGA 0.527000 3 16 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75055746 75055746 + Nonsense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:75055746G>T ENST00000326665.5 - 12 1963 c.1745C>A c.(1744-1746)tCa>tAa p.S582* RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S385* NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 582 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GGATGAGGTTGATGAAGCAGT 0.383000 9 11 1.12685e-05 1.1743e-05 1 1 0 PCDH18 54510 broad.mit.edu 37 4 138451204 138451204 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:138451204G>A ENST00000344876.4 - 1 2425 c.2039C>T c.(2038-2040)gCa>gTa p.A680V PCDH18_ENST00000412923.2_Missense_Mutation_p.A680V|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460V NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 680 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CACCGACTCTGCATATTCAAA 0.428000 31 104 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148048585 148048585 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chrX:148048585G>T ENST00000370460.2 + 14 3658 c.3179G>T c.(3178-3180)aGa>aTa p.R1060I AFF2_ENST00000286437.5_Missense_Mutation_p.R701I|AFF2_ENST00000342251.3_Missense_Mutation_p.R1027I|AFF2_ENST00000370457.5_Missense_Mutation_p.R1025I NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1060 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AATGTCCGGAGACCCAAGCTC 0.522000 35 228 3.62531e-18 4.18956e-18 1 1 0 GDAP1L1 78997 broad.mit.edu 37 20 42891917 42891917 + Missense_Mutation SNP G G A rs111998272 byFrequency TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr20:42891917G>A ENST00000342560.5 + 4 683 c.595G>A c.(595-597)Gag>Aag p.E199K GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E7K NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 199 GST C-terminal. endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGACCATGAAGAGGAGCCCCA 0.552000 13 257 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22389445 22389445 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:22389445G>C ENST00000334304.5 - 19 4118 c.3849C>G c.(3847-3849)ctC>ctG p.L1283L GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1283 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TGGCCAAGTTGAGGCCATAAG 0.433000 7 45 0 0 1 0 0 TMEM180 79847 broad.mit.edu 37 10 104233349 104233349 + Silent SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr10:104233349T>C ENST00000238936.4 + 8 1185 c.948T>C c.(946-948)caT>caC p.H316H TMEM180_ENST00000366277.2_Silent_p.H45H NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 316 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TCGCTCCCCATCTCAACAACC 0.632000 38 148 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255478 16255478 + Nonsense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:16255478C>T ENST00000375759.3 + 11 2947 c.2743C>T c.(2743-2745)Cag>Tag p.Q915* NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 915 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGCCCTGGACCAGAAACTTCA 0.443000 16 229 0 0 1 0 0 EGFL8 80864 broad.mit.edu 37 6 32134035 32134035 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:32134035C>T ENST00000395512.1 + 2 198 c.93C>T c.(91-93)ctC>ctT p.L31L PPT2-EGFL8_ENST00000453656.2_3'UTR|EGFL8_ENST00000333845.6_Silent_p.L31L|PPT2-EGFL8_ENST00000422437.1_Intron Q99944 EGFL8_HUMAN EGF-like-domain, multiple 8 31 extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 GTGGATCCCTCAGAGAGAGGT 0.592000 7 38 0 0 1 0 0 KPNA4 3840 broad.mit.edu 37 3 160245808 160245808 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr3:160245808C>G ENST00000334256.4 - 8 794 c.489G>C c.(487-489)ctG>ctC p.L163L NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 163 NLS binding site (major) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) GGAGAAGCCTCAGGAAAAGTG 0.358000 10 28 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838251 100838251 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:100838251T>C ENST00000369208.3 - 12 3069 c.2287A>G c.(2287-2289)Acc>Gcc p.T763A SIM1_ENST00000262901.4_Missense_Mutation_p.T763A P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 763 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CTTCCGTTGGTTATTATAACA 0.393000 17 56 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22855171 22855171 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr15:22855171G>T ENST00000283645.4 + 13 1762 c.1632G>T c.(1630-1632)agG>agT p.R544S TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R544S NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 544 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CCTCCAGCAGGCAGCACACCA 0.502000 19 48 1.33834e-09 1.46674e-09 1 1 0 PYGO1 26108 broad.mit.edu 37 15 55838669 55838669 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr15:55838669A>G ENST00000302000.6 - 3 906 c.812T>C c.(811-813)aTt>aCt p.I271T PYGO1_ENST00000563719.1_Missense_Mutation_p.I271T NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 271 Asn-rich. Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) TTTTAATTCAATATTACTCTG 0.383000 24 80 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1053787 1053787 + Splice_Site SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr19:1053787A>T ENST00000263094.6 + 25 3655 c.3423_splice c.e25-1 p.I1142_splice ABCA7_ENST00000433129.1_Splice_Site_p.I1142_splice|ABCA7_ENST00000435683.2_Splice_Site_p.I1004_splice NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1142 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCTCCCCAGATCTTCCTGAA 0.642000 25 57 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138433375 138433375 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr3:138433375T>C ENST00000477593.1 - 8 1310 c.1237A>G c.(1237-1239)Acg>Gcg p.T413A PIK3CB_ENST00000289153.2_Missense_Mutation_p.T413A P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 413 C2 PI3K-type. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GATTTCTTCGTTTTTACTTTA 0.318000 4 18 0 0 1 0 0 CXorf66 347487 broad.mit.edu 37 X 139038258 139038258 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chrX:139038258G>T ENST00000370540.1 - 3 906 c.883C>A c.(883-885)Caa>Aaa p.Q295K NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 295 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 TGTAGGTTTTGAGTGTTTTTC 0.388000 33 59 2.80507e-11 3.1438e-11 1 1 0 VPS13D 55187 broad.mit.edu 37 1 12316413 12316413 + Missense_Mutation SNP G G C rs148067811 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:12316413G>C ENST00000358136.3 + 8 823 c.693G>C c.(691-693)gaG>gaC p.E231D VPS13D_ENST00000356315.4_Missense_Mutation_p.E231D NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 231 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGAGCATGGAGAGTCGCAGCC 0.537000 17 156 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39885673 39885673 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr15:39885673G>C ENST00000260356.5 + 19 3236 c.3071G>C c.(3070-3072)gGa>gCa p.G1024A NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1024 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GACTATGCTGGATTTGTCTTT 0.517000 19 171 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73850106 73850106 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr8:73850106G>A ENST00000523207.1 + 3 3104 c.2516G>A c.(2515-2517)aGt>aAt p.S839N NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 839 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GATAAGCCTAGTGATGGGAGA 0.522000 39 58 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186980391 186980391 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr3:186980391G>A ENST00000337774.5 - 3 744 c.355C>T c.(355-357)Cgg>Tgg p.R119W MASP1_ENST00000392472.2_Missense_Mutation_p.R6W|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.R119W|MASP1_ENST00000392470.2_Missense_Mutation_p.R93W|MASP1_ENST00000296280.6_Missense_Mutation_p.R119W NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 119 CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) AAATCTGACCGGAAAGTGATG 0.557000 15 63 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76422537 76422537 + Nonsense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr17:76422537C>A ENST00000600087.1 + 1 129 c.129C>A c.(127-129)taC>taA p.Y43* DNAH17_ENST00000585328.1_Splice_Site|DNAH17_ENST00000389840.5_Splice_Site|DNAH17_ENST00000586052.1_Splice_Site ACGGCACTTACCCTGATGCGG 0.632000 15 7 1.05317e-09 1.15849e-09 1 1 0 BMP5 653 broad.mit.edu 37 6 55739531 55739531 + Missense_Mutation SNP T T G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:55739531T>G ENST00000370830.3 - 1 831 c.133A>C c.(133-135)Aac>Cac p.N45H BMP5_ENST00000446683.2_Missense_Mutation_p.N45H NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 45 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CTTTCGTGGTTCCGTAGTCTT 0.463000 24 68 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169938300 169938300 + Translation_Start_Site SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:169938300A>T ENST00000421653.1 + 0 293 DHRS9_ENST00000602501.1_Missense_Mutation_p.K70M|DHRS9_ENST00000436483.2_Missense_Mutation_p.K70M|DHRS9_ENST00000432060.2_Missense_Mutation_p.K130M|DHRS9_ENST00000428522.1_Missense_Mutation_p.K70M|DHRS9_ENST00000327239.4_Missense_Mutation_p.K70M|DHRS9_ENST00000412271.1_Missense_Mutation_p.K70M|DHRS9_ENST00000357546.2_Missense_Mutation_p.K70M Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 ACAGCTTTAAAGGCAGAAACC 0.483000 21 51 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1159315 1159315 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:1159315C>T ENST00000356191.2 + 16 1283 c.1283C>T c.(1282-1284)cCg>cTg p.P428L mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GTTCCATGCCCGGGTACCTGC 0.637000 4 42 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69279634 69279634 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr12:69279634G>C ENST00000551568.1 - 3 256 c.196C>G c.(196-198)Cca>Gca p.P66A CPM_ENST00000546373.1_Missense_Mutation_p.P66A|CPM_ENST00000338356.3_Missense_Mutation_p.P66A NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 66 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TGTTCCTTTGGAAACCGCCCC 0.408000 11 44 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117815131 117815131 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chrX:117815131G>C ENST00000276204.6 + 50 5856 c.5782G>C c.(5782-5784)Gag>Cag p.E1928Q DOCK11_ENST00000276202.7_Missense_Mutation_p.E1928Q Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1928 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TAAAACTGCAGAGCTGCAAAA 0.403000 18 37 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160067536 160067536 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:160067536C>T ENST00000327245.5 - 10 1778 c.932G>A c.(931-933)cGg>cAg p.R311Q NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 311 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATTCATGCGCCGCTCAATCTT 0.478000 26 98 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825504 4825504 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:4825504G>T ENST00000380382.1 - 1 343 c.344C>A c.(343-345)gCc>gAc p.A115D MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36D|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCATACGTGGCACAGAACGG 0.512000 6 20 0.00307968 0.00315402 1 1 0 TRAPPC9 83696 broad.mit.edu 37 8 141263009 141263009 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr8:141263009G>A ENST00000389328.4 - 16 2606 c.2592C>T c.(2590-2592)ttC>ttT p.F864F TRAPPC9_ENST00000389327.3_Silent_p.F757F|TRAPPC9_ENST00000438773.2_Silent_p.F766F NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 766 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TCCAGCTCAAGAAGTCGCCAT 0.448000 8 51 0 0 1 0 0 C16orf72 29035 broad.mit.edu 37 16 9186809 9186809 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:9186809C>G ENST00000327827.7 + 2 655 c.258C>G c.(256-258)ctC>ctG p.L86L NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 86 endometrium(4)|large_intestine(2)|lung(2) 8 GACTTTCTCTCTGGGTCCCCT 0.463000 4 12 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123508372 123508372 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:123508372A>T ENST00000223026.4 + 3 683 c.45A>T c.(43-45)caA>caT p.Q15H HYAL4_ENST00000476325.1_Missense_Mutation_p.Q15H NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 15 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 GTGTTGTTCAACCAGTACATC 0.343000 10 37 0 0 1 0 0 DEF6 50619 broad.mit.edu 37 6 35280093 35280093 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:35280093G>A ENST00000316637.5 + 4 443 c.438G>A c.(436-438)ctG>ctA p.L146L DEF6_ENST00000542066.1_Intron NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 146 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 AATACCTGCTGAAAAAGGTAC 0.612000 20 48 0 0 1 0 0 STK17B 9262 broad.mit.edu 37 2 197004523 197004523 + Splice_Site SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:197004523C>G ENST00000263955.4 - 7 943 c.656_splice c.e7-1 p.W219_splice STK17B_ENST00000409228.1_Splice_Site_p.W219_splice NM_004226.3 NP_004217.1 O94768 ST17B_HUMAN serine/threonine kinase 17b 219 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10) 15 OV - Ovarian serous cystadenocarcinoma(117;0.141) TACCAATATTCCTGAAAAACA 0.313000 4 27 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87033303 87033303 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:87033303C>T ENST00000370563.3 + 7 1193 c.1151C>T c.(1150-1152)tCc>tTc p.S384F CLCA4_ENST00000263723.5_Missense_Mutation_p.S97F NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 384 VWFA. apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GGAGGAACTTCCATCTGCTCT 0.353000 9 21 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131916134 131916134 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr8:131916134C>T ENST00000286355.5 - 7 3887 c.1795G>A c.(1795-1797)Gaa>Aaa p.E599K ADCY8_ENST00000377928.3_Missense_Mutation_p.E599K NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 599 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) ACGATATCTTCAGGCAAGGAC 0.478000 HNSCC(32;0.087) 10 84 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48753913 48753913 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr17:48753913C>A ENST00000285238.8 + 23 3422 c.3342C>A c.(3340-3342)gtC>gtA p.V1114V NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1114 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCACTGTGGTCATCCTGCCCC 0.592000 41 82 4.32679e-17 4.98084e-17 1 1 0 NIPAL1 152519 broad.mit.edu 37 4 48037979 48037979 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:48037979G>C ENST00000295461.5 + 6 1089 c.1023G>C c.(1021-1023)ctG>ctC p.L341L NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 341 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 TTGGGACCCTGAGTGGATTCT 0.398000 13 38 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86312712 86312712 + Silent SNP G G A rs145878071 by1000genomes TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr15:86312712G>A ENST00000337975.5 - 2 604 c.330C>T c.(328-330)atC>atT p.I110I KLHL25_ENST00000536947.1_Silent_p.I110I|KLHL25_ENST00000559131.1_Intron NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 110 BTB. cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 CGTTGATGGCGATGCGTGAGG 0.607000 23 51 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040883 147040883 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:147040883C>A ENST00000265272.5 - 3 722 c.255G>T c.(253-255)ctG>ctT p.L85L JAKMIP2_ENST00000333010.6_Silent_p.L43L|JAKMIP2_ENST00000507386.1_Silent_p.L85L NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 85 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACAGCCTGCAGCTCCTTCA 0.537000 42 143 6.2361e-21 7.23486e-21 1 1 0 ADRBK1 156 broad.mit.edu 37 11 67051382 67051382 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:67051382A>T ENST00000308595.5 + 17 1743 c.1453A>T c.(1453-1455)Att>Ttt p.I485F ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 485 AGC-kinase C-terminal. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) CGCCTTCGACATTGGCTCCTT 0.622000 9 10 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113860273 113860273 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:113860273C>A ENST00000504030.2 + 9 1670 c.1225C>A c.(1225-1227)Cgg>Agg p.R409R HTR3A_ENST00000355556.2_Silent_p.R447R|HTR3A_ENST00000506841.2_Silent_p.R441R|HTR3A_ENST00000299961.5_Silent_p.R394R|HTR3A_ENST00000375498.2_Silent_p.R415R|HTR3A_ENST00000535865.1_Silent_p.R153R P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 409 R -> Q. digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CCCACCACCTCGGGAGGCCTC 0.637000 87 61 2.96794e-49 3.48411e-49 1 1 0 AP4M1 9179 broad.mit.edu 37 7 99699579 99699579 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:99699579C>A ENST00000429084.1 + 2 293 c.135C>A c.(133-135)tcC>tcA p.S45S AP4M1_ENST00000421755.1_Silent_p.S45S|AP4M1_ENST00000359593.4_Silent_p.S45S|AP4M1_ENST00000478501.1_3'UTR O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 45 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGACGAGTCCCCGGTTGTCA 0.682000 12 47 4.36969e-10 4.84253e-10 1 1 0 EEF1A1 1915 broad.mit.edu 37 6 74228666 74228666 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:74228666G>C ENST00000316292.9 - 3 1601 c.610C>G c.(610-612)Cca>Gca p.P204A EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P204A|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P204A NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 204 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 TTAGCACTTGGCTCCAGCATG 0.428000 OREG0003891 type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 11 36 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56230395 56230395 + Silent SNP A A G rs145912919 byFrequency TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:56230395A>G ENST00000279791.1 - 1 482 c.483T>C c.(481-483)acT>acC p.T161T NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) ATAAGCCATAAGTCCATAGTG 0.428000 17 49 0 0 1 0 0 RAB33B 83452 broad.mit.edu 37 4 140393939 140393939 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:140393939A>G ENST00000305626.5 + 2 738 c.349A>G c.(349-351)Acc>Gcc p.T117A NM_031296.1 NP_112586.1 Q9H082 RB33B_HUMAN RAB33B, member RAS oncogene family 117 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_hematologic(180;0.162) GTATGATATGACCAACATGGC 0.408000 15 32 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716543 142716543 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chrX:142716543C>T ENST00000381779.4 - 2 2607 c.2382G>A c.(2380-2382)ctG>ctA p.L794L SLITRK4_ENST00000338017.4_Silent_p.L794L|SLITRK4_ENST00000356928.1_Silent_p.L794L NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 794 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TGCCACCTATCAGTGACTTCT 0.408000 12 77 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142513633 142513633 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:142513633C>G ENST00000378004.3 + 19 2155 c.1800C>G c.(1798-1800)ccC>ccG p.P600P ARHGAP26_ENST00000274498.4_Silent_p.P600P NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 600 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCGAGAGGCCCCTGACGCTCT 0.577000 26 93 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915214 119915214 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:119915214G>C ENST00000331113.4 + 1 1493 c.528G>C c.(526-528)gaG>gaC p.E176D NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 176 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGGCCTTCGAGAACCCCCACA 0.617000 16 38 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234944 21234944 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:21234944C>T ENST00000233242.1 - 26 4923 c.4796G>A c.(4795-4797)cGt>cAt p.R1599H NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1599 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.R1599H(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATATTCAGAACGCAGCAGTGC 0.413000 7 40 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222600 27222600 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:27222600T>A ENST00000230582.3 + 10 1294 c.1279T>A c.(1279-1281)Tcc>Acc p.S427T PRSS16_ENST00000421826.2_Missense_Mutation_p.S170T|PRSS16_ENST00000377456.2_Intron NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 427 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TCAGACGAACTCCTACTACGG 0.567000 24 88 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122387299 122387299 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chrX:122387299C>A ENST00000264357.5 + 3 706 c.414C>A c.(412-414)gtC>gtA p.V138V GRIA3_ENST00000542149.1_Silent_p.V138V|GRIA3_ENST00000541091.1_Silent_p.V122V|GRIA3_ENST00000371251.1_Silent_p.V138V|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371256.5_Silent_p.V138V NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 138 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) TGCAGTTTGTCATCCAGATGC 0.512000 21 116 0.000132079 0.000137159 1 1 0 TTF2 8458 broad.mit.edu 37 1 117619276 117619276 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:117619276G>C ENST00000369466.3 + 7 1448 c.1404G>C c.(1402-1404)aaG>aaC p.K468N NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 468 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CTAATGAGAAGAGTAACAGTC 0.507000 9 78 0 0 1 0 0 SMTN 6525 broad.mit.edu 37 22 31500330 31500330 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr22:31500330G>A ENST00000358743.1 + 21 2919 c.2701G>A c.(2701-2703)Gag>Aag p.E901K RP3-412A9.10_ENST00000504335.1_RNA|SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000347557.2_Missense_Mutation_p.E878K|SMTN_ENST00000333137.7_3'UTR NM_134270.2 NP_599032.2 P53814 SMTN_HUMAN smoothelin 878 CH. muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GCCCCTGGTGGAGGTGGACGA 0.627000 12 86 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97531481 97531481 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:97531481G>A ENST00000305476.5 - 5 474 c.342C>T c.(340-342)atC>atT p.I114I NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 114 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GCAGGAAGCGGATGAAGTTGA 0.612000 6 40 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64813997 64813997 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr12:64813997G>T ENST00000332707.5 + 7 1166 c.637G>T c.(637-639)Gtc>Ttc p.V213F NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 213 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TGGGGCTTATGTCTCTTGGAT 0.333000 12 39 7.03913e-09 7.63e-09 1 1 0 RIPK3 11035 broad.mit.edu 37 14 24806948 24806948 + Nonsense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr14:24806948C>A ENST00000216274.5 - 7 1071 c.853G>T c.(853-855)Gaa>Taa p.E285* NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 285 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) TGGAAGACTTCATCAGTTTTT 0.527000 4 18 0.184627 0.185251 1 1 0 TOPORS 10210 broad.mit.edu 37 9 32542610 32542610 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr9:32542610C>G ENST00000360538.2 - 3 2029 c.1913G>C c.(1912-1914)aGa>aCa p.R638T TOPORS_ENST00000379858.1_Missense_Mutation_p.R573T NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 638 Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TCTTCTCCCTCTAGGTCTGCT 0.423000 31 93 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27132839 27132839 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr12:27132839C>T ENST00000343028.4 - 9 1292 c.1067G>A c.(1066-1068)aGc>aAc p.S356N TM7SF3_ENST00000542667.1_5'UTR NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 356 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) TCCACCGACGCTTCCAGTGAC 0.502000 11 36 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34610823 34610823 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr15:34610823C>A ENST00000290209.5 - 1 157 c.57G>T c.(55-57)tcG>tcT p.S19S SLC12A6_ENST00000558589.1_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000354181.3_Intron|SLC12A6_ENST00000560611.1_Intron|SLC12A6_ENST00000558667.1_Intron|SLC12A6_ENST00000458406.2_Intron NM_005135.2 NP_005126.1 Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 72 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CTTGAGAGATCGAAGCCGCTG 0.428000 11 39 6.42651e-13 7.31293e-13 1 1 0 SPDYE3 441272 broad.mit.edu 37 7 99912207 99912207 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:99912207G>T ENST00000332397.6 + 6 1219 c.1035G>T c.(1033-1035)aaG>aaT p.K345N SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 345 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GCAAAAGGAAGAGGGAGTGTT 0.577000 14 28 3.51602e-12 3.97056e-12 1 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121612621 121612621 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:121612621C>A ENST00000393386.2 + 4 742 c.331C>A c.(331-333)Cgt>Agt p.R111S PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R111S NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 111 Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TAATGACTACCGTGTCAGCGG 0.333000 12 29 2.27111e-07 2.40043e-07 1 1 0 COL22A1 169044 broad.mit.edu 37 8 139601678 139601678 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr8:139601678G>C ENST00000303045.6 - 65 5145 c.4699C>G c.(4699-4701)Ccc>Gcc p.P1567A COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1547A NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1567 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGTTCCCCGGGTTGACCTGGC 0.577000 HNSCC(7;0.00092) 3 15 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44976017 44976017 + Silent SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr14:44976017A>T ENST00000340446.4 - 1 465 c.174T>A c.(172-174)acT>acA p.T58T NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 58 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TCTTTGTCCAAGTTTGCTGAA 0.423000 16 73 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17942116 17942116 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr19:17942116C>G ENST00000458235.1 - 21 2998 c.2899G>C c.(2899-2901)Gac>Cac p.D967H JAK3_ENST00000534444.1_Missense_Mutation_p.D967H|JAK3_ENST00000527670.1_Missense_Mutation_p.D967H NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 967 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 AGGCCGAAGTCAGCGATCTTG 0.657000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 26 130 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39798666 39798666 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:39798666C>T ENST00000564288.1 + 37 7183 c.6406C>T c.(6406-6408)Cct>Tct p.P2136S MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2173S|MACF1_ENST00000289893.4_Missense_Mutation_p.P576S|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P2141S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2141 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) GACCATACCTCCTGCTGAGGC 0.463000 21 26 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409906 79409906 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr17:79409906C>T ENST00000307745.7 + 9 1531 c.1531C>T c.(1531-1533)Ccg>Tcg p.P511S TCACCAGGACCCGCTGGGCGG 0.657000 6 32 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5932699 5932699 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr20:5932699G>A ENST00000378896.3 + 2 415 c.38G>A c.(37-39)gGa>gAa p.G13E MCM8_ENST00000378886.2_Missense_Mutation_p.G13E|MCM8_ENST00000265187.4_Missense_Mutation_p.G13E|MCM8_ENST00000378883.1_Missense_Mutation_p.G13E NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 13 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 TTTGGACGAGGAAGATTTCAA 0.403000 11 39 0 0 1 0 0 FASTKD3 79072 broad.mit.edu 37 5 7861342 7861342 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:7861342A>G ENST00000264669.5 - 6 1940 c.1804T>C c.(1804-1806)Tgc>Cgc p.C602R MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 602 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTATTGGAGCAAAACCTTTTT 0.299000 12 48 0 0 1 0 0 ESRP2 80004 broad.mit.edu 37 16 68269783 68269783 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:68269783C>G ENST00000473183.2 - 1 704 c.166G>C c.(166-168)Gtt>Ctt p.V56L ESRP2_ENST00000565858.1_Missense_Mutation_p.V56L Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 56 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 ACTTGCCAAACTAGGAGGATT 0.682000 3 16 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115806327 115806327 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr9:115806327G>C ENST00000374227.3 - 4 598 c.571C>G c.(571-573)Cct>Gct p.P191A ZFP37_ENST00000555206.1_Missense_Mutation_p.P192A|ZFP37_ENST00000553380.1_Missense_Mutation_p.P206A Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 191 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GAGTGATCAGGTAAATCTAAA 0.313000 13 22 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116632226 116632226 + Missense_Mutation SNP G G C rs61758125 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr8:116632226G>C ENST00000395715.3 - 3 676 c.99C>G c.(97-99)atC>atG p.I33M TRPS1_ENST00000519076.1_Missense_Mutation_p.I20M|TRPS1_ENST00000220888.5_Missense_Mutation_p.I20M|TRPS1_ENST00000520276.1_Missense_Mutation_p.I24M|TRPS1_ENST00000519674.1_Missense_Mutation_p.I20M NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 20 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 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) TAGGCTCCAGGATCTGGCCCT 0.448000 Langer-Giedion syndrome 26 58 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42557000 42557000 + Missense_Mutation SNP A A C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:42557000A>C ENST00000318522.5 + 23 2861 c.2599A>C c.(2599-2601)Aag>Cag p.K867Q EML4_ENST00000401738.3_Missense_Mutation_p.K878Q|EML4_ENST00000402711.2_Missense_Mutation_p.K809Q|EML4_ENST00000453191.2_Missense_Mutation_p.K131Q NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 867 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 ACTTGTGGAAAAGTTATCTTT 0.443000 T ALK NSCLC 32 77 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50271897 50271897 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr15:50271897C>G ENST00000284509.6 - 12 1092 c.951G>C c.(949-951)aaG>aaC p.K317N ATP8B4_ENST00000559829.1_Missense_Mutation_p.K317N|ATP8B4_ENST00000558959.1_5'UTR NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 317 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACACAGAGCTCTTCTCTCCTT 0.368000 12 50 0 0 1 0 0 CES2 8824 broad.mit.edu 37 16 66973251 66973251 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:66973251C>G ENST00000317091.4 + 3 1589 c.605C>G c.(604-606)tCt>tGt p.S202C CES2_ENST00000417689.1_Missense_Mutation_p.S202C NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 138 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CATGAAGGCTCTAACCTGCCG 0.537000 22 67 0 0 1 0 0 COQ7 10229 broad.mit.edu 37 16 19087047 19087047 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:19087047G>A ENST00000321998.5 + 4 438 c.372G>A c.(370-372)gcG>gcA p.A124A COQ7_ENST00000544894.2_Silent_p.A86A|COQ7_ENST00000569127.1_Silent_p.A101A|COQ7_ENST00000568985.1_Silent_p.A124A NM_016138.4 NP_057222.2 Q99807 COQ7_HUMAN coenzyme Q7 homolog, ubiquinone (yeast) 124 2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1) 10 TCCCAGGGGCGGGGACCGCCT 0.557000 16 51 0 0 1 0 0 ASB16 92591 broad.mit.edu 37 17 42248181 42248181 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr17:42248181C>T ENST00000293414.1 + 1 108 c.24C>T c.(22-24)ttC>ttT p.F8F NM_080863.4 NP_543139.4 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box containing 16 8 intracellular signal transduction protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) CCTTCCCCTTCACCTCCTCCA 0.687000 29 41 0 0 1 0 0 VPS51 738 broad.mit.edu 37 11 64876853 64876853 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:64876853G>A ENST00000279281.3 + 6 1637 c.1545G>A c.(1543-1545)aaG>aaA p.K515K VPS51_ENST00000527646.1_3'UTR NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) CTGGGGAGAAGGGGGGTGCCA 0.622000 28 38 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37518252 37518252 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr9:37518252C>T ENST00000432825.2 - 9 2432 c.2384G>A c.(2383-2385)cGg>cAg p.R795Q FBXO10_ENST00000541829.1_Missense_Mutation_p.R320Q|RP11-613M10.8_ENST00000544475.1_5'UTR NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 795 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) ACCATTGCCCCGGAGCTCCAC 0.582000 10 25 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451205 138451205 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:138451205C>T ENST00000344876.4 - 1 2424 c.2038G>A c.(2038-2040)Gca>Aca p.A680T PCDH18_ENST00000412923.2_Missense_Mutation_p.A680T|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460T NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 680 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ACCGACTCTGCATATTCAAAG 0.423000 31 104 0 0 1 0 0 WARS2 10352 broad.mit.edu 37 1 119575787 119575787 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:119575787G>A ENST00000235521.4 - 6 856 c.830C>T c.(829-831)gCg>gTg p.A277V WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A183V NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 277 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) GGCATGCACCGCCACTATGTT 0.637000 13 58 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146276246 146276246 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:146276246C>T ENST00000367503.3 - 2 611 c.213G>A c.(211-213)aaG>aaA p.K71K SHPRH_ENST00000438092.2_Silent_p.K71K|SHPRH_ENST00000275233.7_Silent_p.K71K|SHPRH_ENST00000367505.2_Silent_p.K71K NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 71 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TTGAACACCTCTTCTTATCTC 0.388000 8 64 0 0 1 0 0 ALKBH8 91801 broad.mit.edu 37 11 107427549 107427549 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:107427549C>G ENST00000428149.2 - 3 461 c.310G>C c.(310-312)Gaa>Caa p.E104Q ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000429370.1_Missense_Mutation_p.E104Q|ALKBH8_ENST00000417449.2_Missense_Mutation_p.E107Q|ALKBH8_ENST00000389568.3_Missense_Mutation_p.E104Q NM_138775.2 NP_620130.2 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 (E. coli) 104 RRM. response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity p.E104*(2) breast(2)|large_intestine(2)|lung(5) 9 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) TCCACTACTTCTTTTCCATTG 0.353000 29 19 0 0 1 0 0 SCRT1 83482 broad.mit.edu 37 8 145557311 145557311 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr8:145557311C>T ENST00000332135.4 - 2 694 c.583G>A c.(583-585)Gag>Aag p.E195K NM_031309.4 NP_112599.1 Q9BWW7 SCRT1_HUMAN scratch family zinc finger 1 195 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|upper_aerodigestive_tract(1) 3 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TTGCCGCACTCGCCGCACGCG 0.786000 4 16 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564577 176564577 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:176564577C>G ENST00000367662.3 + 3 3001 c.1837C>G c.(1837-1839)Cgc>Ggc p.R613G PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613G NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 613 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGGTGACTGCCGCCTGCAGGG 0.587000 11 65 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25390488 25390488 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:25390488C>G ENST00000315368.3 + 7 641 c.499C>G c.(499-501)Ctc>Gtc p.L167V ANAPC4_ENST00000510092.1_Missense_Mutation_p.L167V NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 167 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) AATTATTAAGCTCTTGGGAGA 0.294000 6 23 0 0 1 0 0 ALG3 10195 broad.mit.edu 37 3 183963045 183963045 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr3:183963045G>A ENST00000455059.1 - 4 880 c.426C>T c.(424-426)ctC>ctT p.L142L EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.L126L|ALG3_ENST00000397676.3_Silent_p.L182L|ALG3_ENST00000445626.2_Silent_p.L134L Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 182 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TACTGAGGAAGAGCAGCACCA 0.552000 4 35 0 0 1 0 0 CENPK 64105 broad.mit.edu 37 5 64824348 64824348 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:64824348G>C ENST00000396679.1 - 9 742 c.528C>G c.(526-528)ctC>ctG p.L176L CENPK_ENST00000510693.1_Silent_p.L113L|CENPK_ENST00000508421.1_Silent_p.L146L|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Silent_p.L176L|CENPK_ENST00000514814.1_Silent_p.L176L NM_022145.4 NP_071428.2 Q9BS16 CENPK_HUMAN centromere protein K 176 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm breast(1)|endometrium(1)|large_intestine(3)|lung(5) 10 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00466) AGGTACTCAAGAGTTTCTCCT 0.269000 4 13 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107350640 107350640 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:107350640A>G ENST00000265715.3 + 19 2455 c.2231A>G c.(2230-2232)gAa>gGa p.E744G SLC26A4_ENST00000544569.1_Missense_Mutation_p.E331G|SLC26A4_ENST00000543100.1_Missense_Mutation_p.E313G|SLC26A4_ENST00000541474.1_Missense_Mutation_p.E305G NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 744 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TCCATTTTAGAAACGGTAAAT 0.343000 Pendred syndrome 5 22 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83129133 83129133 + Missense_Mutation SNP A A C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chrX:83129133A>C ENST00000329312.4 + 4 1454 c.1417A>C c.(1417-1419)Aaa>Caa p.K473Q NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 473 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity 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 GAAAGATGACAAAAAGAAGGA 0.358000 3 12 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30528404 30528404 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:30528404G>T ENST00000356798.6 + 26 3153 c.2973G>T c.(2971-2973)caG>caT p.Q991H ITGAL_ENST00000433423.2_Missense_Mutation_p.Q225H|ITGAL_ENST00000358164.5_Missense_Mutation_p.Q907H NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 991 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GGAGCGTGCAGATGGTGAGTG 0.632000 32 99 3.69857e-22 4.30774e-22 1 1 0 UBAC2 337867 broad.mit.edu 37 13 100020049 100020049 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr13:100020049G>C ENST00000376440.2 + 6 1214 c.711G>C c.(709-711)atG>atC p.M237I UBAC2_ENST00000403766.3_Missense_Mutation_p.M272I|UBAC2_ENST00000460562.1_3'UTR NM_177967.3 NP_808882.1 Q8NBM4 UBAC2_HUMAN UBA domain containing 2 272 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2) 10 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGGGAGGAATGATCAATTGGA 0.448000 5 20 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62374514 62374514 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:62374514G>C ENST00000394773.2 - 12 1727 c.1420C>G c.(1420-1422)Ctc>Gtc p.L474V EML3_ENST00000278845.4_Missense_Mutation_p.L475V|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.L446V|EML3_ENST00000529309.1_Missense_Mutation_p.L474V|EML3_ENST00000531557.1_Missense_Mutation_p.L257V NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 474 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TCTCCAGTGAGAATGTCTCCA 0.552000 27 90 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825505 4825505 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:4825505C>T ENST00000380382.1 - 1 342 c.343G>A c.(343-345)Gcc>Acc p.A115T MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36T|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GCATACGTGGCACAGAACGGA 0.512000 6 21 0 0 1 0 0 SPO11 23626 broad.mit.edu 37 20 55917836 55917836 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr20:55917836G>T ENST00000371263.3 + 12 1120 c.1011G>T c.(1009-1011)atG>atT p.M337I SPO11_ENST00000345868.4_Missense_Mutation_p.M299I|SPO11_ENST00000371260.4_Missense_Mutation_p.M295I NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 337 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) GGGACCAAATGAAACTTGACA 0.333000 Editing and processing nucleases 3 15 1 1 1 1 0 PRTG 283659 broad.mit.edu 37 15 55919293 55919293 + Nonsense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr15:55919293G>C ENST00000389286.4 - 17 2887 c.2840C>G c.(2839-2841)tCa>tGa p.S947* NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 947 multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GCCAGTCATTGATTTTTGGTC 0.358000 10 33 0 0 1 0 0 CYTH1 9267 broad.mit.edu 37 17 76694913 76694913 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr17:76694913C>T ENST00000589297.1 - 8 1203 c.511G>A c.(511-513)Gag>Aag p.E171K CYTH1_ENST00000585509.1_Missense_Mutation_p.E171K|CYTH1_ENST00000361101.4_Missense_Mutation_p.E230K|CYTH1_ENST00000591455.1_Missense_Mutation_p.E230K|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Missense_Mutation_p.E230K Q15438 CYH1_HUMAN cytohesin 1 230 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 CGGAGGAGCTCCTCCGGCAGG 0.488000 58 128 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167642273 167642273 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:167642273G>A ENST00000519204.1 + 20 3829 c.3711G>A c.(3709-3711)ccG>ccA p.P1237P TENM2_ENST00000520394.1_Silent_p.P1119P|TENM2_ENST00000518659.1_Silent_p.P1358P|TENM2_ENST00000403607.2_Silent_p.P1182P|TENM2_ENST00000545108.1_Silent_p.P1357P teneurin transmembrane protein 2 TGATGAGCCCGAGAGGTAAAG 0.537000 17 51 0 0 1 0 0 NOXRED1 122945 broad.mit.edu 37 14 77873011 77873011 + Silent SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr14:77873011T>A ENST00000298358.3 - 4 737 c.738A>T c.(736-738)ccA>ccT p.P246P NOXRED1_ENST00000380835.2_Intron Q6NXP6 CN148_HUMAN NADP-dependent oxidoreductase domain containing 1 0 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 AAGATAGCAATGGGCCAACAG 0.443000 15 42 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67410682 67410682 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:67410682G>A ENST00000329956.6 + 11 1732 c.1713G>A c.(1711-1713)ccG>ccA p.P571P LRRC36_ENST00000563189.1_Silent_p.P450P|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000435835.3_Intron NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 571 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CTTCTCAGCCGAGGTGTTGCT 0.527000 22 81 0 0 1 0 0 TTC29 83894 broad.mit.edu 37 4 147824762 147824762 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:147824762T>C ENST00000513335.1 - 7 797 c.598A>G c.(598-600)Aaa>Gaa p.K200E TTC29_ENST00000398886.4_Missense_Mutation_p.K200E|TTC29_ENST00000325106.4_Missense_Mutation_p.K174E Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 174 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) CAGTCAATTTTGATCAGCTGA 0.438000 4 7 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71444820 71444820 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr14:71444820C>G ENST00000304743.2 + 6 2212 c.1766C>G c.(1765-1767)aCc>aGc p.T589S PCNX_ENST00000238570.5_Missense_Mutation_p.T589S|PCNX_ENST00000439984.3_Missense_Mutation_p.T589S NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 589 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTTTCTGGTACCAAGCCACAC 0.478000 15 54 0 0 1 0 0 AGER 177 broad.mit.edu 37 6 32148967 32148967 + Nonsense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:32148967G>A ENST00000375076.4 - 11 1269 c.1168C>T c.(1168-1170)Cag>Tag p.Q390* AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.S338L|AGER_ENST00000375069.3_Nonsense_Mutation_p.Q280*|AGER_ENST00000375070.3_Nonsense_Mutation_p.Q421*|RNF5_ENST00000427134.2_Intron|AGER_ENST00000438221.2_3'UTR|AGER_ENST00000375065.5_3'UTR NM_001136.4|NM_001206929.1|NM_001206932.1 NP_001127.1|NP_001193858.1|NP_001193861.1 Q15109 RAGE_HUMAN advanced glycosylation end product-specific receptor 390 cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 TCCTCCGACTGATTCAGTTCT 0.572000 62 206 0 0 1 0 0 RHCE 6006 broad.mit.edu 37 1 25717249 25717249 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:25717249C>T ENST00000349320.3 - 7 1132 c.744G>A c.(742-744)aaG>aaA p.K248K RHCE_ENST00000349438.4_Silent_p.K264K|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Silent_p.K264K|RHCE_ENST00000243186.6_Silent_p.K264K|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Silent_p.K264K|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Silent_p.K264K|RHCE_ENST00000374352.2_Silent_p.K248K P18577 RHCE_HUMAN Rh blood group, CcEe antigens 264 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) CCATGCTGATCTTCCTTTGGG 0.557000 36 100 0 0 1 0 0 ORC6 23594 broad.mit.edu 37 16 46731459 46731459 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:46731459G>A ENST00000566860.1 + 6 861 c.574G>A c.(574-576)Gaa>Aaa p.E192K ORC6_ENST00000568364.2_3'UTR|ORC6_ENST00000219097.2_Missense_Mutation_p.E241K|ORC6_ENST00000575571.1_3'UTR Q9Y5N6 ORC6_HUMAN origin recognition complex, subunit 6 241 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 AAAAATTTTGGAAAATGCTGC 0.398000 10 22 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72102335 72102335 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:72102335C>G ENST00000425175.1 + 2 159 c.42C>G c.(40-42)ctC>ctG p.L14L SLC4A4_ENST00000264485.5_Silent_p.L14L|SLC4A4_ENST00000351898.6_Silent_p.L14L NM_001134742.1 NP_001128214.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 14 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CTTCCTTCCTCAAGCATGTGT 0.423000 6 34 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100482979 100482979 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:100482979C>T ENST00000388793.4 + 10 1522 c.1302C>T c.(1300-1302)gcC>gcT p.A434A SRRT_ENST00000347433.4_Silent_p.A435A|SRRT_ENST00000457580.2_Silent_p.A435A|SRRT_ENST00000432932.1_Silent_p.A434A NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 435 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 TCTCCCGGGCCGAGATCATCT 0.652000 13 44 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530254 80530254 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:80530254G>T ENST00000295057.3 - 2 1347 c.691C>A c.(691-693)Cgc>Agc p.R231S CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R231S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 231 axon|endoplasmic reticulum membrane|growth cone|integral to membrane p.R231C(2) NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GAGATGAGGCGCGGGAAGTGG 0.582000 HNSCC(69;0.2) 25 73 1.42536e-11 1.60353e-11 1 1 0 PTPN7 5778 broad.mit.edu 37 1 202124662 202124662 + Splice_Site SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:202124662C>G ENST00000309017.3 - 5 1555 c.783_splice c.e5+1 p.R261_splice PTPN7_ENST00000367279.4_Splice_Site_p.R195_splice|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Splice_Site_p.R156_splice|PTPN7_ENST00000492977.1_5'UTR NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 156 Tyrosine-protein phosphatase. cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 GCCACTCACTCGGATGTAGTT 0.547000 8 20 0 0 1 0 0 PPP3CA 5530 broad.mit.edu 37 4 101947115 101947115 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:101947115G>A ENST00000394854.3 - 14 2156 c.1473C>T c.(1471-1473)ccC>ccT p.P491P PPP3CA_ENST00000394853.4_Silent_p.P481P|PPP3CA_ENST00000323055.6_Silent_p.P439P|PPP3CA_ENST00000512215.1_Silent_p.P259P|PPP3CA_ENST00000507176.1_Silent_p.P393P|PPP3CA_ENST00000523694.2_Silent_p.P424P NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 491 protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) TGGCGTCAGAGGGCATGGCAT 0.493000 30 118 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215809784 215809784 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:215809784G>C ENST00000272895.7 - 49 7503 c.7284C>G c.(7282-7284)ctC>ctG p.L2428L ABCA12_ENST00000389661.4_Silent_p.L2110L|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2428 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGATCTTCCAGAGGTGCCGTT 0.383000 4 24 0 0 1 0 0 DDX51 317781 broad.mit.edu 37 12 132627407 132627407 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr12:132627407G>C ENST00000397333.3 - 3 574 c.536C>G c.(535-537)cCa>cGa p.P179R NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 179 rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) CAGCCACCTTGGCAGGAAAGG 0.572000 15 68 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147092152 147092152 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:147092152C>G ENST00000234739.3 + 8 2931 c.2191C>G c.(2191-2193)Cag>Gag p.Q731E NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 731 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) ATCCAACTCTCAGATGATACC 0.537000 T """IGH@, IGL@""" B-ALL 9 24 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215852510 215852510 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:215852510G>A ENST00000272895.7 - 27 4056 c.3837C>T c.(3835-3837)taC>taT p.Y1279Y ABCA12_ENST00000389661.4_Silent_p.Y961Y NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1279 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTGCCATACCGTATGTCCCTG 0.413000 5 12 0 0 1 0 0 SPINK14 408187 broad.mit.edu 37 5 147553847 147553847 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:147553847C>G ENST00000356972.1 + 3 162 c.162C>G c.(160-162)gtC>gtG p.V54V SPINK14_ENST00000562793.1_Intron NM_001001325.1 NP_001001325.1 Q6IE38 ISK14_HUMAN serine peptidase inhibitor, Kazal type 14 (putative) 54 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity breast(1)|large_intestine(1)|lung(1) 3 ATGGAACGGTCAACCCCTGCC 0.413000 16 19 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160464244 160464244 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:160464244C>A ENST00000356956.1 + 12 1693 c.1545C>A c.(1543-1545)ttC>ttA p.F515L NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 515 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AGCATTTTTTCATTAATATTT 0.478000 23 62 2.89027e-11 3.2271e-11 1 1 0 HAO1 54363 broad.mit.edu 37 20 7886943 7886943 + Silent SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr20:7886943A>G ENST00000378789.3 - 4 630 c.579T>C c.(577-579)ttT>ttC p.F193F NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 193 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCTCAGGAGAAAATGATAAAG 0.343000 3 16 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62226518 62226518 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr15:62226518C>A ENST00000261517.5 - 49 5841 c.5768G>T c.(5767-5769)tGg>tTg p.W1923L VPS13C_ENST00000395898.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000249837.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000395896.4_Missense_Mutation_p.W1923L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1923 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TGAGTCTGTCCAATCTTCTTG 0.274000 13 49 2.27111e-07 2.40043e-07 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 16 0 0 1 0 0 RCC1 1104 broad.mit.edu 37 1 28858861 28858861 + Splice_Site SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:28858861G>A ENST00000373833.6 + 7 725 c.441_splice c.e7+1 p.R147_splice RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373832.1_Splice_Site_p.R147_splice|RCC1_ENST00000373831.3_Splice_Site_p.R178_splice|RCC1_ENST00000398958.2_Splice_Site_p.R147_splice P18754 RCC1_HUMAN regulator of chromosome condensation 1 147 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GGCTCCTTCCGGGTAAGGCTG 0.547000 12 37 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1250445 1250445 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:1250445C>T ENST00000348261.5 + 7 1241 c.993C>T c.(991-993)ggC>ggT p.G331G CACNA1H_ENST00000358590.4_Silent_p.G331G|CACNA1H_ENST00000565831.1_Silent_p.G331G NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 331 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AGGGGGTGGGCGCTGCACGCA 0.662000 7 31 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121411137 121411137 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr3:121411137C>G ENST00000393667.3 - 14 7184 c.7074G>C c.(7072-7074)aaG>aaC p.K2358N GOLGB1_ENST00000340645.5_Missense_Mutation_p.K2353N NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2353 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CATAACTGAACTTAGAATTTT 0.368000 11 34 0 0 1 0 0 RBBP5 5929 broad.mit.edu 37 1 205073025 205073025 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:205073025C>T ENST00000264515.6 - 5 623 c.482G>A c.(481-483)aGg>aAg p.R161K RBBP5_ENST00000367164.1_Missense_Mutation_p.R161K NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 161 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) TTCCCCTCGCCTATCAAAAGA 0.433000 25 93 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14794056 14794056 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr12:14794056C>T ENST00000261170.3 - 18 2164 c.2028G>A c.(2026-2028)cgG>cgA p.R676R NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 676 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGGTTTCTTTCCGCAGGATGA 0.522000 12 22 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49481247 49481247 + Silent SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr19:49481247G>T ENST00000323798.3 - 10 1438 c.1242C>A c.(1240-1242)ccC>ccA p.P414P GYS1_ENST00000541188.1_Silent_p.P334P|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Silent_p.P47P|GYS1_ENST00000263276.6_Silent_p.P350P NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 414 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TGTTCATGTCGGGAAGGCTCC 0.542000 21 51 1.00905e-13 1.15264e-13 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103483409 103483409 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:103483409G>A ENST00000358392.2 - 11 1733 c.1416C>T c.(1414-1416)ggC>ggT p.G472G COL11A1_ENST00000512756.1_Silent_p.G344G|COL11A1_ENST00000353414.4_Silent_p.G421G|COL11A1_ENST00000370096.3_Silent_p.G460G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 460 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTCCAGTGGGGCCTTGTAGAC 0.388000 31 59 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127797497 127797497 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:127797497C>G ENST00000556132.1 - 6 2538 c.1674G>C c.(1672-1674)caG>caC p.Q558H SOGA3_ENST00000465909.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000525778.1_Missense_Mutation_p.Q558H|SOGA3_ENST00000368268.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000481848.2_Missense_Mutation_p.Q558H NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 558 integral to membrane ATCTGTACTTCTGGAGCTCGT 0.493000 15 65 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26881104 26881104 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:26881104G>C ENST00000374168.2 + 9 785 c.631G>C c.(631-633)Gag>Cag p.E211Q RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E220Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E195Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E211Q NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 211 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) CCTGAGCAAAGAGGCCATTGA 0.602000 26 162 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75679473 75679473 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:75679473G>T ENST00000370855.5 - 22 1992 c.1879C>A c.(1879-1881)Ctg>Atg p.L627M SLC44A5_ENST00000370859.3_Missense_Mutation_p.L627M|SLC44A5_ENST00000535611.1_Missense_Mutation_p.L497M NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 627 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 AGGAAGGCCAGAACACCTACA 0.363000 14 46 1.5842e-08 1.70474e-08 1 1 0 MIF4GD 57409 broad.mit.edu 37 17 73265430 73265430 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr17:73265430C>G ENST00000577542.1 - 3 465 c.203G>C c.(202-204)aGa>aCa p.R68T MIF4GD_ENST00000245551.5_Missense_Mutation_p.R61T|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R68T|MIF4GD_ENST00000325102.8_Intron A9UHW6 MI4GD_HUMAN MIF4G domain containing 27 MIF4G. regulation of translation|RNA metabolic process cytoplasm|nucleus protein C-terminus binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 10 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) AGACAAACCTCTGTACTGCGT 0.498000 11 65 0 0 1 0 0 MRPL42 28977 broad.mit.edu 37 12 93873187 93873187 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr12:93873187C>A ENST00000549982.1 + 4 319 c.158C>A c.(157-159)tCt>tAt p.S53Y MRPL42_ENST00000548545.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000552217.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000361630.2_Missense_Mutation_p.S53Y|MRPL42_ENST00000547098.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000393128.4_Missense_Mutation_p.S53Y NM_014050.3|NM_172177.3 NP_054769.1|NP_751917.1 Q9Y6G3 RM42_HUMAN mitochondrial ribosomal protein L42 53 translation mitochondrial small ribosomal subunit structural constituent of ribosome p.S53C(2) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2) 7 GCTCTGACTTCTGATGGCAGG 0.323000 8 14 1.58986e-06 1.66264e-06 1 1 0 TPCN2 219931 broad.mit.edu 37 11 68822821 68822821 + Splice_Site SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:68822821G>A ENST00000294309.3 + 4 530 c.e4+1 TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTCTGTGAAGGTGAGGCGGGC 0.672000 22 24 0 0 1 0 0 EXOC1 55763 broad.mit.edu 37 4 56762881 56762881 + Splice_Site SNP A A C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:56762881A>C ENST00000381295.2 + 16 2301 c.e16-1 EXOC1_ENST00000349598.6_Splice_Site|EXOC1_ENST00000346134.7_Splice_Site NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) GCCTAACTTTAGAGTAACCAA 0.303000 9 19 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154360714 154360714 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:154360714A>G ENST00000414028.2 + 1 85 c.35A>G c.(34-36)aAt>aGt p.N12S OPRM1_ENST00000434900.2_Missense_Mutation_p.N105S|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000330432.7_Missense_Mutation_p.N12S|OPRM1_ENST00000229768.5_Missense_Mutation_p.N12S|OPRM1_ENST00000419506.2_Missense_Mutation_p.N12S|OPRM1_ENST00000452687.2_Missense_Mutation_p.N12S|OPRM1_ENST00000337049.4_Missense_Mutation_p.N12S|OPRM1_ENST00000435918.2_Missense_Mutation_p.N12S|OPRM1_ENST00000428397.2_Missense_Mutation_p.N12S|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000360422.4_Missense_Mutation_p.N12S|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000524163.1_Missense_Mutation_p.N12S NM_001145284.2 NP_001138756.1 P35372 OPRM_HUMAN opioid receptor, mu 1 12 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AACGCCAGCAATTGCACTGAT 0.632000 6 26 0 0 1 0 0 UMPS 7372 broad.mit.edu 37 3 124454085 124454085 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr3:124454085A>G ENST00000232607.2 + 2 408 c.302A>G c.(301-303)aAg>aGg p.K101R UMPS_ENST00000536109.1_Missense_Mutation_p.K9R|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 101 OPRTase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) AAAGAAACAAAGGATTATGGT 0.338000 4 12 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17366690 17366690 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr9:17366690T>A ENST00000380647.3 + 13 2046 c.1962T>A c.(1960-1962)aaT>aaA p.N654K CNTLN_ENST00000425824.1_Missense_Mutation_p.N654K|CNTLN_ENST00000262360.5_Missense_Mutation_p.N654K Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 654 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AAGAATTGAATAGATGTGTGG 0.269000 5 22 0 0 1 0 0 WBSCR28 135886 broad.mit.edu 37 7 73275545 73275545 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:73275545C>G ENST00000320531.2 + 1 57 c.21C>G c.(19-21)gtC>gtG p.V7V NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 7 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) TTCCTCCAGTCAGATCCAGCC 0.617000 16 49 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9712819 9712819 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr3:9712819G>A ENST00000296003.4 + 6 764 c.642G>A c.(640-642)ctG>ctA p.L214L MTMR14_ENST00000351233.5_Silent_p.L214L|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.L214L NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 214 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) TCTGTGACCTGATGGTGGAGA 0.458000 12 32 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17379208 17379208 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:17379208G>C ENST00000242057.4 + 10 2402 c.1759G>C c.(1759-1761)Gat>Cat p.D587H NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 587 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) GTATGTCCAAGATTCTTTAAG 0.393000 18 71 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751494 140751494 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:140751494C>T ENST00000576222.1 + 1 1664 c.1533C>T c.(1531-1533)agC>agT p.S511S PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGGAGCGGGGTGGTGT 0.667000 13 72 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48428702 48428702 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr10:48428702A>G ENST00000224605.2 - 2 1449 c.1184T>C c.(1183-1185)aTc>aCc p.I395T NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 395 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 TTTCGGTGAGATTATCCATTC 0.532000 11 46 0 0 1 0 0 CD81-AS1 101927682 broad.mit.edu 37 11 2356559 2356559 + RNA SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:2356559C>G ENST00000413483.1 - 0 407 RPL26P30_ENST00000602923.1_RNA TGCATTTTCTCAATAAGTTCT 0.393000 6 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8959696 8959696 + Missense_Mutation SNP C C T rs61748893 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr19:8959696C>T ENST00000397910.4 - 84 43639 c.43436G>A c.(43435-43437)cGc>cAc p.R14479H MUC16_ENST00000380951.5_Missense_Mutation_p.R1120H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 22124 SEA 16. Missing (in Ref. 3; AAK74120). 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 CTTCCGCCGGCGGGTGGTCAC 0.577000 6 10 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31422660 31422660 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:31422660G>A ENST00000389202.2 + 14 1578 c.1529G>A c.(1528-1530)cGt>cAt p.R510H NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 510 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCTGTTCTCCGTGGTGAGCAG 0.637000 45 144 0 0 1 0 0 CHRDL1 91851 broad.mit.edu 37 X 109919583 109919583 + Nonsense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chrX:109919583C>T ENST00000218054.4 - 12 1443 c.1247G>A c.(1246-1248)tGg>tAg p.W416* CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.W410*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.W418*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.W416*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.W417*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.W337*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.W338* NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 410 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GAAGATCTTCCACTGGCCTAA 0.458000 8 45 0 0 1 0 0 SBK1 388228 broad.mit.edu 37 16 28328856 28328856 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:28328856C>T ENST00000341901.4 + 2 933 c.144C>T c.(142-144)gaC>gaT p.D48D NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 48 cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 CCGCCAGCGACGTCACCAAGC 0.637000 OREG0023701 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 49 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49416416 49416416 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr12:49416416C>T ENST00000301067.7 - 51 16294 c.16295G>A c.(16294-16296)cGg>cAg p.R5432Q NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.R5162Q(1) CACCTCGTTCCGAATGATGGT 0.552000 52 151 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57925925 57925925 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr15:57925925G>C ENST00000574161.1 + 8 1038 c.919G>C c.(919-921)Gag>Cag p.E307Q POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.E307Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E307Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.E238Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E276Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E307Q|GCOM1_ENST00000396180.1_Missense_Mutation_p.E276Q|MYZAP_ENST00000267853.5_Missense_Mutation_p.E307Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E307Q NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 307 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 CAGGCTGATTGAGCGCATGGA 0.502000 9 60 0 0 1 0 0 FKBP5 2289 broad.mit.edu 37 6 35544861 35544861 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:35544861G>C ENST00000536438.1 - 11 1491 c.1176C>G c.(1174-1176)tcC>tcG p.S392S FKBP5_ENST00000539068.1_Silent_p.S392S|FKBP5_ENST00000540787.1_Silent_p.S213S|FKBP5_ENST00000357266.4_Silent_p.S392S NM_001145775.1 NP_001139247.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 392 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 TCTGGCACATGGAGATCTGCA 0.517000 26 68 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13055849 13055849 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr18:13055849T>A ENST00000506447.1 + 19 3340 c.3260T>A c.(3259-3261)aTg>aAg p.M1087K CEP192_ENST00000325971.8_Missense_Mutation_p.M491K|CEP192_ENST00000430049.2_Missense_Mutation_p.M612K NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 682 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GAACGGGCTATGGAAAAATTG 0.363000 13 29 0 0 1 0 0 RDH12 145226 broad.mit.edu 37 14 68191258 68191258 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr14:68191258G>A ENST00000551171.1 + 4 461 c.137G>A c.(136-138)gGc>gAc p.G46D RDH12_ENST00000539142.1_Missense_Mutation_p.G46D|RDH12_ENST00000267502.3_Missense_Mutation_p.G46D NM_152443.2 NP_689656.2 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 46 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4) 12 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) GTGATCACTGGCGCCAACACG 0.542000 18 59 0 0 1 0 0 GPR61 83873 broad.mit.edu 37 1 110086737 110086737 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:110086737G>C ENST00000527748.1 + 2 1776 c.1093G>C c.(1093-1095)Gag>Cag p.E365Q NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 365 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) GCCAGCTCCAGAGGAGGAGCT 0.567000 28 32 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72299451 72299451 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr10:72299451G>T ENST00000263563.6 + 15 2109 c.1841G>T c.(1840-1842)cGc>cTc p.R614L NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 AGCCAGCACCGCAGGGCCTGT 0.662000 22 86 3.5997e-14 4.12784e-14 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55996672 55996672 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr10:55996672A>G ENST00000373965.2 - 9 1290 c.896T>C c.(895-897)aTt>aCt p.I299T PCDH15_ENST00000395440.1_Missense_Mutation_p.I299T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.I299T|PCDH15_ENST00000361849.3_Missense_Mutation_p.I299T|PCDH15_ENST00000395438.1_Missense_Mutation_p.I299T|PCDH15_ENST00000437009.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395433.1_Missense_Mutation_p.I277T|PCDH15_ENST00000395446.1_Missense_Mutation_p.I299T|PCDH15_ENST00000373957.3_Missense_Mutation_p.I277T|PCDH15_ENST00000320301.6_Missense_Mutation_p.I299T|PCDH15_ENST00000373955.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395432.2_Missense_Mutation_p.I262T|PCDH15_ENST00000414778.1_Missense_Mutation_p.I304T|PCDH15_ENST00000395442.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395445.1_Missense_Mutation_p.I299T NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 299 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGGCGTAACAATAATGGGGTT 0.408000 HNSCC(58;0.16) 23 57 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156236414 156236414 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:156236414G>A ENST00000361813.5 - 11 1317 c.1173C>T c.(1171-1173)ctC>ctT p.L391L SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 391 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) CATGATTGACGAGGTGGGAAA 0.582000 16 48 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112023 57112023 + Silent SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr12:57112023T>C ENST00000454682.1 - 3 3572 c.3291A>G c.(3289-3291)ccA>ccG p.P1097P NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_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 CTTTGGGGGATGGGGTAGCTG 0.662000 T BCL6 NHL 24 61 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219892531 219892531 + Silent SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:219892531G>T ENST00000341552.5 - 13 2135 c.2052C>A c.(2050-2052)atC>atA p.I684I CCDC108_ENST00000453220.1_Silent_p.I684I|CCDC108_ENST00000441968.1_Silent_p.I684I|CCDC108_ENST00000410037.1_Silent_p.I619I|CCDC108_ENST00000409865.3_Silent_p.I673I NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 684 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGACCACCATGATCTTGCCCT 0.622000 7 41 0.00307968 0.00315402 1 1 0 EDC4 23644 broad.mit.edu 37 16 67914646 67914646 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:67914646G>C ENST00000358933.5 + 18 2523 c.2284G>C c.(2284-2286)Gag>Cag p.E762Q NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 762 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTCTGCACCAGAGGGCCTTGA 0.657000 45 173 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16577604 16577604 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:16577604G>A ENST00000375592.3 - 10 1931 c.1715C>T c.(1714-1716)tCg>tTg p.S572L NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 572 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TGCAGAGGCCGAGGGGCCTTT 0.637000 17 54 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233408064 233408064 + Silent SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:233408064G>T ENST00000389494.3 + 8 906 c.885G>T c.(883-885)gtG>gtT p.V295V CHRNG_ENST00000389492.3_Silent_p.V243V NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 295 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCAAGAAGGTGCCTGAAACCT 0.592000 13 33 7.03913e-09 7.63e-09 1 1 0 MGAM 8972 broad.mit.edu 37 7 141736626 141736626 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:141736626C>A ENST00000475668.2 + 18 2134 c.2080C>A c.(2080-2082)Cag>Aag p.Q694K MGAM_ENST00000549489.2_Missense_Mutation_p.Q694K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 694 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTCCCAGGACCAGGATCCTGC 0.488000 40 115 7.53189e-24 8.80698e-24 1 1 0 PIGG 54872 broad.mit.edu 37 4 493239 493239 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:493239G>C ENST00000453061.2 + 1 221 c.115G>C c.(115-117)Gaa>Caa p.E39Q PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.E39Q|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E39Q|PIGG_ENST00000536264.1_5'UTR NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 39 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 TGCCAGAGCGGAACACGGAGC 0.652000 5 13 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38792304 38792304 + Splice_Site SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr15:38792304C>G ENST00000310803.5 - 14 1897 c.1720_splice c.e14+1 p.D574_splice RASGRP1_ENST00000539159.1_Splice_Site_p.D526_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.D625_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.D539_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.D539_splice|RASGRP1_ENST00000558164.1_Splice_Site_p.G539_splice NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 574 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TGAGTCTTACCTTTACATCGA 0.428000 17 63 0 0 1 0 0 KCNJ14 3770 broad.mit.edu 37 19 48967826 48967826 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr19:48967826A>T ENST00000391884.1 + 2 1579 c.1103A>T c.(1102-1104)gAa>gTa p.E368V KCNJ14_ENST00000342291.2_Missense_Mutation_p.E368V Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel, subfamily J, member 14 368 voltage-gated potassium channel complex inward rectifier potassium channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) GAGCTGGATGAACGGGCAGAG 0.557000 12 52 0 0 1 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217509 26217509 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:26217509A>T ENST00000303910.2 + 1 345 c.307A>T c.(307-309)Atc>Ttc p.I103F NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 103 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) TCGCGTGACCATCGCGCAGGG 0.577000 19 69 0 0 1 0 0 PFDN4 5203 broad.mit.edu 37 20 52830980 52830980 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr20:52830980G>A ENST00000371419.2 + 2 369 c.115G>A c.(115-117)Gaa>Aaa p.E39K PFDN4_ENST00000487129.1_3'UTR NM_002623.3 NP_002614.2 Q9NQP4 PFD4_HUMAN prefoldin subunit 4 39 'de novo' posttranslational protein folding prefoldin complex chaperone binding|unfolded protein binding endometrium(1)|kidney(2) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206) GCTGAAGGAAGAAATAGAAGT 0.284000 4 11 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160525931 160525931 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:160525931A>T ENST00000356956.1 + 48 7439 c.7291A>T c.(7291-7293)Agc>Tgc p.S2431C IGF2R_ENST00000475584.1_Intron NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 2431 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TGGGGCAGAGAGCTCCCACCC 0.607000 22 78 0 0 1 0 0 SGK2 10110 broad.mit.edu 37 20 42198105 42198105 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr20:42198105C>T ENST00000373100.1 + 7 769 c.309C>T c.(307-309)ttC>ttT p.F103F SGK2_ENST00000426287.1_Silent_p.F129F|SGK2_ENST00000341458.4_Silent_p.F163F|SGK2_ENST00000423407.3_Silent_p.F103F|SGK2_ENST00000373092.3_Silent_p.F103F|SGK2_ENST00000373077.1_Silent_p.F102F Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 163 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GCTACTCCTTCCAGACACCTG 0.617000 16 46 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558224 149558224 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:149558224C>G ENST00000223210.4 + 7 2220 c.1975C>G c.(1975-1977)Ctg>Gtg p.L659V NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 CTACATCACTCTGGCCCCTCT 0.587000 4 23 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48798592 48798592 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr8:48798592G>C ENST00000314191.2 - 37 4742 c.4686C>G c.(4684-4686)ttC>ttG p.F1562L PRKDC_ENST00000338368.3_Missense_Mutation_p.F1562L|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1563 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TCGTTTCTGAGAACAAGCTAT 0.473000 Non-homologous end-joining 12 126 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107692621 107692621 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:107692621C>G ENST00000388781.3 - 26 3920 c.3837G>C c.(3835-3837)aaG>aaC p.K1279N LAMB4_ENST00000205386.4_Missense_Mutation_p.K1279N|LAMB4_ENST00000388780.3_Missense_Mutation_p.K1279N NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1279 Domain II. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CTGCTTCATTCTTTGCTCTTT 0.358000 15 55 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123594531 123594531 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:123594531T>A ENST00000340011.5 + 3 1264 c.907T>A c.(907-909)Tat>Aat p.Y303N SPAM1_ENST00000460182.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000439500.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y303N|SPAM1_ENST00000223028.7_Missense_Mutation_p.Y303N NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 303 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GGTTTTTGCATATACCCGCAT 0.403000 8 26 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139400146 139400146 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr9:139400146C>T ENST00000277541.6 - 25 4277 c.4202G>A c.(4201-4203)gGg>gAg p.G1401E NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1401 EGF-like 36. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTCACAGGTCCCCTGGTTGTA 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 9 0 0 1 0 0 SNHG24 101929369 broad.mit.edu 37 14 101441178 101441178 + RNA SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr14:101441178T>A ENST00000554693.2 + 0 462 SNORD114-17_ENST00000364699.1_RNA ATTGGAGTTATGGACGATGAA 0.373000 14 33 0 0 1 0 0 DEPDC7 91614 broad.mit.edu 37 11 33049326 33049326 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:33049326C>T ENST00000311388.3 + 3 908 c.532C>T c.(532-534)Cat>Tat p.H178Y DEPDC7_ENST00000241051.3_Missense_Mutation_p.H187Y NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 187 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 caactcccctcatgtaaatat 0.363000 5 12 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52840499 52840499 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:52840499C>T ENST00000371568.3 - 16 2592 c.2374G>A c.(2374-2376)Gaa>Aaa p.E792K ORC1_ENST00000371566.1_Missense_Mutation_p.E792K NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 792 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AACGTGGCTTCCTCCAGTCCT 0.433000 3 23 0 0 1 0 0 LAP3 51056 broad.mit.edu 37 4 17598725 17598725 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:17598725G>A ENST00000226299.4 + 9 1319 c.1045G>A c.(1045-1047)Gtt>Att p.V349I LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.V318I NM_015907.2 NP_056991.2 P28838 AMPL_HUMAN leucine aminopeptidase 3 349 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1) 20 GCCGGGGGATGTTGTTAGAGC 0.502000 7 65 0 0 1 0 0 FAM114A2 10827 broad.mit.edu 37 5 153382442 153382442 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:153382442C>G ENST00000351797.4 - 10 1157 c.1081G>C c.(1081-1083)Gaa>Caa p.E361Q FAM114A2_ENST00000520313.1_Missense_Mutation_p.E291Q|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000520667.1_Missense_Mutation_p.E361Q NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114, member A2 361 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 TCAGTATTTTCTGCTTCCGAC 0.383000 22 92 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672165 186672165 + Silent SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:186672165G>T ENST00000343098.5 + 17 18399 c.18399G>T c.(18397-18399)ctG>ctT p.L6133L FSIP2_ENST00000424728.1_Silent_p.L6044L NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CCACAGAACTGAATTTCCTTC 0.338000 11 52 1.5842e-08 1.70474e-08 1 1 0 PCDHA6 56142 broad.mit.edu 37 5 140209569 140209569 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:140209569C>A ENST00000529310.1 + 1 2007 c.1893C>A c.(1891-1893)atC>atA p.I631I PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCGAGATCAGCACCACTC 0.672000 18 103 1.56452e-12 1.77353e-12 1 1 0 C14orf79 122616 broad.mit.edu 37 14 105452973 105452973 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr14:105452973C>G ENST00000547315.1 + 1 844 c.205C>G c.(205-207)Cct>Gct p.P69A NM_174891.3 NP_777551.2 Q96F83 CN079_HUMAN chromosome 14 open reading frame 79 69 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) TGCCCGATGTCCTGACCCTGG 0.582000 19 49 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49736230 49736230 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr3:49736230G>C ENST00000327697.6 + 9 757 c.613G>C c.(613-615)Gat>Cat p.D205H RNF123_ENST00000432042.1_Missense_Mutation_p.D59H NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 205 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GATTGACCTGGATGATGGCAC 0.622000 6 33 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216398 20216398 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr14:20216398T>C ENST00000331723.1 + 1 812 c.812T>C c.(811-813)aTa>aCa p.I271T NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGATAAGATATTCTCCTTG 0.433000 14 49 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126754881 126754881 + Missense_Mutation SNP A A G rs79671291 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:126754881A>G ENST00000274473.6 + 12 1642 c.1375A>G c.(1375-1377)Aaa>Gaa p.K459E MEGF10_ENST00000503335.2_Missense_Mutation_p.K459E|MEGF10_ENST00000508365.1_Missense_Mutation_p.K459E|MEGF10_ENST00000418761.2_Missense_Mutation_p.K459E NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 459 EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTGTGGCTGTAAAAATGATGC 0.463000 23 77 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48603047 48603047 + Nonsense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr18:48603047C>T ENST00000342988.3 + 11 1886 c.1348C>T c.(1348-1350)Cag>Tag p.Q450* SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q354*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q450* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 450 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.R441fs*16(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GATGCAGCAGCAGGCGGCTAC 0.468000 13 25 0 0 1 0 0 RSPRY1 89970 broad.mit.edu 37 16 57241994 57241994 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:57241994G>T ENST00000537866.1 + 3 1248 c.375G>T c.(373-375)atG>atT p.M125I RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125I Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 125 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 CCTATTCAATGATAACATTAC 0.294000 11 66 4.36969e-10 4.84253e-10 1 1 0 TARBP1 6894 broad.mit.edu 37 1 234556462 234556462 + Missense_Mutation SNP G G C rs147943473 byFrequency TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:234556462G>C ENST00000040877.1 - 21 3540 c.3541C>G c.(3541-3543)Cct>Gct p.P1181A NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1181 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TCAAGTCTAGGGAAAAGTACC 0.358000 4 44 0 0 1 0 0 TCTE3 6991 broad.mit.edu 37 6 170143280 170143280 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:170143280C>T ENST00000366774.3 - 3 482 c.382G>A c.(382-384)Gaa>Aaa p.E128K NM_174910.1 NP_777570.1 Q8IZS6 TC1D3_HUMAN t-complex-associated-testis-expressed 3 128 transport cytoplasm|dynein complex|membrane|microtubule motor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1) 4 Breast(66;0.000338) OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157) TCTGCCAATTCAAGTGACAAG 0.294000 7 40 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132399963 132399963 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr12:132399963C>G ENST00000321867.4 + 18 1957 c.1606C>G c.(1606-1608)Cca>Gca p.P536A NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 536 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GTCCCCTCGTCCAGGTGGGTG 0.632000 12 22 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167367 140167367 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:140167367C>T ENST00000504120.2 + 1 1492 c.1492C>T c.(1492-1494)Cgg>Tgg p.R498W PCDHA1_ENST00000378133.3_Missense_Mutation_p.R498W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R498W NM_018900.2 NP_061723.1 p.R498W(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGAACGGCGGGTGGGCGA 0.672000 36 95 0 0 1 0 0 ID2 3398 broad.mit.edu 37 2 8822472 8822472 + Silent SNP G G A rs149826728 by1000genomes TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:8822472G>A ENST00000234091.4 + 3 1037 c.177G>A c.(175-177)gtG>gtA p.V59V ID2_ENST00000396290.1_Silent_p.V59V|ID2_ENST00000331129.3_Silent_p.V59V Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 59 Helix-loop-helix motif. cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACAAGAAGGTGAGCAAGATGG 0.547000 21 57 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr17:7578394T>C ENST00000420246.2 - 5 668 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGCGCTCATGGTGGGGGCA 0.642000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 40 0 0 1 0 0 NFYC 4802 broad.mit.edu 37 1 41213250 41213250 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:41213250G>A ENST00000372652.1 + 3 418 c.150G>A c.(148-150)aaG>aaA p.K50K NFYC_ENST00000440226.3_Silent_p.K50K|NFYC_ENST00000447388.3_Silent_p.K50K|NFYC_ENST00000427410.2_Silent_p.K50K|NFYC_ENST00000372653.1_Silent_p.K50K|NFYC_ENST00000425457.2_Silent_p.K50K|NFYC_ENST00000372654.1_Silent_p.K50K|NFYC_ENST00000308733.5_Silent_p.K50K|NFYC_ENST00000372651.1_Silent_p.K50K|NFYC_ENST00000456393.2_Silent_p.K50K Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma 50 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) GTATTAAGAAGATTATGAAAC 0.378000 5 19 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28234814 28234814 + Splice_Site SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr15:28234814T>A ENST00000354638.3 - 11 1272 c.e11-2 OCA2_ENST00000353809.5_Splice_Site|OCA2_ENST00000382996.2_Splice_Site NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCTGGGTCTCTGCAATCAAAG 0.572000 Oculocutaneous Albinism 7 30 0 0 1 0 0 PAGR1 79447 broad.mit.edu 37 16 29827930 29827930 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:29827930C>G ENST00000320330.6 + 1 646 c.84C>G c.(82-84)ctC>ctG p.L28L AC009133.20_ENST00000569039.1_RNA NM_024516.3 NP_078792.1 PAXIP1 associated glutamate-rich protein 1 CCTCCGGCCTCCAGGCTCTGG 0.687000 OREG0023722 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 9 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97527623 97527623 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:97527623G>A ENST00000305476.5 - 13 1584 c.1452C>T c.(1450-1452)ctC>ctT p.L484L NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 484 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 AGCCGGCAAAGAGCAGCTTCT 0.682000 4 17 0 0 1 0 0 DNAJC4 3338 broad.mit.edu 37 11 64001429 64001429 + Nonsense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:64001429C>A ENST00000321685.3 + 6 1056 c.591C>A c.(589-591)taC>taA p.Y197* DNAJC4_ENST00000321460.5_Nonsense_Mutation_p.Y198*|RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000355040.4_3'UTR NM_005528.3 NP_005519.2 Q9NNZ3 DNJC4_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 4 197 protein folding|response to unfolded protein integral to membrane|membrane fraction heat shock protein binding|unfolded protein binding endometrium(1)|lung(1)|prostate(1) 3 CAGCCTTCTACAACGAAGCCC 0.542000 8 112 0.000442599 0.000458021 1 1 0 ANK2 287 broad.mit.edu 37 4 114274830 114274830 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:114274830G>A ENST00000357077.4 + 38 5109 c.5056G>A c.(5056-5058)Gag>Aag p.E1686K ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1653K|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1653 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACCCCCAGATGAGACACAGAG 0.443000 6 45 0 0 1 0 0 CORO1B 57175 broad.mit.edu 37 11 67209167 67209167 + Missense_Mutation SNP T T G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:67209167T>G ENST00000545016.1 - 4 576 c.491A>C c.(490-492)cAc>cCc p.H164P CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000393893.1_Intron Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 0 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GAGGGGTCCGTGGGGGGGGGG 0.657000 4 13 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99772192 99772192 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:99772192G>A ENST00000370185.3 + 7 2415 c.1918G>A c.(1918-1920)Gaa>Aaa p.E640K LPPR4_ENST00000457765.1_Missense_Mutation_p.E582K|LPPR4_ENST00000370184.1_Missense_Mutation_p.E482K NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 640 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCCGTCCACTGAAGGTGAAGG 0.537000 12 32 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116605222 116605222 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr10:116605222C>T ENST00000369248.4 + 8 1445 c.1110C>T c.(1108-1110)ctC>ctT p.L370L FAM160B1_ENST00000369250.3_Silent_p.L370L NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 370 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 GTGATCAGCTCATTAAGGAAG 0.308000 6 15 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114682285 114682285 + Missense_Mutation SNP C C T rs138691067 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:114682285C>T ENST00000393296.1 - 2 541 c.464G>A c.(463-465)cGt>cAt p.R155H SYT6_ENST00000369547.1_Missense_Mutation_p.R70H Q5T7P8 SYT6_HUMAN synaptotagmin VI 155 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity p.R70H(1) central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCGGGTGTGACGCATGATGTG 0.622000 21 26 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161455314 161455314 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:161455314C>T ENST00000392142.4 + 2 324 c.176C>T c.(175-177)tCa>tTa p.S59L MAP3K4_ENST00000348824.7_Missense_Mutation_p.S59L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S59L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S59L NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 59 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TTGGGAGATTCAGCTTGCAAG 0.398000 12 38 0 0 1 0 0 KLHL17 339451 broad.mit.edu 37 1 900541 900541 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:900541G>A ENST00000338591.3 + 12 2006 c.1899G>A c.(1897-1899)ccG>ccA p.P633P NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch-like family member 17 633 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CATCCTCCCCGACGCTGTCCG 0.667000 19 39 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36895204 36895204 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:36895204C>T ENST00000310758.4 - 22 2783 c.2136G>A c.(2134-2136)ccG>ccA p.P712P ELMO1_ENST00000341056.3_Silent_p.P414P|ELMO1_ENST00000442504.1_Silent_p.P712P|ELMO1_ENST00000396045.3_Silent_p.P232P|ELMO1_ENST00000396040.2_Silent_p.P232P|ELMO1_ENST00000448602.1_Silent_p.P712P NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 712 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 CCTTGGGAATCGGCGGAGGTG 0.567000 14 73 0 0 1 0 0 SART3 9733 broad.mit.edu 37 12 108920071 108920071 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr12:108920071G>A ENST00000228284.3 - 16 2409 c.2175C>T c.(2173-2175)ctC>ctT p.L725L SART3_ENST00000431469.2_Silent_p.L689L NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 725 RRM 1. RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 AGGCCTCGAAGAGTGGCCTGA 0.567000 Porokeratosis 15 72 0 0 1 0 0 FAM73A 374986 broad.mit.edu 37 1 78267146 78267146 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:78267146C>G ENST00000370791.3 + 3 358 c.326C>G c.(325-327)cCa>cGa p.P109R FAM73A_ENST00000443751.2_Missense_Mutation_p.P71R NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 109 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) CCATGGGAACCAGAGCACCTC 0.358000 9 24 0 0 1 0 0 JADE1 79960 broad.mit.edu 37 4 129770191 129770191 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:129770191C>T ENST00000226319.6 + 5 633 c.353C>T c.(352-354)tCa>tTa p.S118L PHF17_ENST00000452328.2_Missense_Mutation_p.S106L|PHF17_ENST00000413543.2_Missense_Mutation_p.S118L|PHF17_ENST00000512960.1_Missense_Mutation_p.S118L|PHF17_ENST00000511647.1_Missense_Mutation_p.S118L NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 118 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TACATCGTGTCATCAGGCTCT 0.517000 23 56 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46136150 46136150 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr19:46136150C>G ENST00000536630.1 - 9 1058 c.920G>C c.(919-921)aGa>aCa p.R307T EML2_ENST00000245925.3_Missense_Mutation_p.R160T|EML2_ENST00000589876.1_Missense_Mutation_p.R160T|EML2_ENST00000587152.1_Missense_Mutation_p.R361T NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 160 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) GCACACGGCTCTGTCAAACAC 0.617000 6 22 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111160475 111160475 + Silent SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr13:111160475G>T ENST00000360467.5 + 47 5094 c.4788G>T c.(4786-4788)ccG>ccT p.P1596P COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1596 Collagen IV NC1. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GTGAGGCCCCGGCCATCGCCA 0.607000 5 49 5.9392e-07 6.23301e-07 1 1 0 PRKG2 5593 broad.mit.edu 37 4 82058607 82058607 + Missense_Mutation SNP T T A rs143281279 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:82058607T>A ENST00000395578.1 - 13 1690 c.1574A>T c.(1573-1575)tAt>tTt p.Y525F PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.Y496F|PRKG2_ENST00000264399.1_Missense_Mutation_p.Y525F|PRKG2_ENST00000545647.1_Missense_Mutation_p.Y105F Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 525 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 CATGTATACATACTTATTGTC 0.363000 18 55 0 0 1 0 0 BTC 685 broad.mit.edu 37 4 75675857 75675857 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:75675857C>G ENST00000395743.3 - 4 714 c.354G>C c.(352-354)caG>caC p.Q118H NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 118 positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) TCACCAGAATCTGTCCTCTGT 0.378000 30 75 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132063882 132063882 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr3:132063882G>C ENST00000336375.5 + 7 850 c.760G>C c.(760-762)Gag>Cag p.E254Q ACPP_ENST00000475741.1_Missense_Mutation_p.E221Q|ACPP_ENST00000351273.7_Missense_Mutation_p.E254Q NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 254 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 CAAGCAGAAAGAGAAATCTAG 0.438000 13 23 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35107450 35107450 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr21:35107450C>G ENST00000381318.3 + 5 575 c.287C>G c.(286-288)tCt>tGt p.S96C ITSN1_ENST00000399349.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399338.4_Missense_Mutation_p.S96C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S96C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S96C|ITSN1_ENST00000437442.2_Missense_Mutation_p.S96C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399353.1_Missense_Mutation_p.S96C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S96C NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 96 EH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 CAGCTACCCTCTGCACTTCCC 0.398000 15 72 0 0 1 0 0 HMGN3 9324 broad.mit.edu 37 6 79912025 79912025 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:79912025G>A ENST00000344726.5 - 5 357 c.229C>T c.(229-231)Cca>Tca p.P77S HMGN3_ENST00000275036.7_Intron NM_001201362.1|NM_001201363.1|NM_004242.3 NP_001188291.1|NP_001188292.1|NP_004233.1 Q15651 HMGN3_HUMAN high mobility group nucleosomal binding domain 3 77 chromatin modification chromatin|cytoplasm|nucleus DNA binding|thyroid hormone receptor binding central_nervous_system(1)|kidney(2)|lung(1) 4 all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393) BRCA - Breast invasive adenocarcinoma(397;0.125) TTTTCAGATGGTGCAGTACCT 0.418000 19 99 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3448490 3448490 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr17:3448490G>C ENST00000301365.4 - 3 326 c.195C>G c.(193-195)tcC>tcG p.S65S TRPV3_ENST00000572519.1_Silent_p.S65S|TRPV3_ENST00000576742.1_Silent_p.S65S Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 65 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) CCATGGGCTTGGAGAAGACAG 0.592000 6 37 0 0 1 0 0 FAM71E1 112703 broad.mit.edu 37 19 50978661 50978661 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr19:50978661A>G ENST00000600100.1 - 3 824 c.460T>C c.(460-462)Tcc>Ccc p.S154P FAM71E1_ENST00000595790.1_Missense_Mutation_p.S138P Q6IPT2 F71E1_HUMAN family with sequence similarity 71, member E1 154 breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) GCTGGACTGGAGGCTGCCACC 0.642000 3 16 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130060365 130060365 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr11:130060365C>A ENST00000278742.5 + 7 1069 c.651C>A c.(649-651)ggC>ggA p.G217G NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 217 CUB 1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GCAGCTTTGGCCTGCACGCCC 0.711000 10 94 0.00621372 0.00634183 1 1 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993392 96993392 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:96993392C>G ENST00000361124.4 + 1 1458 c.1047C>G c.(1045-1047)ctC>ctG p.L349L ITPRIPL1_ENST00000542887.1_Silent_p.L333L|ITPRIPL1_ENST00000439118.2_Silent_p.L341L|ITPRIPL1_ENST00000536814.1_Silent_p.L333L NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 341 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACTTTAAACTCAGTCTCCCAC 0.572000 14 68 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71082580 71082580 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr8:71082580T>A ENST00000452400.2 - 6 579 c.398A>T c.(397-399)gAa>gTa p.E133V NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 133 PAS. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AACGTTGCCTTCCAGGTTCAC 0.393000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 5 4 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32161047 32161047 + Splice_Site SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr22:32161047G>A ENST00000400246.1 + 5 421 c.e5+1 DEPDC5_ENST00000400248.1_Splice_Site|DEPDC5_ENST00000400242.3_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site|DEPDC5_ENST00000382112.3_Splice_Site|DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site O75140 DEPD5_HUMAN DEP domain containing 5 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AGACCCTAAGGTATGTCTTTG 0.388000 7 30 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176018456 176018456 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:176018456C>A ENST00000510636.1 + 30 3979 c.3705C>A c.(3703-3705)ctC>ctA p.L1235L CDHR2_ENST00000506348.1_Silent_p.L1235L|CDHR2_ENST00000261944.5_Silent_p.L1235L NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1235 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TGGAGTACCTCTCTCCCTCCA 0.602000 18 62 6.94344e-10 7.66618e-10 1 1 0 NCAPG2 54892 broad.mit.edu 37 7 158472660 158472660 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:158472660C>T ENST00000409339.3 - 11 1251 c.1138G>A c.(1138-1140)Gag>Aag p.E380K NCAPG2_ENST00000449727.2_Missense_Mutation_p.E380K|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E172K|NCAPG2_ENST00000409423.1_Missense_Mutation_p.E380K|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E380K Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 380 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) ACATAGAGCTCTTCAAACTGT 0.433000 10 80 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97527348 97527348 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:97527348G>A ENST00000305476.5 - 14 1772 c.1640C>T c.(1639-1641)tCa>tTa p.S547L NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 547 PSI. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GCAGATGCCTGAAGTGTCCGA 0.557000 32 102 0 0 1 0 0 MOXD1 26002 broad.mit.edu 37 6 132645203 132645203 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:132645203T>A ENST00000367963.3 - 7 1098 c.980A>T c.(979-981)tAc>tTc p.Y327F MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.Y259F NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 327 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) ATCCATTGTGTAAAATAACCT 0.398000 14 45 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19628032 19628032 + Nonsense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:19628032C>T ENST00000438132.3 + 14 1441 c.1393C>T c.(1393-1395)Cag>Tag p.Q465* C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q226*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q376*|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q125*|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000542263.1_Intron NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 376 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GGTCCAGAACCAGCTGGTGGT 0.512000 10 35 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80634736 80634736 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:80634736G>A ENST00000369816.4 - 3 602 c.302C>T c.(301-303)tCa>tTa p.S101L NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 101 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) CGCATTATATGATCCCATGAA 0.279000 6 25 0 0 1 0 0 RNASET2 8635 broad.mit.edu 37 6 167343140 167343140 + Missense_Mutation SNP C C T rs146590748 byFrequency TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:167343140C>T ENST00000366855.6 - 10 1268 c.593G>A c.(592-594)cGg>cAg p.R198Q RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Missense_Mutation_p.R236Q|RNASET2_ENST00000508775.1_Missense_Mutation_p.R236Q O00584 RNT2_HUMAN ribonuclease T2 236 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding p.R236L(1) large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) TCTCAGACCCCGGCTCTCGGC 0.542000 14 275 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83905831 83905831 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr4:83905831G>C ENST00000340417.3 - 2 544 c.167C>G c.(166-168)tCt>tGt p.S56C LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.S56C|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.S56C|LIN54_ENST00000506560.1_Missense_Mutation_p.S56C|LIN54_ENST00000505397.1_Missense_Mutation_p.S56C NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 56 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.S56C(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) CGTGGCTGTAGAGTCACCAGT 0.408000 10 52 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155538268 155538268 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:155538268A>T ENST00000401878.3 + 14 3149 c.2951A>T c.(2950-2952)aAg>aTg p.K984M NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 984 nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) ATCAGCTCCAAGGTCAGGGTG 0.522000 4 12 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61510333 61510333 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:61510333C>A ENST00000398571.2 - 37 5021 c.4945G>T c.(4945-4947)Gat>Tat p.D1649Y NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1649 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.D1649H(1) autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TGATCGCTATCAGCAAGGCTA 0.338000 4 24 1.024e-07 1.09399e-07 1 1 0 ARID1A 8289 broad.mit.edu 37 1 27099905 27099905 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:27099905C>T ENST00000324856.7 + 15 4155 c.3784C>T c.(3784-3786)Cgt>Tgt p.R1262C ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C|ARID1A_ENST00000540690.1_5'UTR NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1262 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCCTACAGTCGTGCTGCCGG 0.592000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 6 46 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752053 247752053 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:247752053G>A ENST00000320065.1 + 1 392 c.392G>A c.(391-393)cGt>cAt p.R131H RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R131H(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GCTGTCTGCCGTCCTCTCCAT 0.552000 21 131 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213921699 213921699 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:213921699G>A ENST00000457361.1 - 4 432 c.264C>T c.(262-264)agC>agT p.S88S IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000374319.4_Silent_p.S88S|IKZF2_ENST00000434687.1_Silent_p.S88S|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000421754.2_Silent_p.S88S|IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000413091.3_Silent_p.S88S NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CAGCCACCTCGCTGCTCTCAA 0.527000 14 62 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30792496 30792496 + Silent SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr12:30792496A>G ENST00000256079.4 - 21 2780 c.2442T>C c.(2440-2442)acT>acC p.T814T IPO8_ENST00000544829.1_Silent_p.T609T NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 814 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TAAACTGTACAGTGATAGGTC 0.383000 18 47 0 0 1 0 0 FRMD1 79981 broad.mit.edu 37 6 168475980 168475980 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr6:168475980C>T ENST00000283309.6 - 2 313 c.249G>A c.(247-249)gtG>gtA p.V83V FRMD1_ENST00000440994.2_Silent_p.V15V NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 83 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCACGTTGCACACTTGCTGGA 0.632000 13 89 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766863 57766863 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr20:57766863C>G ENST00000371030.2 + 1 789 c.789C>G c.(787-789)acC>acG p.T263T NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 263 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ATGTGAGGACCGAAGCTGCTC 0.657000 17 62 0 0 1 0 0 LPCAT1 79888 broad.mit.edu 37 5 1463913 1463913 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:1463913G>A ENST00000283415.3 - 14 1590 c.1458C>T c.(1456-1458)ttC>ttT p.F486F LPCAT1_ENST00000503252.1_5'UTR NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 486 EF-hand 2. phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding p.F486F(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) ATTCCTCTGCGAAGGCAGGGT 0.527000 24 135 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162302876 162302876 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:162302876C>A ENST00000361897.5 + 5 816 c.414C>A c.(412-414)agC>agA p.S138R NOS1AP_ENST00000530878.1_Missense_Mutation_p.S133R NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 138 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) ATGGTGCCAGCAATATCTTCA 0.433000 6 30 0.0215528 0.021847 1 1 0 UGGT2 55757 broad.mit.edu 37 13 96505887 96505887 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr13:96505887C>G ENST00000376747.3 - 36 4264 c.4194G>C c.(4192-4194)aaG>aaC p.K1398N NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1398 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TCCTGAACTTCTTGAGATCCA 0.388000 6 12 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22850916 22850916 + Silent SNP C C T rs139786086 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:22850916C>T ENST00000404138.1 + 18 4015 c.3504C>T c.(3502-3504)gcC>gcT p.A1168A ZBTB40_ENST00000375647.4_Silent_p.A1168A|ZBTB40_ENST00000374651.4_Silent_p.A1056A NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 1168 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) AAACCCAGGCCGCAGCCTCAC 0.552000 23 42 0 0 1 0 0 SSX6 280657 broad.mit.edu 37 X 47972622 47972622 + Silent SNP G G A rs138080210 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chrX:47972622G>A ENST00000319275.3 + 5 399 c.33G>A c.(31-33)ccG>ccA p.P11P SSX6_ENST00000376932.2_Silent_p.P109P large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 GAATCATCCCGAAGGTGAGTA 0.423000 22 54 0 0 1 0 0 KLHL30 377007 broad.mit.edu 37 2 239049882 239049882 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr2:239049882G>C ENST00000409223.1 + 2 594 c.487G>C c.(487-489)Gag>Cag p.E163Q KLHL30_ENST00000305959.4_Missense_Mutation_p.E145Q Q0D2K2 KLH30_HUMAN kelch-like family member 30 163 BACK. lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) AGAGAACTTTGAGGCTGTGGC 0.652000 5 22 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12154831 12154831 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr19:12154831G>T ENST00000602107.1 - 5 1525 c.1526C>A c.(1525-1527)tCt>tAt p.S509Y CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S462Y|CTD-2006C1.10_ENST00000547473.1_Intron C9JN71 ZN878_HUMAN zinc finger protein 878 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AGAATTAGAAGAAATGAAGGC 0.388000 5 25 0.014758 0.0150107 1 1 0 TOP1MT 116447 broad.mit.edu 37 8 144398195 144398195 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr8:144398195T>C ENST00000523676.1 - 12 1543 c.1138A>G c.(1138-1140)Aag>Gag p.K380E TOP1MT_ENST00000329245.4_Missense_Mutation_p.K478E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K380E Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 478 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TGCATCGACTTCTCGAACGTA 0.607000 17 143 0 0 1 0 0 ZNF396 252884 broad.mit.edu 37 18 32949319 32949319 + Nonsense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr18:32949319G>A ENST00000306346.1 - 4 999 c.868C>T c.(868-870)Cga>Tga p.R290* ZNF396_ENST00000589332.1_Nonsense_Mutation_p.R290* NM_145756.2 NP_665699.1 Q96N95 ZN396_HUMAN zinc finger protein 396 290 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 7 ATTGCGCTTCGGCTGAATGCC 0.448000 10 32 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3002435 3002435 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chrX:3002435G>C ENST00000381127.1 + 6 779 c.558G>C c.(556-558)gaG>gaC p.E186D ARSF_ENST00000359361.2_Missense_Mutation_p.E186D|ARSF_ENST00000537104.1_Missense_Mutation_p.E186D NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 186 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TAGCCTTTGAGAGTCAGCTCT 0.527000 12 65 0 0 1 0 0 GPATCH3 63906 broad.mit.edu 37 1 27226714 27226714 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:27226714C>T ENST00000361720.5 - 1 243 c.220G>A c.(220-222)Gag>Aag p.E74K NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 74 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) AGCTGGCCCTCAGCGGCTGGG 0.642000 18 66 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64675494 64675494 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr14:64675494G>A ENST00000357395.3 + 102 18519 c.7375G>A c.(7375-7377)Gaa>Aaa p.E2459K SYNE2_ENST00000394768.2_Missense_Mutation_p.E2459K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6074K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2708K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6036K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6074K|SYNE2_ENST00000555022.1_5'UTR|ESR2_ENST00000542956.1_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6074 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GCGAGATATTGAACAACACAG 0.517000 15 40 0 0 1 0 0 TUBB1 81027 broad.mit.edu 37 20 57599431 57599431 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr20:57599431T>C ENST00000217133.1 + 4 1218 c.949T>C c.(949-951)Ttc>Ctc p.F317L NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 317 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) GGCCTGCATTTTCCGGGGCAA 0.597000 5 54 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107707040 107707040 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:107707040G>C ENST00000388781.3 - 20 2535 c.2452C>G c.(2452-2454)Cac>Gac p.H818D LAMB4_ENST00000388780.3_Missense_Mutation_p.H818D|LAMB4_ENST00000205386.4_Missense_Mutation_p.H818D NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 818 Laminin EGF-like 7. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GGATGGCAGTGACATGCTGGA 0.527000 3 16 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75055746 75055746 + Nonsense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:75055746G>T ENST00000326665.5 - 12 1963 c.1745C>A c.(1744-1746)tCa>tAa p.S582* RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S385* NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 582 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GGATGAGGTTGATGAAGCAGT 0.383000 9 11 1.12685e-05 1.18201e-05 1 1 0 PCDH18 54510 broad.mit.edu 37 4 138451204 138451204 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:138451204G>A ENST00000344876.4 - 1 2425 c.2039C>T c.(2038-2040)gCa>gTa p.A680V PCDH18_ENST00000412923.2_Missense_Mutation_p.A680V|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460V NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 680 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CACCGACTCTGCATATTCAAA 0.428000 31 104 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145360584 145360584 + Missense_Mutation SNP G G A rs78186669 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:145360584G>A ENST00000342960.5 + 74 9244 c.9209G>A c.(9208-9210)gGg>gAg p.G3070E NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3070 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GATGAGAAAGGGCCTGAAGTC 0.483000 3 17 0 0 1 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42891917 42891917 + Missense_Mutation SNP G G A rs111998272 byFrequency TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr20:42891917G>A ENST00000342560.5 + 4 683 c.595G>A c.(595-597)Gag>Aag p.E199K GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E7K NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 199 GST C-terminal. endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGACCATGAAGAGGAGCCCCA 0.552000 13 257 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22389445 22389445 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:22389445G>C ENST00000334304.5 - 19 4118 c.3849C>G c.(3847-3849)ctC>ctG p.L1283L GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1283 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TGGCCAAGTTGAGGCCATAAG 0.433000 7 45 0 0 1 0 0 TMEM180 79847 broad.mit.edu 37 10 104233349 104233349 + Silent SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr10:104233349T>C ENST00000238936.4 + 8 1185 c.948T>C c.(946-948)caT>caC p.H316H TMEM180_ENST00000366277.2_Silent_p.H45H NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 316 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TCGCTCCCCATCTCAACAACC 0.632000 38 148 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255478 16255478 + Nonsense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:16255478C>T ENST00000375759.3 + 11 2947 c.2743C>T c.(2743-2745)Cag>Tag p.Q915* NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 915 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGCCCTGGACCAGAAACTTCA 0.443000 16 229 0 0 1 0 0 EGFL8 80864 broad.mit.edu 37 6 32134035 32134035 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:32134035C>T ENST00000395512.1 + 2 198 c.93C>T c.(91-93)ctC>ctT p.L31L EGFL8_ENST00000333845.6_Silent_p.L31L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2-EGFL8_ENST00000422437.1_Intron Q99944 EGFL8_HUMAN EGF-like-domain, multiple 8 31 extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 GTGGATCCCTCAGAGAGAGGT 0.592000 7 38 0 0 1 0 0 KPNA4 3840 broad.mit.edu 37 3 160245808 160245808 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr3:160245808C>G ENST00000334256.4 - 8 794 c.489G>C c.(487-489)ctG>ctC p.L163L NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 163 NLS binding site (major) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) GGAGAAGCCTCAGGAAAAGTG 0.358000 10 28 0 0 1 0 0 PYGO1 26108 broad.mit.edu 37 15 55838669 55838669 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:55838669A>G ENST00000302000.6 - 3 906 c.812T>C c.(811-813)aTt>aCt p.I271T PYGO1_ENST00000563719.1_Missense_Mutation_p.I271T NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 271 Asn-rich. Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) TTTTAATTCAATATTACTCTG 0.383000 24 80 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838251 100838251 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:100838251T>C ENST00000369208.3 - 12 3069 c.2287A>G c.(2287-2289)Acc>Gcc p.T763A SIM1_ENST00000262901.4_Missense_Mutation_p.T763A P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 763 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CTTCCGTTGGTTATTATAACA 0.393000 17 56 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22855171 22855171 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:22855171G>T ENST00000283645.4 + 13 1762 c.1632G>T c.(1630-1632)agG>agT p.R544S TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R544S NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 544 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CCTCCAGCAGGCAGCACACCA 0.502000 19 48 1.33834e-09 1.47611e-09 1 1 0 ABCA7 10347 broad.mit.edu 37 19 1053787 1053787 + Splice_Site SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr19:1053787A>T ENST00000263094.6 + 25 3655 c.3423_splice c.e25-1 p.I1142_splice ABCA7_ENST00000435683.2_Splice_Site_p.I1004_splice|ABCA7_ENST00000433129.1_Splice_Site_p.I1142_splice NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1142 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCTCCCCAGATCTTCCTGAA 0.642000 25 57 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138433375 138433375 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr3:138433375T>C ENST00000477593.1 - 8 1310 c.1237A>G c.(1237-1239)Acg>Gcg p.T413A PIK3CB_ENST00000289153.2_Missense_Mutation_p.T413A P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 413 C2 PI3K-type. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GATTTCTTCGTTTTTACTTTA 0.318000 4 18 0 0 1 0 0 CXorf66 347487 broad.mit.edu 37 X 139038258 139038258 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chrX:139038258G>T ENST00000370540.1 - 3 906 c.883C>A c.(883-885)Caa>Aaa p.Q295K NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 295 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 TGTAGGTTTTGAGTGTTTTTC 0.388000 33 59 2.80507e-11 3.16361e-11 1 1 0 VPS13D 55187 broad.mit.edu 37 1 12316413 12316413 + Missense_Mutation SNP G G C rs148067811 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:12316413G>C ENST00000358136.3 + 8 823 c.693G>C c.(691-693)gaG>gaC p.E231D VPS13D_ENST00000356315.4_Missense_Mutation_p.E231D NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 231 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGAGCATGGAGAGTCGCAGCC 0.537000 17 156 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39885673 39885673 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:39885673G>C ENST00000260356.5 + 19 3236 c.3071G>C c.(3070-3072)gGa>gCa p.G1024A NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1024 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GACTATGCTGGATTTGTCTTT 0.517000 19 171 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73850106 73850106 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr8:73850106G>A ENST00000523207.1 + 3 3104 c.2516G>A c.(2515-2517)aGt>aAt p.S839N NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 839 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GATAAGCCTAGTGATGGGAGA 0.522000 39 58 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186980391 186980391 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr3:186980391G>A ENST00000337774.5 - 3 744 c.355C>T c.(355-357)Cgg>Tgg p.R119W MASP1_ENST00000392472.2_Missense_Mutation_p.R6W|MASP1_ENST00000169293.6_Missense_Mutation_p.R119W|MASP1_ENST00000392470.2_Missense_Mutation_p.R93W|MASP1_ENST00000296280.6_Missense_Mutation_p.R119W|MASP1_ENST00000495249.1_Intron NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 119 CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) AAATCTGACCGGAAAGTGATG 0.557000 15 63 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76422537 76422537 + Nonsense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr17:76422537C>A ENST00000600087.1 + 1 129 c.129C>A c.(127-129)taC>taA p.Y43* DNAH17_ENST00000586052.1_Splice_Site|DNAH17_ENST00000585328.1_Splice_Site|DNAH17_ENST00000389840.5_Splice_Site ACGGCACTTACCCTGATGCGG 0.632000 15 7 1.05317e-09 1.16587e-09 1 1 0 ITGAL 3683 broad.mit.edu 37 16 30528404 30528404 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:30528404G>T ENST00000356798.6 + 26 3153 c.2973G>T c.(2971-2973)caG>caT p.Q991H ITGAL_ENST00000358164.5_Missense_Mutation_p.Q907H|ITGAL_ENST00000433423.2_Missense_Mutation_p.Q225H NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 991 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GGAGCGTGCAGATGGTGAGTG 0.632000 32 99 3.69857e-22 4.33426e-22 1 1 0 BMP5 653 broad.mit.edu 37 6 55739531 55739531 + Missense_Mutation SNP T T G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:55739531T>G ENST00000370830.3 - 1 831 c.133A>C c.(133-135)Aac>Cac p.N45H BMP5_ENST00000446683.2_Missense_Mutation_p.N45H NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 45 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CTTTCGTGGTTCCGTAGTCTT 0.463000 24 68 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169938300 169938300 + Translation_Start_Site SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:169938300A>T ENST00000421653.1 + 0 293 DHRS9_ENST00000412271.1_Missense_Mutation_p.K70M|DHRS9_ENST00000357546.2_Missense_Mutation_p.K70M|DHRS9_ENST00000428522.1_Missense_Mutation_p.K70M|DHRS9_ENST00000327239.4_Missense_Mutation_p.K70M|DHRS9_ENST00000602501.1_Missense_Mutation_p.K70M|DHRS9_ENST00000436483.2_Missense_Mutation_p.K70M|DHRS9_ENST00000432060.2_Missense_Mutation_p.K130M Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 ACAGCTTTAAAGGCAGAAACC 0.483000 21 51 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1159315 1159315 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:1159315C>T ENST00000356191.2 + 16 1283 c.1283C>T c.(1282-1284)cCg>cTg p.P428L mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GTTCCATGCCCGGGTACCTGC 0.637000 4 42 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69279634 69279634 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr12:69279634G>C ENST00000551568.1 - 3 256 c.196C>G c.(196-198)Cca>Gca p.P66A CPM_ENST00000338356.3_Missense_Mutation_p.P66A|CPM_ENST00000546373.1_Missense_Mutation_p.P66A NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 66 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TGTTCCTTTGGAAACCGCCCC 0.408000 11 44 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117815131 117815131 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chrX:117815131G>C ENST00000276204.6 + 50 5856 c.5782G>C c.(5782-5784)Gag>Cag p.E1928Q DOCK11_ENST00000276202.7_Missense_Mutation_p.E1928Q Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1928 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TAAAACTGCAGAGCTGCAAAA 0.403000 18 37 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160067536 160067536 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:160067536C>T ENST00000327245.5 - 10 1778 c.932G>A c.(931-933)cGg>cAg p.R311Q NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 311 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATTCATGCGCCGCTCAATCTT 0.478000 26 98 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825504 4825504 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:4825504G>T ENST00000380382.1 - 1 343 c.344C>A c.(343-345)gCc>gAc p.A115D MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36D Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCATACGTGGCACAGAACGG 0.512000 6 20 0.00307968 0.00316405 1 1 0 TRAPPC9 83696 broad.mit.edu 37 8 141263009 141263009 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr8:141263009G>A ENST00000389328.4 - 16 2606 c.2592C>T c.(2590-2592)ttC>ttT p.F864F TRAPPC9_ENST00000389327.3_Silent_p.F757F|TRAPPC9_ENST00000438773.2_Silent_p.F766F NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 766 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TCCAGCTCAAGAAGTCGCCAT 0.448000 8 51 0 0 1 0 0 C16orf72 29035 broad.mit.edu 37 16 9186809 9186809 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:9186809C>G ENST00000327827.7 + 2 655 c.258C>G c.(256-258)ctC>ctG p.L86L NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 86 endometrium(4)|large_intestine(2)|lung(2) 8 GACTTTCTCTCTGGGTCCCCT 0.463000 4 12 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123508372 123508372 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:123508372A>T ENST00000223026.4 + 3 683 c.45A>T c.(43-45)caA>caT p.Q15H HYAL4_ENST00000476325.1_Missense_Mutation_p.Q15H NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 15 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 GTGTTGTTCAACCAGTACATC 0.343000 10 37 0 0 1 0 0 DEF6 50619 broad.mit.edu 37 6 35280093 35280093 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:35280093G>A ENST00000316637.5 + 4 443 c.438G>A c.(436-438)ctG>ctA p.L146L DEF6_ENST00000542066.1_Intron NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 146 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 AATACCTGCTGAAAAAGGTAC 0.612000 20 48 0 0 1 0 0 STK17B 9262 broad.mit.edu 37 2 197004523 197004523 + Splice_Site SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:197004523C>G ENST00000263955.4 - 7 943 c.656_splice c.e7-1 p.W219_splice STK17B_ENST00000409228.1_Splice_Site_p.W219_splice NM_004226.3 NP_004217.1 O94768 ST17B_HUMAN serine/threonine kinase 17b 219 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10) 15 OV - Ovarian serous cystadenocarcinoma(117;0.141) TACCAATATTCCTGAAAAACA 0.313000 4 27 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87033303 87033303 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:87033303C>T ENST00000370563.3 + 7 1193 c.1151C>T c.(1150-1152)tCc>tTc p.S384F CLCA4_ENST00000263723.5_Missense_Mutation_p.S97F NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 384 VWFA. apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GGAGGAACTTCCATCTGCTCT 0.353000 9 21 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131916134 131916134 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr8:131916134C>T ENST00000286355.5 - 7 3887 c.1795G>A c.(1795-1797)Gaa>Aaa p.E599K ADCY8_ENST00000377928.3_Missense_Mutation_p.E599K NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 599 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) ACGATATCTTCAGGCAAGGAC 0.478000 HNSCC(32;0.087) 10 84 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48753913 48753913 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr17:48753913C>A ENST00000285238.8 + 23 3422 c.3342C>A c.(3340-3342)gtC>gtA p.V1114V NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1114 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCACTGTGGTCATCCTGCCCC 0.592000 41 82 4.32679e-17 5.01173e-17 1 1 0 NIPAL1 152519 broad.mit.edu 37 4 48037979 48037979 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:48037979G>C ENST00000295461.5 + 6 1089 c.1023G>C c.(1021-1023)ctG>ctC p.L341L NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 341 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 TTGGGACCCTGAGTGGATTCT 0.398000 13 38 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86312712 86312712 + Silent SNP G G A rs145878071 by1000genomes TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:86312712G>A ENST00000337975.5 - 2 604 c.330C>T c.(328-330)atC>atT p.I110I KLHL25_ENST00000536947.1_Silent_p.I110I|KLHL25_ENST00000559131.1_Intron NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 110 BTB. cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 CGTTGATGGCGATGCGTGAGG 0.607000 23 51 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040883 147040883 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:147040883C>A ENST00000265272.5 - 3 722 c.255G>T c.(253-255)ctG>ctT p.L85L JAKMIP2_ENST00000507386.1_Silent_p.L85L|JAKMIP2_ENST00000333010.6_Silent_p.L43L NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 85 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACAGCCTGCAGCTCCTTCA 0.537000 42 143 6.2361e-21 7.2795e-21 1 1 0 ADRBK1 156 broad.mit.edu 37 11 67051382 67051382 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:67051382A>T ENST00000308595.5 + 17 1743 c.1453A>T c.(1453-1455)Att>Ttt p.I485F ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 485 AGC-kinase C-terminal. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) CGCCTTCGACATTGGCTCCTT 0.622000 9 10 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113860273 113860273 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:113860273C>A ENST00000504030.2 + 9 1670 c.1225C>A c.(1225-1227)Cgg>Agg p.R409R HTR3A_ENST00000299961.5_Silent_p.R394R|HTR3A_ENST00000506841.2_Silent_p.R441R|HTR3A_ENST00000355556.2_Silent_p.R447R|HTR3A_ENST00000535865.1_Silent_p.R153R|HTR3A_ENST00000375498.2_Silent_p.R415R P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 409 R -> Q. digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CCCACCACCTCGGGAGGCCTC 0.637000 87 61 2.96794e-49 3.50544e-49 1 1 0 AP4M1 9179 broad.mit.edu 37 7 99699579 99699579 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:99699579C>A ENST00000429084.1 + 2 293 c.135C>A c.(133-135)tcC>tcA p.S45S AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000421755.1_Silent_p.S45S|AP4M1_ENST00000359593.4_Silent_p.S45S O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 45 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGACGAGTCCCCGGTTGTCA 0.682000 12 47 4.36969e-10 4.87326e-10 1 1 0 EEF1A1 1915 broad.mit.edu 37 6 74228666 74228666 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:74228666G>C ENST00000316292.9 - 3 1601 c.610C>G c.(610-612)Cca>Gca p.P204A EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P204A|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P204A NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 204 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 TTAGCACTTGGCTCCAGCATG 0.428000 OREG0003891 type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 11 36 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56230395 56230395 + Silent SNP A A G rs145912919 byFrequency TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:56230395A>G ENST00000279791.1 - 1 482 c.483T>C c.(481-483)acT>acC p.T161T NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) ATAAGCCATAAGTCCATAGTG 0.428000 17 49 0 0 1 0 0 RAB33B 83452 broad.mit.edu 37 4 140393939 140393939 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:140393939A>G ENST00000305626.5 + 2 738 c.349A>G c.(349-351)Acc>Gcc p.T117A NM_031296.1 NP_112586.1 Q9H082 RB33B_HUMAN RAB33B, member RAS oncogene family 117 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_hematologic(180;0.162) GTATGATATGACCAACATGGC 0.408000 15 32 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716543 142716543 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chrX:142716543C>T ENST00000381779.4 - 2 2607 c.2382G>A c.(2380-2382)ctG>ctA p.L794L SLITRK4_ENST00000356928.1_Silent_p.L794L|SLITRK4_ENST00000338017.4_Silent_p.L794L NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 794 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TGCCACCTATCAGTGACTTCT 0.408000 12 77 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142513633 142513633 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:142513633C>G ENST00000378004.3 + 19 2155 c.1800C>G c.(1798-1800)ccC>ccG p.P600P ARHGAP26_ENST00000274498.4_Silent_p.P600P NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 600 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCGAGAGGCCCCTGACGCTCT 0.577000 26 93 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915214 119915214 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:119915214G>C ENST00000331113.4 + 1 1493 c.528G>C c.(526-528)gaG>gaC p.E176D NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 176 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGGCCTTCGAGAACCCCCACA 0.617000 16 38 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234944 21234944 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:21234944C>T ENST00000233242.1 - 26 4923 c.4796G>A c.(4795-4797)cGt>cAt p.R1599H NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1599 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.R1599H(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATATTCAGAACGCAGCAGTGC 0.413000 7 40 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222600 27222600 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:27222600T>A ENST00000230582.3 + 10 1294 c.1279T>A c.(1279-1281)Tcc>Acc p.S427T PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.S170T NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 427 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TCAGACGAACTCCTACTACGG 0.567000 24 88 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122387299 122387299 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chrX:122387299C>A ENST00000264357.5 + 3 706 c.414C>A c.(412-414)gtC>gtA p.V138V GRIA3_ENST00000542149.1_Silent_p.V138V|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Silent_p.V122V|GRIA3_ENST00000371256.5_Silent_p.V138V|GRIA3_ENST00000371251.1_Silent_p.V138V NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 138 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) TGCAGTTTGTCATCCAGATGC 0.512000 21 116 0.000132079 0.000137582 1 1 0 TTF2 8458 broad.mit.edu 37 1 117619276 117619276 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:117619276G>C ENST00000369466.3 + 7 1448 c.1404G>C c.(1402-1404)aaG>aaC p.K468N NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 468 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CTAATGAGAAGAGTAACAGTC 0.507000 9 78 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 3 21 0 0 1 0 0 SMTN 6525 broad.mit.edu 37 22 31500330 31500330 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr22:31500330G>A ENST00000358743.1 + 21 2919 c.2701G>A c.(2701-2703)Gag>Aag p.E901K SMTN_ENST00000347557.2_Missense_Mutation_p.E878K|SMTN_ENST00000333137.7_3'UTR|SMTN_ENST00000404574.1_3'UTR|RP3-412A9.10_ENST00000504335.1_RNA NM_134270.2 NP_599032.2 P53814 SMTN_HUMAN smoothelin 878 CH. muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GCCCCTGGTGGAGGTGGACGA 0.627000 12 86 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97531481 97531481 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:97531481G>A ENST00000305476.5 - 5 474 c.342C>T c.(340-342)atC>atT p.I114I NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 114 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GCAGGAAGCGGATGAAGTTGA 0.612000 6 40 0 0 1 0 0 C14orf79 122616 broad.mit.edu 37 14 105452973 105452973 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr14:105452973C>G ENST00000547315.1 + 1 844 c.205C>G c.(205-207)Cct>Gct p.P69A NM_174891.3 NP_777551.2 Q96F83 CN079_HUMAN chromosome 14 open reading frame 79 69 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) TGCCCGATGTCCTGACCCTGG 0.582000 19 49 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64813997 64813997 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr12:64813997G>T ENST00000332707.5 + 7 1166 c.637G>T c.(637-639)Gtc>Ttc p.V213F NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 213 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TGGGGCTTATGTCTCTTGGAT 0.333000 12 39 7.03913e-09 7.67905e-09 1 1 0 RIPK3 11035 broad.mit.edu 37 14 24806948 24806948 + Nonsense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr14:24806948C>A ENST00000216274.5 - 7 1071 c.853G>T c.(853-855)Gaa>Taa p.E285* NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 285 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) TGGAAGACTTCATCAGTTTTT 0.527000 4 18 0.184627 0.185245 1 1 0 TOPORS 10210 broad.mit.edu 37 9 32542610 32542610 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr9:32542610C>G ENST00000360538.2 - 3 2029 c.1913G>C c.(1912-1914)aGa>aCa p.R638T TOPORS_ENST00000379858.1_Missense_Mutation_p.R573T NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 638 Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TCTTCTCCCTCTAGGTCTGCT 0.423000 31 93 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27132839 27132839 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr12:27132839C>T ENST00000343028.4 - 9 1292 c.1067G>A c.(1066-1068)aGc>aAc p.S356N TM7SF3_ENST00000542667.1_5'UTR NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 356 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) TCCACCGACGCTTCCAGTGAC 0.502000 11 36 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34610823 34610823 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:34610823C>A ENST00000290209.5 - 1 157 c.57G>T c.(55-57)tcG>tcT p.S19S SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000354181.3_Intron|SLC12A6_ENST00000560611.1_Intron|SLC12A6_ENST00000558589.1_Intron|SLC12A6_ENST00000558667.1_Intron NM_005135.2 NP_005126.1 Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 72 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CTTGAGAGATCGAAGCCGCTG 0.428000 11 39 6.42651e-13 7.3586e-13 1 1 0 SPDYE3 441272 broad.mit.edu 37 7 99912207 99912207 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:99912207G>T ENST00000332397.6 + 6 1219 c.1035G>T c.(1033-1035)aaG>aaT p.K345N SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 345 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GCAAAAGGAAGAGGGAGTGTT 0.577000 14 28 3.51602e-12 3.99547e-12 1 1 0 WHAMMP3 339005 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 3 8 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83129133 83129133 + Missense_Mutation SNP A A C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chrX:83129133A>C ENST00000329312.4 + 4 1454 c.1417A>C c.(1417-1419)Aaa>Caa p.K473Q NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 473 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity 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 GAAAGATGACAAAAAGAAGGA 0.358000 3 12 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121612621 121612621 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:121612621C>A ENST00000393386.2 + 4 742 c.331C>A c.(331-333)Cgt>Agt p.R111S PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R111S NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 111 Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TAATGACTACCGTGTCAGCGG 0.333000 12 29 2.27111e-07 2.41607e-07 1 1 0 COL22A1 169044 broad.mit.edu 37 8 139601678 139601678 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr8:139601678G>C ENST00000303045.6 - 65 5145 c.4699C>G c.(4699-4701)Ccc>Gcc p.P1567A COL22A1_ENST00000435777.1_Missense_Mutation_p.P1547A|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1567 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGTTCCCCGGGTTGACCTGGC 0.577000 HNSCC(7;0.00092) 3 15 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44976017 44976017 + Silent SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr14:44976017A>T ENST00000340446.4 - 1 465 c.174T>A c.(172-174)acT>acA p.T58T NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 58 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TCTTTGTCCAAGTTTGCTGAA 0.423000 16 73 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17942116 17942116 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr19:17942116C>G ENST00000458235.1 - 21 2998 c.2899G>C c.(2899-2901)Gac>Cac p.D967H JAK3_ENST00000534444.1_Missense_Mutation_p.D967H|JAK3_ENST00000527670.1_Missense_Mutation_p.D967H NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 967 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 AGGCCGAAGTCAGCGATCTTG 0.657000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 26 130 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39798666 39798666 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:39798666C>T ENST00000564288.1 + 37 7183 c.6406C>T c.(6406-6408)Cct>Tct p.P2136S MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2173S|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P576S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P2141S Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2141 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) GACCATACCTCCTGCTGAGGC 0.463000 21 26 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409906 79409906 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr17:79409906C>T ENST00000307745.7 + 9 1531 c.1531C>T c.(1531-1533)Ccg>Tcg p.P511S TCACCAGGACCCGCTGGGCGG 0.657000 6 32 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5932699 5932699 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr20:5932699G>A ENST00000378896.3 + 2 415 c.38G>A c.(37-39)gGa>gAa p.G13E MCM8_ENST00000378883.1_Missense_Mutation_p.G13E|MCM8_ENST00000265187.4_Missense_Mutation_p.G13E|MCM8_ENST00000378886.2_Missense_Mutation_p.G13E NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 13 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 TTTGGACGAGGAAGATTTCAA 0.403000 11 39 0 0 1 0 0 FASTKD3 79072 broad.mit.edu 37 5 7861342 7861342 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:7861342A>G ENST00000264669.5 - 6 1940 c.1804T>C c.(1804-1806)Tgc>Cgc p.C602R MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 602 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTATTGGAGCAAAACCTTTTT 0.299000 12 48 0 0 1 0 0 ESRP2 80004 broad.mit.edu 37 16 68269783 68269783 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:68269783C>G ENST00000473183.2 - 1 704 c.166G>C c.(166-168)Gtt>Ctt p.V56L ESRP2_ENST00000565858.1_Missense_Mutation_p.V56L Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 56 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 ACTTGCCAAACTAGGAGGATT 0.682000 3 16 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115806327 115806327 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr9:115806327G>C ENST00000374227.3 - 4 598 c.571C>G c.(571-573)Cct>Gct p.P191A ZFP37_ENST00000555206.1_Missense_Mutation_p.P192A|ZFP37_ENST00000553380.1_Missense_Mutation_p.P206A Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 191 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GAGTGATCAGGTAAATCTAAA 0.313000 13 22 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116632226 116632226 + Missense_Mutation SNP G G C rs61758125 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr8:116632226G>C ENST00000395715.3 - 3 676 c.99C>G c.(97-99)atC>atG p.I33M TRPS1_ENST00000519674.1_Missense_Mutation_p.I20M|TRPS1_ENST00000220888.5_Missense_Mutation_p.I20M|TRPS1_ENST00000519076.1_Missense_Mutation_p.I20M|TRPS1_ENST00000520276.1_Missense_Mutation_p.I24M NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 20 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 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) TAGGCTCCAGGATCTGGCCCT 0.448000 Langer-Giedion syndrome 26 58 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42557000 42557000 + Missense_Mutation SNP A A C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:42557000A>C ENST00000318522.5 + 23 2861 c.2599A>C c.(2599-2601)Aag>Cag p.K867Q EML4_ENST00000453191.2_Missense_Mutation_p.K131Q|EML4_ENST00000402711.2_Missense_Mutation_p.K809Q|EML4_ENST00000401738.3_Missense_Mutation_p.K878Q NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 867 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 ACTTGTGGAAAAGTTATCTTT 0.443000 T ALK NSCLC 32 77 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50271897 50271897 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:50271897C>G ENST00000284509.6 - 12 1092 c.951G>C c.(949-951)aaG>aaC p.K317N ATP8B4_ENST00000559829.1_Missense_Mutation_p.K317N|ATP8B4_ENST00000558959.1_5'UTR NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 317 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACACAGAGCTCTTCTCTCCTT 0.368000 12 50 0 0 1 0 0 CES2 8824 broad.mit.edu 37 16 66973251 66973251 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:66973251C>G ENST00000317091.4 + 3 1589 c.605C>G c.(604-606)tCt>tGt p.S202C CES2_ENST00000417689.1_Missense_Mutation_p.S202C NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 138 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CATGAAGGCTCTAACCTGCCG 0.537000 22 67 0 0 1 0 0 COQ7 10229 broad.mit.edu 37 16 19087047 19087047 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:19087047G>A ENST00000321998.5 + 4 438 c.372G>A c.(370-372)gcG>gcA p.A124A COQ7_ENST00000569127.1_Silent_p.A101A|COQ7_ENST00000568985.1_Silent_p.A124A|COQ7_ENST00000544894.2_Silent_p.A86A NM_016138.4 NP_057222.2 Q99807 COQ7_HUMAN coenzyme Q7 homolog, ubiquinone (yeast) 124 2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1) 10 TCCCAGGGGCGGGGACCGCCT 0.557000 16 51 0 0 1 0 0 ASB16 92591 broad.mit.edu 37 17 42248181 42248181 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr17:42248181C>T ENST00000293414.1 + 1 108 c.24C>T c.(22-24)ttC>ttT p.F8F NM_080863.4 NP_543139.4 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box containing 16 8 intracellular signal transduction protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) CCTTCCCCTTCACCTCCTCCA 0.687000 29 41 0 0 1 0 0 VPS51 738 broad.mit.edu 37 11 64876853 64876853 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:64876853G>A ENST00000279281.3 + 6 1637 c.1545G>A c.(1543-1545)aaG>aaA p.K515K VPS51_ENST00000527646.1_3'UTR NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) CTGGGGAGAAGGGGGGTGCCA 0.622000 28 38 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37518252 37518252 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr9:37518252C>T ENST00000432825.2 - 9 2432 c.2384G>A c.(2383-2385)cGg>cAg p.R795Q RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.R320Q NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 795 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) ACCATTGCCCCGGAGCTCCAC 0.582000 10 25 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451205 138451205 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:138451205C>T ENST00000344876.4 - 1 2424 c.2038G>A c.(2038-2040)Gca>Aca p.A680T PCDH18_ENST00000412923.2_Missense_Mutation_p.A680T|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460T NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 680 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ACCGACTCTGCATATTCAAAG 0.423000 31 104 0 0 1 0 0 WARS2 10352 broad.mit.edu 37 1 119575787 119575787 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:119575787G>A ENST00000235521.4 - 6 856 c.830C>T c.(829-831)gCg>gTg p.A277V WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A183V NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 277 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) GGCATGCACCGCCACTATGTT 0.637000 13 58 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146276246 146276246 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:146276246C>T ENST00000367503.3 - 2 611 c.213G>A c.(211-213)aaG>aaA p.K71K SHPRH_ENST00000438092.2_Silent_p.K71K|SHPRH_ENST00000367505.2_Silent_p.K71K|SHPRH_ENST00000275233.7_Silent_p.K71K NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 71 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TTGAACACCTCTTCTTATCTC 0.388000 8 64 0 0 1 0 0 ALKBH8 91801 broad.mit.edu 37 11 107427549 107427549 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:107427549C>G ENST00000428149.2 - 3 461 c.310G>C c.(310-312)Gaa>Caa p.E104Q ALKBH8_ENST00000389568.3_Missense_Mutation_p.E104Q|ALKBH8_ENST00000429370.1_Missense_Mutation_p.E104Q|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000417449.2_Missense_Mutation_p.E107Q NM_138775.2 NP_620130.2 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 (E. coli) 104 RRM. response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity p.E104*(2) breast(2)|large_intestine(2)|lung(5) 9 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) TCCACTACTTCTTTTCCATTG 0.353000 29 19 0 0 1 0 0 SCRT1 83482 broad.mit.edu 37 8 145557311 145557311 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr8:145557311C>T ENST00000332135.4 - 2 694 c.583G>A c.(583-585)Gag>Aag p.E195K NM_031309.4 NP_112599.1 Q9BWW7 SCRT1_HUMAN scratch family zinc finger 1 195 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|upper_aerodigestive_tract(1) 3 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TTGCCGCACTCGCCGCACGCG 0.786000 4 16 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564577 176564577 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:176564577C>G ENST00000367662.3 + 3 3001 c.1837C>G c.(1837-1839)Cgc>Ggc p.R613G PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613G NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 613 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGGTGACTGCCGCCTGCAGGG 0.587000 11 65 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25390488 25390488 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:25390488C>G ENST00000315368.3 + 7 641 c.499C>G c.(499-501)Ctc>Gtc p.L167V ANAPC4_ENST00000510092.1_Missense_Mutation_p.L167V NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 167 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) AATTATTAAGCTCTTGGGAGA 0.294000 6 23 0 0 1 0 0 ALG3 10195 broad.mit.edu 37 3 183963045 183963045 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr3:183963045G>A ENST00000455059.1 - 4 880 c.426C>T c.(424-426)ctC>ctT p.L142L EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.L126L|ALG3_ENST00000445626.2_Silent_p.L134L|ALG3_ENST00000397676.3_Silent_p.L182L Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 182 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TACTGAGGAAGAGCAGCACCA 0.552000 4 35 0 0 1 0 0 CENPK 64105 broad.mit.edu 37 5 64824348 64824348 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:64824348G>C ENST00000396679.1 - 9 742 c.528C>G c.(526-528)ctC>ctG p.L176L CENPK_ENST00000514814.1_Silent_p.L176L|CENPK_ENST00000242872.3_Silent_p.L176L|CENPK_ENST00000510693.1_Silent_p.L113L|CENPK_ENST00000508421.1_Silent_p.L146L|CENPK_ENST00000506282.2_5'UTR NM_022145.4 NP_071428.2 Q9BS16 CENPK_HUMAN centromere protein K 176 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm breast(1)|endometrium(1)|large_intestine(3)|lung(5) 10 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00466) AGGTACTCAAGAGTTTCTCCT 0.269000 4 13 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107350640 107350640 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:107350640A>G ENST00000265715.3 + 19 2455 c.2231A>G c.(2230-2232)gAa>gGa p.E744G SLC26A4_ENST00000544569.1_Missense_Mutation_p.E331G|SLC26A4_ENST00000543100.1_Missense_Mutation_p.E313G|SLC26A4_ENST00000541474.1_Missense_Mutation_p.E305G NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 744 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TCCATTTTAGAAACGGTAAAT 0.343000 Pendred syndrome 5 22 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 3 7 0 0 1 0 0 SGK2 10110 broad.mit.edu 37 20 42198105 42198105 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr20:42198105C>T ENST00000373100.1 + 7 769 c.309C>T c.(307-309)ttC>ttT p.F103F SGK2_ENST00000426287.1_Silent_p.F129F|SGK2_ENST00000373092.3_Silent_p.F103F|SGK2_ENST00000373077.1_Silent_p.F102F|SGK2_ENST00000423407.3_Silent_p.F103F|SGK2_ENST00000341458.4_Silent_p.F163F Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 163 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GCTACTCCTTCCAGACACCTG 0.617000 16 46 0 0 1 0 0 UBAC2 337867 broad.mit.edu 37 13 100020049 100020049 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr13:100020049G>C ENST00000376440.2 + 6 1214 c.711G>C c.(709-711)atG>atC p.M237I UBAC2_ENST00000403766.3_Missense_Mutation_p.M272I|UBAC2_ENST00000460562.1_3'UTR NM_177967.3 NP_808882.1 Q8NBM4 UBAC2_HUMAN UBA domain containing 2 272 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2) 10 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGGGAGGAATGATCAATTGGA 0.448000 5 20 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62374514 62374514 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:62374514G>C ENST00000394773.2 - 12 1727 c.1420C>G c.(1420-1422)Ctc>Gtc p.L474V EML3_ENST00000531557.1_Missense_Mutation_p.L257V|EML3_ENST00000529309.1_Missense_Mutation_p.L474V|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.L446V|EML3_ENST00000278845.4_Missense_Mutation_p.L475V NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 474 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TCTCCAGTGAGAATGTCTCCA 0.552000 27 90 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825505 4825505 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:4825505C>T ENST00000380382.1 - 1 342 c.343G>A c.(343-345)Gcc>Acc p.A115T MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36T Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GCATACGTGGCACAGAACGGA 0.512000 6 21 0 0 1 0 0 SPO11 23626 broad.mit.edu 37 20 55917836 55917836 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr20:55917836G>T ENST00000371263.3 + 12 1120 c.1011G>T c.(1009-1011)atG>atT p.M337I SPO11_ENST00000345868.4_Missense_Mutation_p.M299I|SPO11_ENST00000371260.4_Missense_Mutation_p.M295I NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 337 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) GGGACCAAATGAAACTTGACA 0.333000 Editing and processing nucleases 3 15 1 1 1 1 0 PRTG 283659 broad.mit.edu 37 15 55919293 55919293 + Nonsense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:55919293G>C ENST00000389286.4 - 17 2887 c.2840C>G c.(2839-2841)tCa>tGa p.S947* NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 947 multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GCCAGTCATTGATTTTTGGTC 0.358000 10 33 0 0 1 0 0 CYTH1 9267 broad.mit.edu 37 17 76694913 76694913 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr17:76694913C>T ENST00000589297.1 - 8 1203 c.511G>A c.(511-513)Gag>Aag p.E171K CYTH1_ENST00000585509.1_Missense_Mutation_p.E171K|CYTH1_ENST00000591455.1_Missense_Mutation_p.E230K|CYTH1_ENST00000446868.3_Missense_Mutation_p.E230K|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Missense_Mutation_p.E230K Q15438 CYH1_HUMAN cytohesin 1 230 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 CGGAGGAGCTCCTCCGGCAGG 0.488000 58 128 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167642273 167642273 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:167642273G>A ENST00000519204.1 + 20 3829 c.3711G>A c.(3709-3711)ccG>ccA p.P1237P TENM2_ENST00000545108.1_Silent_p.P1357P|TENM2_ENST00000518659.1_Silent_p.P1358P|TENM2_ENST00000403607.2_Silent_p.P1182P|TENM2_ENST00000520394.1_Silent_p.P1119P teneurin transmembrane protein 2 TGATGAGCCCGAGAGGTAAAG 0.537000 17 51 0 0 1 0 0 NOXRED1 122945 broad.mit.edu 37 14 77873011 77873011 + Silent SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr14:77873011T>A ENST00000298358.3 - 4 737 c.738A>T c.(736-738)ccA>ccT p.P246P NOXRED1_ENST00000380835.2_Intron Q6NXP6 CN148_HUMAN NADP-dependent oxidoreductase domain containing 1 0 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 AAGATAGCAATGGGCCAACAG 0.443000 15 42 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67410682 67410682 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:67410682G>A ENST00000329956.6 + 11 1732 c.1713G>A c.(1711-1713)ccG>ccA p.P571P LRRC36_ENST00000563189.1_Silent_p.P450P|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Intron NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 571 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CTTCTCAGCCGAGGTGTTGCT 0.527000 22 81 0 0 1 0 0 TTC29 83894 broad.mit.edu 37 4 147824762 147824762 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:147824762T>C ENST00000513335.1 - 7 797 c.598A>G c.(598-600)Aaa>Gaa p.K200E TTC29_ENST00000325106.4_Missense_Mutation_p.K174E|TTC29_ENST00000398886.4_Missense_Mutation_p.K200E Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 174 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) CAGTCAATTTTGATCAGCTGA 0.438000 4 7 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71444820 71444820 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr14:71444820C>G ENST00000304743.2 + 6 2212 c.1766C>G c.(1765-1767)aCc>aGc p.T589S PCNX_ENST00000238570.5_Missense_Mutation_p.T589S|PCNX_ENST00000439984.3_Missense_Mutation_p.T589S NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 589 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTTTCTGGTACCAAGCCACAC 0.478000 15 54 0 0 1 0 0 AGER 177 broad.mit.edu 37 6 32148967 32148967 + Nonsense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:32148967G>A ENST00000375076.4 - 11 1269 c.1168C>T c.(1168-1170)Cag>Tag p.Q390* AGER_ENST00000375067.3_Missense_Mutation_p.S338L|AGER_ENST00000438221.2_3'UTR|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375070.3_Nonsense_Mutation_p.Q421*|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375069.3_Nonsense_Mutation_p.Q280* NM_001136.4|NM_001206929.1|NM_001206932.1 NP_001127.1|NP_001193858.1|NP_001193861.1 Q15109 RAGE_HUMAN advanced glycosylation end product-specific receptor 390 cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 TCCTCCGACTGATTCAGTTCT 0.572000 62 206 0 0 1 0 0 RHCE 6006 broad.mit.edu 37 1 25717249 25717249 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:25717249C>T ENST00000349320.3 - 7 1132 c.744G>A c.(742-744)aaG>aaA p.K248K RHCE_ENST00000294413.7_Silent_p.K264K|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000243186.6_Silent_p.K264K|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Silent_p.K264K|RHCE_ENST00000413854.1_Silent_p.K264K|RHCE_ENST00000349438.4_Silent_p.K264K|RHCE_ENST00000374352.2_Silent_p.K248K|RHCE_ENST00000346452.4_Intron P18577 RHCE_HUMAN Rh blood group, CcEe antigens 264 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) CCATGCTGATCTTCCTTTGGG 0.557000 36 100 0 0 1 0 0 ORC6 23594 broad.mit.edu 37 16 46731459 46731459 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:46731459G>A ENST00000566860.1 + 6 861 c.574G>A c.(574-576)Gaa>Aaa p.E192K ORC6_ENST00000568364.2_3'UTR|ORC6_ENST00000219097.2_Missense_Mutation_p.E241K|ORC6_ENST00000575571.1_3'UTR Q9Y5N6 ORC6_HUMAN origin recognition complex, subunit 6 241 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 AAAAATTTTGGAAAATGCTGC 0.398000 10 22 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72102335 72102335 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:72102335C>G ENST00000425175.1 + 2 159 c.42C>G c.(40-42)ctC>ctG p.L14L SLC4A4_ENST00000264485.5_Silent_p.L14L|SLC4A4_ENST00000351898.6_Silent_p.L14L NM_001134742.1 NP_001128214.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 14 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CTTCCTTCCTCAAGCATGTGT 0.423000 6 34 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100482979 100482979 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:100482979C>T ENST00000388793.4 + 10 1522 c.1302C>T c.(1300-1302)gcC>gcT p.A434A SRRT_ENST00000347433.4_Silent_p.A435A|SRRT_ENST00000457580.2_Silent_p.A435A|SRRT_ENST00000432932.1_Silent_p.A434A NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 435 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 TCTCCCGGGCCGAGATCATCT 0.652000 13 44 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530254 80530254 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:80530254G>T ENST00000295057.3 - 2 1347 c.691C>A c.(691-693)Cgc>Agc p.R231S CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R231S|CTNNA2_ENST00000496558.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 231 axon|endoplasmic reticulum membrane|growth cone|integral to membrane p.R231C(2) NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GAGATGAGGCGCGGGAAGTGG 0.582000 HNSCC(69;0.2) 25 73 1.42536e-11 1.61361e-11 1 1 0 PTPN7 5778 broad.mit.edu 37 1 202124662 202124662 + Splice_Site SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:202124662C>G ENST00000309017.3 - 5 1555 c.783_splice c.e5+1 p.R261_splice PTPN7_ENST00000308986.5_Splice_Site_p.R156_splice|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000367279.4_Splice_Site_p.R195_splice NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 156 Tyrosine-protein phosphatase. cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 GCCACTCACTCGGATGTAGTT 0.547000 8 20 0 0 1 0 0 PPP3CA 5530 broad.mit.edu 37 4 101947115 101947115 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:101947115G>A ENST00000394854.3 - 14 2156 c.1473C>T c.(1471-1473)ccC>ccT p.P491P PPP3CA_ENST00000512215.1_Silent_p.P259P|PPP3CA_ENST00000523694.2_Silent_p.P424P|PPP3CA_ENST00000323055.6_Silent_p.P439P|PPP3CA_ENST00000394853.4_Silent_p.P481P|PPP3CA_ENST00000507176.1_Silent_p.P393P NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 491 protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) TGGCGTCAGAGGGCATGGCAT 0.493000 30 118 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215809784 215809784 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:215809784G>C ENST00000272895.7 - 49 7503 c.7284C>G c.(7282-7284)ctC>ctG p.L2428L ABCA12_ENST00000389661.4_Silent_p.L2110L|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2428 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGATCTTCCAGAGGTGCCGTT 0.383000 4 24 0 0 1 0 0 DDX51 317781 broad.mit.edu 37 12 132627407 132627407 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr12:132627407G>C ENST00000397333.3 - 3 574 c.536C>G c.(535-537)cCa>cGa p.P179R NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 179 rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) CAGCCACCTTGGCAGGAAAGG 0.572000 15 68 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147092152 147092152 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:147092152C>G ENST00000234739.3 + 8 2931 c.2191C>G c.(2191-2193)Cag>Gag p.Q731E NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 731 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) ATCCAACTCTCAGATGATACC 0.537000 T """IGH@, IGL@""" B-ALL 9 24 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215852510 215852510 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:215852510G>A ENST00000272895.7 - 27 4056 c.3837C>T c.(3835-3837)taC>taT p.Y1279Y ABCA12_ENST00000389661.4_Silent_p.Y961Y NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1279 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTGCCATACCGTATGTCCCTG 0.413000 5 12 0 0 1 0 0 SPINK14 408187 broad.mit.edu 37 5 147553847 147553847 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:147553847C>G ENST00000356972.1 + 3 162 c.162C>G c.(160-162)gtC>gtG p.V54V SPINK14_ENST00000562793.1_Intron NM_001001325.1 NP_001001325.1 Q6IE38 ISK14_HUMAN serine peptidase inhibitor, Kazal type 14 (putative) 54 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity breast(1)|large_intestine(1)|lung(1) 3 ATGGAACGGTCAACCCCTGCC 0.413000 16 19 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160464244 160464244 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:160464244C>A ENST00000356956.1 + 12 1693 c.1545C>A c.(1543-1545)ttC>ttA p.F515L NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 515 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AGCATTTTTTCATTAATATTT 0.478000 23 62 2.89027e-11 3.24749e-11 1 1 0 HAO1 54363 broad.mit.edu 37 20 7886943 7886943 + Silent SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr20:7886943A>G ENST00000378789.3 - 4 630 c.579T>C c.(577-579)ttT>ttC p.F193F NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 193 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCTCAGGAGAAAATGATAAAG 0.343000 3 16 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62226518 62226518 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:62226518C>A ENST00000261517.5 - 49 5841 c.5768G>T c.(5767-5769)tGg>tTg p.W1923L VPS13C_ENST00000395896.4_Missense_Mutation_p.W1923L|VPS13C_ENST00000395898.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000249837.3_Missense_Mutation_p.W1880L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1923 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TGAGTCTGTCCAATCTTCTTG 0.274000 13 49 2.27111e-07 2.41607e-07 1 1 0 RCC1 1104 broad.mit.edu 37 1 28858861 28858861 + Splice_Site SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:28858861G>A ENST00000373833.6 + 7 725 c.441_splice c.e7+1 p.R147_splice RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Splice_Site_p.R178_splice|RCC1_ENST00000398958.2_Splice_Site_p.R147_splice|RCC1_ENST00000373832.1_Splice_Site_p.R147_splice P18754 RCC1_HUMAN regulator of chromosome condensation 1 147 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GGCTCCTTCCGGGTAAGGCTG 0.547000 12 37 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1250445 1250445 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:1250445C>T ENST00000348261.5 + 7 1241 c.993C>T c.(991-993)ggC>ggT p.G331G CACNA1H_ENST00000358590.4_Silent_p.G331G|CACNA1H_ENST00000565831.1_Silent_p.G331G NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 331 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AGGGGGTGGGCGCTGCACGCA 0.662000 7 31 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121411137 121411137 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr3:121411137C>G ENST00000393667.3 - 14 7184 c.7074G>C c.(7072-7074)aaG>aaC p.K2358N GOLGB1_ENST00000340645.5_Missense_Mutation_p.K2353N NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2353 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CATAACTGAACTTAGAATTTT 0.368000 11 34 0 0 1 0 0 RBBP5 5929 broad.mit.edu 37 1 205073025 205073025 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:205073025C>T ENST00000264515.6 - 5 623 c.482G>A c.(481-483)aGg>aAg p.R161K RBBP5_ENST00000367164.1_Missense_Mutation_p.R161K NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 161 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) TTCCCCTCGCCTATCAAAAGA 0.433000 25 93 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176018456 176018456 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:176018456C>A ENST00000510636.1 + 30 3979 c.3705C>A c.(3703-3705)ctC>ctA p.L1235L CDHR2_ENST00000261944.5_Silent_p.L1235L|CDHR2_ENST00000506348.1_Silent_p.L1235L NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1235 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TGGAGTACCTCTCTCCCTCCA 0.602000 18 62 6.94344e-10 7.71494e-10 1 1 0 GYS1 2997 broad.mit.edu 37 19 49481247 49481247 + Silent SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr19:49481247G>T ENST00000323798.3 - 10 1438 c.1242C>A c.(1240-1242)ccC>ccA p.P414P GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Silent_p.P47P|GYS1_ENST00000263276.6_Silent_p.P350P|GYS1_ENST00000541188.1_Silent_p.P334P NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 414 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TGTTCATGTCGGGAAGGCTCC 0.542000 21 51 1.00905e-13 1.15982e-13 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103483409 103483409 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:103483409G>A ENST00000358392.2 - 11 1733 c.1416C>T c.(1414-1416)ggC>ggT p.G472G COL11A1_ENST00000353414.4_Silent_p.G421G|COL11A1_ENST00000370096.3_Silent_p.G460G|COL11A1_ENST00000512756.1_Silent_p.G344G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 460 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTCCAGTGGGGCCTTGTAGAC 0.388000 31 59 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127797497 127797497 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:127797497C>G ENST00000556132.1 - 6 2538 c.1674G>C c.(1672-1674)caG>caC p.Q558H SOGA3_ENST00000368268.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000465909.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000525778.1_Missense_Mutation_p.Q558H|SOGA3_ENST00000481848.2_Missense_Mutation_p.Q558H NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 558 integral to membrane ATCTGTACTTCTGGAGCTCGT 0.493000 15 65 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26881104 26881104 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:26881104G>C ENST00000374168.2 + 9 785 c.631G>C c.(631-633)Gag>Cag p.E211Q RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E211Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E195Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E220Q NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 211 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) CCTGAGCAAAGAGGCCATTGA 0.602000 26 162 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75679473 75679473 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:75679473G>T ENST00000370855.5 - 22 1992 c.1879C>A c.(1879-1881)Ctg>Atg p.L627M SLC44A5_ENST00000370859.3_Missense_Mutation_p.L627M|SLC44A5_ENST00000535611.1_Missense_Mutation_p.L497M NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 627 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 AGGAAGGCCAGAACACCTACA 0.363000 14 46 1.5842e-08 1.71574e-08 1 1 0 MIF4GD 57409 broad.mit.edu 37 17 73265430 73265430 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr17:73265430C>G ENST00000577542.1 - 3 465 c.203G>C c.(202-204)aGa>aCa p.R68T MIF4GD_ENST00000245551.5_Missense_Mutation_p.R61T|MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000325102.8_Intron|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R68T|MIF4GD_ENST00000578305.1_Intron A9UHW6 MI4GD_HUMAN MIF4G domain containing 27 MIF4G. regulation of translation|RNA metabolic process cytoplasm|nucleus protein C-terminus binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 10 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) AGACAAACCTCTGTACTGCGT 0.498000 11 65 0 0 1 0 0 MRPL42 28977 broad.mit.edu 37 12 93873187 93873187 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr12:93873187C>A ENST00000549982.1 + 4 319 c.158C>A c.(157-159)tCt>tAt p.S53Y MRPL42_ENST00000548545.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000552217.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000361630.2_Missense_Mutation_p.S53Y|MRPL42_ENST00000547098.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000393128.4_Missense_Mutation_p.S53Y NM_014050.3|NM_172177.3 NP_054769.1|NP_751917.1 Q9Y6G3 RM42_HUMAN mitochondrial ribosomal protein L42 53 translation mitochondrial small ribosomal subunit structural constituent of ribosome p.S53C(2) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2) 7 GCTCTGACTTCTGATGGCAGG 0.323000 8 14 1.58986e-06 1.67354e-06 1 1 0 TPCN2 219931 broad.mit.edu 37 11 68822821 68822821 + Splice_Site SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:68822821G>A ENST00000294309.3 + 4 530 c.e4+1 TPCN2_ENST00000442692.2_Splice_Site|TPCN2_ENST00000542467.1_Splice_Site NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTCTGTGAAGGTGAGGCGGGC 0.672000 22 24 0 0 1 0 0 EXOC1 55763 broad.mit.edu 37 4 56762881 56762881 + Splice_Site SNP A A C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:56762881A>C ENST00000381295.2 + 16 2301 c.e16-1 EXOC1_ENST00000346134.7_Splice_Site|EXOC1_ENST00000349598.6_Splice_Site NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) GCCTAACTTTAGAGTAACCAA 0.303000 9 19 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154360714 154360714 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:154360714A>G ENST00000414028.2 + 1 85 c.35A>G c.(34-36)aAt>aGt p.N12S OPRM1_ENST00000419506.2_Missense_Mutation_p.N12S|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000360422.4_Missense_Mutation_p.N12S|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_Missense_Mutation_p.N12S|OPRM1_ENST00000434900.2_Missense_Mutation_p.N105S|OPRM1_ENST00000524163.1_Missense_Mutation_p.N12S|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000428397.2_Missense_Mutation_p.N12S|OPRM1_ENST00000330432.7_Missense_Mutation_p.N12S|OPRM1_ENST00000435918.2_Missense_Mutation_p.N12S|OPRM1_ENST00000229768.5_Missense_Mutation_p.N12S|OPRM1_ENST00000452687.2_Missense_Mutation_p.N12S NM_001145284.2 NP_001138756.1 P35372 OPRM_HUMAN opioid receptor, mu 1 12 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AACGCCAGCAATTGCACTGAT 0.632000 6 26 0 0 1 0 0 UMPS 7372 broad.mit.edu 37 3 124454085 124454085 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr3:124454085A>G ENST00000232607.2 + 2 408 c.302A>G c.(301-303)aAg>aGg p.K101R UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron|UMPS_ENST00000536109.1_Missense_Mutation_p.K9R NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 101 OPRTase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) AAAGAAACAAAGGATTATGGT 0.338000 4 12 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17366690 17366690 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr9:17366690T>A ENST00000380647.3 + 13 2046 c.1962T>A c.(1960-1962)aaT>aaA p.N654K CNTLN_ENST00000425824.1_Missense_Mutation_p.N654K|CNTLN_ENST00000262360.5_Missense_Mutation_p.N654K Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 654 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AAGAATTGAATAGATGTGTGG 0.269000 5 22 0 0 1 0 0 WBSCR28 135886 broad.mit.edu 37 7 73275545 73275545 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:73275545C>G ENST00000320531.2 + 1 57 c.21C>G c.(19-21)gtC>gtG p.V7V NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 7 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) TTCCTCCAGTCAGATCCAGCC 0.617000 16 49 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148048585 148048585 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chrX:148048585G>T ENST00000370460.2 + 14 3658 c.3179G>T c.(3178-3180)aGa>aTa p.R1060I AFF2_ENST00000370457.5_Missense_Mutation_p.R1025I|AFF2_ENST00000342251.3_Missense_Mutation_p.R1027I|AFF2_ENST00000286437.5_Missense_Mutation_p.R701I NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1060 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AATGTCCGGAGACCCAAGCTC 0.522000 35 228 3.62531e-18 4.21547e-18 1 1 0 MTMR14 64419 broad.mit.edu 37 3 9712819 9712819 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr3:9712819G>A ENST00000296003.4 + 6 764 c.642G>A c.(640-642)ctG>ctA p.L214L MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.L214L|MTMR14_ENST00000351233.5_Silent_p.L214L NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 214 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) TCTGTGACCTGATGGTGGAGA 0.458000 12 32 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17379208 17379208 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:17379208G>C ENST00000242057.4 + 10 2402 c.1759G>C c.(1759-1761)Gat>Cat p.D587H NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 587 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) GTATGTCCAAGATTCTTTAAG 0.393000 18 71 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751494 140751494 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:140751494C>T ENST00000576222.1 + 1 1664 c.1533C>T c.(1531-1533)agC>agT p.S511S PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGGAGCGGGGTGGTGT 0.667000 13 72 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48428702 48428702 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr10:48428702A>G ENST00000224605.2 - 2 1449 c.1184T>C c.(1183-1185)aTc>aCc p.I395T NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 395 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 TTTCGGTGAGATTATCCATTC 0.532000 11 46 0 0 1 0 0 CD81-AS1 101927682 broad.mit.edu 37 11 2356559 2356559 + RNA SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:2356559C>G ENST00000413483.1 - 0 407 RPL26P30_ENST00000602923.1_RNA TGCATTTTCTCAATAAGTTCT 0.393000 6 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8959696 8959696 + Missense_Mutation SNP C C T rs61748893 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr19:8959696C>T ENST00000397910.4 - 84 43639 c.43436G>A c.(43435-43437)cGc>cAc p.R14479H MUC16_ENST00000380951.5_Missense_Mutation_p.R1120H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 22124 SEA 16. Missing (in Ref. 3; AAK74120). 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 CTTCCGCCGGCGGGTGGTCAC 0.577000 6 10 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31422660 31422660 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:31422660G>A ENST00000389202.2 + 14 1578 c.1529G>A c.(1528-1530)cGt>cAt p.R510H NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 510 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCTGTTCTCCGTGGTGAGCAG 0.637000 45 144 0 0 1 0 0 CHRDL1 91851 broad.mit.edu 37 X 109919583 109919583 + Nonsense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chrX:109919583C>T ENST00000218054.4 - 12 1443 c.1247G>A c.(1246-1248)tGg>tAg p.W416* CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.W410*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.W338*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.W418*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.W337*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.W416*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.W417* NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 410 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GAAGATCTTCCACTGGCCTAA 0.458000 8 45 0 0 1 0 0 SBK1 388228 broad.mit.edu 37 16 28328856 28328856 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:28328856C>T ENST00000341901.4 + 2 933 c.144C>T c.(142-144)gaC>gaT p.D48D NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 48 cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 CCGCCAGCGACGTCACCAAGC 0.637000 OREG0023701 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 49 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49416416 49416416 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr12:49416416C>T ENST00000301067.7 - 51 16294 c.16295G>A c.(16294-16296)cGg>cAg p.R5432Q NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.R5162Q(1) CACCTCGTTCCGAATGATGGT 0.552000 52 151 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57925925 57925925 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:57925925G>C ENST00000574161.1 + 8 1038 c.919G>C c.(919-921)Gag>Cag p.E307Q MYZAP_ENST00000380565.4_Missense_Mutation_p.E307Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.E238Q|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000396180.1_Missense_Mutation_p.E276Q|MYZAP_ENST00000267853.5_Missense_Mutation_p.E307Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E276Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E307Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E307Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.E307Q NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 307 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 CAGGCTGATTGAGCGCATGGA 0.502000 9 60 0 0 1 0 0 FKBP5 2289 broad.mit.edu 37 6 35544861 35544861 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:35544861G>C ENST00000536438.1 - 11 1491 c.1176C>G c.(1174-1176)tcC>tcG p.S392S FKBP5_ENST00000540787.1_Silent_p.S213S|FKBP5_ENST00000539068.1_Silent_p.S392S|FKBP5_ENST00000357266.4_Silent_p.S392S NM_001145775.1 NP_001139247.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 392 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 TCTGGCACATGGAGATCTGCA 0.517000 26 68 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54307998 54307998 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:54307998G>T ENST00000545554.1 + 1 2898 c.2898G>T c.(2896-2898)aaG>aaT p.K966N UNC13C_ENST00000260323.11_Missense_Mutation_p.K966N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K966N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 966 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAAAGCCAAAGAGAATTCGTC 0.398000 5 5 3.59834e-05 3.76133e-05 1 1 0 CEP192 55125 broad.mit.edu 37 18 13055849 13055849 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr18:13055849T>A ENST00000506447.1 + 19 3340 c.3260T>A c.(3259-3261)aTg>aAg p.M1087K CEP192_ENST00000325971.8_Missense_Mutation_p.M491K|CEP192_ENST00000430049.2_Missense_Mutation_p.M612K NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 682 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GAACGGGCTATGGAAAAATTG 0.363000 13 29 0 0 1 0 0 RDH12 145226 broad.mit.edu 37 14 68191258 68191258 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr14:68191258G>A ENST00000551171.1 + 4 461 c.137G>A c.(136-138)gGc>gAc p.G46D RDH12_ENST00000267502.3_Missense_Mutation_p.G46D|RDH12_ENST00000539142.1_Missense_Mutation_p.G46D NM_152443.2 NP_689656.2 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 46 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4) 12 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) GTGATCACTGGCGCCAACACG 0.542000 18 59 0 0 1 0 0 GPR61 83873 broad.mit.edu 37 1 110086737 110086737 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:110086737G>C ENST00000527748.1 + 2 1776 c.1093G>C c.(1093-1095)Gag>Cag p.E365Q NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 365 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) GCCAGCTCCAGAGGAGGAGCT 0.567000 28 32 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72299451 72299451 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr10:72299451G>T ENST00000263563.6 + 15 2109 c.1841G>T c.(1840-1842)cGc>cTc p.R614L NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 AGCCAGCACCGCAGGGCCTGT 0.662000 22 86 3.5997e-14 4.1535e-14 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55996672 55996672 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr10:55996672A>G ENST00000373965.2 - 9 1290 c.896T>C c.(895-897)aTt>aCt p.I299T PCDH15_ENST00000395430.1_Missense_Mutation_p.I299T|PCDH15_ENST00000437009.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395446.1_Missense_Mutation_p.I299T|PCDH15_ENST00000414778.1_Missense_Mutation_p.I304T|PCDH15_ENST00000320301.6_Missense_Mutation_p.I299T|PCDH15_ENST00000373955.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395442.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395433.1_Missense_Mutation_p.I277T|PCDH15_ENST00000395432.2_Missense_Mutation_p.I262T|PCDH15_ENST00000395438.1_Missense_Mutation_p.I299T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.I277T|PCDH15_ENST00000395445.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395440.1_Missense_Mutation_p.I299T|PCDH15_ENST00000361849.3_Missense_Mutation_p.I299T NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 299 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGGCGTAACAATAATGGGGTT 0.408000 HNSCC(58;0.16) 23 57 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156236414 156236414 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:156236414G>A ENST00000361813.5 - 11 1317 c.1173C>T c.(1171-1173)ctC>ctT p.L391L SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 391 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) CATGATTGACGAGGTGGGAAA 0.582000 16 48 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112023 57112023 + Silent SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr12:57112023T>C ENST00000454682.1 - 3 3572 c.3291A>G c.(3289-3291)ccA>ccG p.P1097P NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_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 CTTTGGGGGATGGGGTAGCTG 0.662000 T BCL6 NHL 24 61 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219892531 219892531 + Silent SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:219892531G>T ENST00000341552.5 - 13 2135 c.2052C>A c.(2050-2052)atC>atA p.I684I CCDC108_ENST00000409865.3_Silent_p.I673I|CCDC108_ENST00000453220.1_Silent_p.I684I|CCDC108_ENST00000441968.1_Silent_p.I684I|CCDC108_ENST00000410037.1_Silent_p.I619I NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 684 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGACCACCATGATCTTGCCCT 0.622000 7 41 0.00307968 0.00316405 1 1 0 EDC4 23644 broad.mit.edu 37 16 67914646 67914646 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:67914646G>C ENST00000358933.5 + 18 2523 c.2284G>C c.(2284-2286)Gag>Cag p.E762Q NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 762 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTCTGCACCAGAGGGCCTTGA 0.657000 45 173 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16577604 16577604 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:16577604G>A ENST00000375592.3 - 10 1931 c.1715C>T c.(1714-1716)tCg>tTg p.S572L NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 572 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TGCAGAGGCCGAGGGGCCTTT 0.637000 17 54 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233408064 233408064 + Silent SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:233408064G>T ENST00000389494.3 + 8 906 c.885G>T c.(883-885)gtG>gtT p.V295V CHRNG_ENST00000389492.3_Silent_p.V243V NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 295 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCAAGAAGGTGCCTGAAACCT 0.592000 13 33 7.03913e-09 7.67905e-09 1 1 0 MGAM 8972 broad.mit.edu 37 7 141736626 141736626 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:141736626C>A ENST00000475668.2 + 18 2134 c.2080C>A c.(2080-2082)Cag>Aag p.Q694K MGAM_ENST00000549489.2_Missense_Mutation_p.Q694K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 694 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTCCCAGGACCAGGATCCTGC 0.488000 40 115 7.53189e-24 8.86105e-24 1 1 0 PIGG 54872 broad.mit.edu 37 4 493239 493239 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:493239G>C ENST00000453061.2 + 1 221 c.115G>C c.(115-117)Gaa>Caa p.E39Q PIGG_ENST00000504346.1_Intron|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E39Q|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.E39Q|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000536264.1_5'UTR NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 39 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 TGCCAGAGCGGAACACGGAGC 0.652000 5 13 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38792304 38792304 + Splice_Site SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:38792304C>G ENST00000310803.5 - 14 1897 c.1720_splice c.e14+1 p.D574_splice RASGRP1_ENST00000558164.1_Splice_Site_p.G539_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.D539_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.D539_splice|RASGRP1_ENST00000539159.1_Splice_Site_p.D526_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.D625_splice NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 574 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TGAGTCTTACCTTTACATCGA 0.428000 17 63 0 0 1 0 0 KCNJ14 3770 broad.mit.edu 37 19 48967826 48967826 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr19:48967826A>T ENST00000391884.1 + 2 1579 c.1103A>T c.(1102-1104)gAa>gTa p.E368V KCNJ14_ENST00000342291.2_Missense_Mutation_p.E368V Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel, subfamily J, member 14 368 voltage-gated potassium channel complex inward rectifier potassium channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) GAGCTGGATGAACGGGCAGAG 0.557000 12 52 0 0 1 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217509 26217509 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:26217509A>T ENST00000303910.2 + 1 345 c.307A>T c.(307-309)Atc>Ttc p.I103F NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 103 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) TCGCGTGACCATCGCGCAGGG 0.577000 19 69 0 0 1 0 0 PFDN4 5203 broad.mit.edu 37 20 52830980 52830980 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr20:52830980G>A ENST00000371419.2 + 2 369 c.115G>A c.(115-117)Gaa>Aaa p.E39K PFDN4_ENST00000487129.1_3'UTR NM_002623.3 NP_002614.2 Q9NQP4 PFD4_HUMAN prefoldin subunit 4 39 'de novo' posttranslational protein folding prefoldin complex chaperone binding|unfolded protein binding endometrium(1)|kidney(2) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206) GCTGAAGGAAGAAATAGAAGT 0.284000 4 11 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160525931 160525931 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:160525931A>T ENST00000356956.1 + 48 7439 c.7291A>T c.(7291-7293)Agc>Tgc p.S2431C IGF2R_ENST00000475584.1_Intron NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 2431 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TGGGGCAGAGAGCTCCCACCC 0.607000 22 78 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558224 149558224 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:149558224C>G ENST00000223210.4 + 7 2220 c.1975C>G c.(1975-1977)Ctg>Gtg p.L659V NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 CTACATCACTCTGGCCCCTCT 0.587000 4 23 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48798592 48798592 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr8:48798592G>C ENST00000314191.2 - 37 4742 c.4686C>G c.(4684-4686)ttC>ttG p.F1562L PRKDC_ENST00000338368.3_Missense_Mutation_p.F1562L|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1563 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TCGTTTCTGAGAACAAGCTAT 0.473000 Non-homologous end-joining 12 126 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107692621 107692621 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:107692621C>G ENST00000388781.3 - 26 3920 c.3837G>C c.(3835-3837)aaG>aaC p.K1279N LAMB4_ENST00000388780.3_Missense_Mutation_p.K1279N|LAMB4_ENST00000205386.4_Missense_Mutation_p.K1279N NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1279 Domain II. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CTGCTTCATTCTTTGCTCTTT 0.358000 15 55 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123594531 123594531 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:123594531T>A ENST00000340011.5 + 3 1264 c.907T>A c.(907-909)Tat>Aat p.Y303N SPAM1_ENST00000223028.7_Missense_Mutation_p.Y303N|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000439500.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y303N NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 303 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GGTTTTTGCATATACCCGCAT 0.403000 8 26 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139400146 139400146 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr9:139400146C>T ENST00000277541.6 - 25 4277 c.4202G>A c.(4201-4203)gGg>gAg p.G1401E NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1401 EGF-like 36. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTCACAGGTCCCCTGGTTGTA 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 9 0 0 1 0 0 SNHG24 101929369 broad.mit.edu 37 14 101441178 101441178 + RNA SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr14:101441178T>A ENST00000554693.2 + 0 462 SNORD114-17_ENST00000364699.1_RNA ATTGGAGTTATGGACGATGAA 0.373000 14 33 0 0 1 0 0 DEPDC7 91614 broad.mit.edu 37 11 33049326 33049326 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:33049326C>T ENST00000311388.3 + 3 908 c.532C>T c.(532-534)Cat>Tat p.H178Y DEPDC7_ENST00000241051.3_Missense_Mutation_p.H187Y NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 187 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 caactcccctcatgtaaatat 0.363000 5 12 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52840499 52840499 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:52840499C>T ENST00000371568.3 - 16 2592 c.2374G>A c.(2374-2376)Gaa>Aaa p.E792K ORC1_ENST00000371566.1_Missense_Mutation_p.E792K NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 792 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AACGTGGCTTCCTCCAGTCCT 0.433000 3 23 0 0 1 0 0 LAP3 51056 broad.mit.edu 37 4 17598725 17598725 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:17598725G>A ENST00000226299.4 + 9 1319 c.1045G>A c.(1045-1047)Gtt>Att p.V349I AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.V318I|LAP3_ENST00000503467.1_3'UTR NM_015907.2 NP_056991.2 P28838 AMPL_HUMAN leucine aminopeptidase 3 349 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1) 20 GCCGGGGGATGTTGTTAGAGC 0.502000 7 65 0 0 1 0 0 FAM114A2 10827 broad.mit.edu 37 5 153382442 153382442 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:153382442C>G ENST00000351797.4 - 10 1157 c.1081G>C c.(1081-1083)Gaa>Caa p.E361Q FAM114A2_ENST00000520667.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000520313.1_Missense_Mutation_p.E291Q NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114, member A2 361 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 TCAGTATTTTCTGCTTCCGAC 0.383000 22 92 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672165 186672165 + Silent SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:186672165G>T ENST00000343098.5 + 17 18399 c.18399G>T c.(18397-18399)ctG>ctT p.L6133L FSIP2_ENST00000424728.1_Silent_p.L6044L NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CCACAGAACTGAATTTCCTTC 0.338000 11 52 1.5842e-08 1.71574e-08 1 1 0 PCDHA6 56142 broad.mit.edu 37 5 140209569 140209569 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:140209569C>A ENST00000529310.1 + 1 2007 c.1893C>A c.(1891-1893)atC>atA p.I631I PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCGAGATCAGCACCACTC 0.672000 18 103 1.56452e-12 1.78463e-12 1 1 0 PAGR1 79447 broad.mit.edu 37 16 29827930 29827930 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:29827930C>G ENST00000320330.6 + 1 646 c.84C>G c.(82-84)ctC>ctG p.L28L AC009133.20_ENST00000569039.1_RNA NM_024516.3 NP_078792.1 PAXIP1 associated glutamate-rich protein 1 CCTCCGGCCTCCAGGCTCTGG 0.687000 OREG0023722 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 9 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132399963 132399963 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr12:132399963C>G ENST00000321867.4 + 18 1957 c.1606C>G c.(1606-1608)Cca>Gca p.P536A NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 536 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GTCCCCTCGTCCAGGTGGGTG 0.632000 12 22 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49736230 49736230 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr3:49736230G>C ENST00000327697.6 + 9 757 c.613G>C c.(613-615)Gat>Cat p.D205H RNF123_ENST00000432042.1_Missense_Mutation_p.D59H NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 205 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GATTGACCTGGATGATGGCAC 0.622000 6 33 0 0 1 0 0 MRPS31P5 100887750 broad.mit.edu 37 13 52768470 52768470 + RNA SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr13:52768470G>T ENST00000451298.1 - 0 1229 RP11-64P12.8_ENST00000606031.1_RNA AGGGTGGCAGGAAAGGGTGCT 0.567000 2 0 0.0784 0.0794595 1 1 0 OR4Q3 441669 broad.mit.edu 37 14 20216398 20216398 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr14:20216398T>C ENST00000331723.1 + 1 812 c.812T>C c.(811-813)aTa>aCa p.I271T NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGATAAGATATTCTCCTTG 0.433000 14 49 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126754881 126754881 + Missense_Mutation SNP A A G rs79671291 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:126754881A>G ENST00000274473.6 + 12 1642 c.1375A>G c.(1375-1377)Aaa>Gaa p.K459E MEGF10_ENST00000418761.2_Missense_Mutation_p.K459E|MEGF10_ENST00000503335.2_Missense_Mutation_p.K459E|MEGF10_ENST00000508365.1_Missense_Mutation_p.K459E NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 459 EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTGTGGCTGTAAAAATGATGC 0.463000 23 77 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48603047 48603047 + Nonsense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr18:48603047C>T ENST00000342988.3 + 11 1886 c.1348C>T c.(1348-1350)Cag>Tag p.Q450* SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q354*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q450* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 450 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.R441fs*16(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GATGCAGCAGCAGGCGGCTAC 0.468000 13 25 0 0 1 0 0 RSPRY1 89970 broad.mit.edu 37 16 57241994 57241994 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:57241994G>T ENST00000537866.1 + 3 1248 c.375G>T c.(373-375)atG>atT p.M125I RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125I Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 125 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 CCTATTCAATGATAACATTAC 0.294000 11 66 4.36969e-10 4.87326e-10 1 1 0 TARBP1 6894 broad.mit.edu 37 1 234556462 234556462 + Missense_Mutation SNP G G C rs147943473 byFrequency TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:234556462G>C ENST00000040877.1 - 21 3540 c.3541C>G c.(3541-3543)Cct>Gct p.P1181A NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1181 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TCAAGTCTAGGGAAAAGTACC 0.358000 4 44 0 0 1 0 0 TCTE3 6991 broad.mit.edu 37 6 170143280 170143280 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:170143280C>T ENST00000366774.3 - 3 482 c.382G>A c.(382-384)Gaa>Aaa p.E128K NM_174910.1 NP_777570.1 Q8IZS6 TC1D3_HUMAN t-complex-associated-testis-expressed 3 128 transport cytoplasm|dynein complex|membrane|microtubule motor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1) 4 Breast(66;0.000338) OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157) TCTGCCAATTCAAGTGACAAG 0.294000 7 40 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167367 140167367 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:140167367C>T ENST00000504120.2 + 1 1492 c.1492C>T c.(1492-1494)Cgg>Tgg p.R498W PCDHA1_ENST00000394633.3_Missense_Mutation_p.R498W|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R498W NM_018900.2 NP_061723.1 p.R498W(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGAACGGCGGGTGGGCGA 0.672000 36 95 0 0 1 0 0 ID2 3398 broad.mit.edu 37 2 8822472 8822472 + Silent SNP G G A rs149826728 by1000genomes TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:8822472G>A ENST00000234091.4 + 3 1037 c.177G>A c.(175-177)gtG>gtA p.V59V ID2_ENST00000396290.1_Silent_p.V59V|ID2_ENST00000331129.3_Silent_p.V59V Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 59 Helix-loop-helix motif. cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACAAGAAGGTGAGCAAGATGG 0.547000 21 57 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr17:7578394T>C ENST00000420246.2 - 5 668 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGCGCTCATGGTGGGGGCA 0.642000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 40 0 0 1 0 0 NFYC 4802 broad.mit.edu 37 1 41213250 41213250 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:41213250G>A ENST00000372652.1 + 3 418 c.150G>A c.(148-150)aaG>aaA p.K50K NFYC_ENST00000308733.5_Silent_p.K50K|NFYC_ENST00000440226.3_Silent_p.K50K|NFYC_ENST00000425457.2_Silent_p.K50K|NFYC_ENST00000447388.3_Silent_p.K50K|NFYC_ENST00000427410.2_Silent_p.K50K|NFYC_ENST00000372651.1_Silent_p.K50K|NFYC_ENST00000372653.1_Silent_p.K50K|NFYC_ENST00000372654.1_Silent_p.K50K|NFYC_ENST00000456393.2_Silent_p.K50K Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma 50 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) GTATTAAGAAGATTATGAAAC 0.378000 5 19 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28234814 28234814 + Splice_Site SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr15:28234814T>A ENST00000354638.3 - 11 1272 c.e11-2 OCA2_ENST00000382996.2_Splice_Site|OCA2_ENST00000353809.5_Splice_Site NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCTGGGTCTCTGCAATCAAAG 0.572000 Oculocutaneous Albinism 7 30 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97527623 97527623 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:97527623G>A ENST00000305476.5 - 13 1584 c.1452C>T c.(1450-1452)ctC>ctT p.L484L NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 484 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 AGCCGGCAAAGAGCAGCTTCT 0.682000 4 17 0 0 1 0 0 DNAJC4 3338 broad.mit.edu 37 11 64001429 64001429 + Nonsense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:64001429C>A ENST00000321685.3 + 6 1056 c.591C>A c.(589-591)taC>taA p.Y197* RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_Nonsense_Mutation_p.Y198*|DNAJC4_ENST00000355040.4_3'UTR|RP11-783K16.14_ENST00000534988.1_RNA NM_005528.3 NP_005519.2 Q9NNZ3 DNJC4_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 4 197 protein folding|response to unfolded protein integral to membrane|membrane fraction heat shock protein binding|unfolded protein binding endometrium(1)|lung(1)|prostate(1) 3 CAGCCTTCTACAACGAAGCCC 0.542000 8 112 0.000442599 0.000459446 1 1 0 ANK2 287 broad.mit.edu 37 4 114274830 114274830 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:114274830G>A ENST00000357077.4 + 38 5109 c.5056G>A c.(5056-5058)Gag>Aag p.E1686K ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1653K NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1653 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACCCCCAGATGAGACACAGAG 0.443000 6 45 0 0 1 0 0 CORO1B 57175 broad.mit.edu 37 11 67209167 67209167 + Missense_Mutation SNP T T G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:67209167T>G ENST00000545016.1 - 4 576 c.491A>C c.(490-492)cAc>cCc p.H164P CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 0 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GAGGGGTCCGTGGGGGGGGGG 0.657000 4 13 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99772192 99772192 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:99772192G>A ENST00000370185.3 + 7 2415 c.1918G>A c.(1918-1920)Gaa>Aaa p.E640K LPPR4_ENST00000370184.1_Missense_Mutation_p.E482K|LPPR4_ENST00000457765.1_Missense_Mutation_p.E582K NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 640 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCCGTCCACTGAAGGTGAAGG 0.537000 12 32 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116605222 116605222 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr10:116605222C>T ENST00000369248.4 + 8 1445 c.1110C>T c.(1108-1110)ctC>ctT p.L370L FAM160B1_ENST00000369250.3_Silent_p.L370L NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 370 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 GTGATCAGCTCATTAAGGAAG 0.308000 6 15 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114682285 114682285 + Missense_Mutation SNP C C T rs138691067 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:114682285C>T ENST00000393296.1 - 2 541 c.464G>A c.(463-465)cGt>cAt p.R155H SYT6_ENST00000369547.1_Missense_Mutation_p.R70H Q5T7P8 SYT6_HUMAN synaptotagmin VI 155 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity p.R70H(1) central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCGGGTGTGACGCATGATGTG 0.622000 21 26 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161455314 161455314 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:161455314C>T ENST00000392142.4 + 2 324 c.176C>T c.(175-177)tCa>tTa p.S59L MAP3K4_ENST00000348824.7_Missense_Mutation_p.S59L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S59L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S59L NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 59 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TTGGGAGATTCAGCTTGCAAG 0.398000 12 38 0 0 1 0 0 KLHL17 339451 broad.mit.edu 37 1 900541 900541 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:900541G>A ENST00000338591.3 + 12 2006 c.1899G>A c.(1897-1899)ccG>ccA p.P633P NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch-like family member 17 633 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CATCCTCCCCGACGCTGTCCG 0.667000 19 39 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36895204 36895204 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:36895204C>T ENST00000310758.4 - 22 2783 c.2136G>A c.(2134-2136)ccG>ccA p.P712P ELMO1_ENST00000448602.1_Silent_p.P712P|ELMO1_ENST00000442504.1_Silent_p.P712P|ELMO1_ENST00000396040.2_Silent_p.P232P|ELMO1_ENST00000341056.3_Silent_p.P414P|ELMO1_ENST00000396045.3_Silent_p.P232P NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 712 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 CCTTGGGAATCGGCGGAGGTG 0.567000 14 73 0 0 1 0 0 SART3 9733 broad.mit.edu 37 12 108920071 108920071 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr12:108920071G>A ENST00000228284.3 - 16 2409 c.2175C>T c.(2173-2175)ctC>ctT p.L725L SART3_ENST00000431469.2_Silent_p.L689L NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 725 RRM 1. RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 AGGCCTCGAAGAGTGGCCTGA 0.567000 Porokeratosis 15 72 0 0 1 0 0 FAM73A 374986 broad.mit.edu 37 1 78267146 78267146 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:78267146C>G ENST00000370791.3 + 3 358 c.326C>G c.(325-327)cCa>cGa p.P109R FAM73A_ENST00000443751.2_Missense_Mutation_p.P71R NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 109 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) CCATGGGAACCAGAGCACCTC 0.358000 9 24 0 0 1 0 0 JADE1 79960 broad.mit.edu 37 4 129770191 129770191 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:129770191C>T ENST00000226319.6 + 5 633 c.353C>T c.(352-354)tCa>tTa p.S118L PHF17_ENST00000452328.2_Missense_Mutation_p.S106L|PHF17_ENST00000511647.1_Missense_Mutation_p.S118L|PHF17_ENST00000413543.2_Missense_Mutation_p.S118L|PHF17_ENST00000512960.1_Missense_Mutation_p.S118L NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 118 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TACATCGTGTCATCAGGCTCT 0.517000 23 56 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46136150 46136150 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr19:46136150C>G ENST00000536630.1 - 9 1058 c.920G>C c.(919-921)aGa>aCa p.R307T EML2_ENST00000587152.1_Missense_Mutation_p.R361T|EML2_ENST00000245925.3_Missense_Mutation_p.R160T|EML2_ENST00000589876.1_Missense_Mutation_p.R160T NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 160 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) GCACACGGCTCTGTCAAACAC 0.617000 6 22 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111160475 111160475 + Silent SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr13:111160475G>T ENST00000360467.5 + 47 5094 c.4788G>T c.(4786-4788)ccG>ccT p.P1596P COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1596 Collagen IV NC1. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GTGAGGCCCCGGCCATCGCCA 0.607000 5 49 5.9392e-07 6.2738e-07 1 1 0 PRKG2 5593 broad.mit.edu 37 4 82058607 82058607 + Missense_Mutation SNP T T A rs143281279 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:82058607T>A ENST00000395578.1 - 13 1690 c.1574A>T c.(1573-1575)tAt>tTt p.Y525F PRKG2_ENST00000545647.1_Missense_Mutation_p.Y105F|PRKG2_ENST00000264399.1_Missense_Mutation_p.Y525F|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.Y496F Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 525 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 CATGTATACATACTTATTGTC 0.363000 18 55 0 0 1 0 0 BTC 685 broad.mit.edu 37 4 75675857 75675857 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:75675857C>G ENST00000395743.3 - 4 714 c.354G>C c.(352-354)caG>caC p.Q118H NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 118 positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) TCACCAGAATCTGTCCTCTGT 0.378000 30 75 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132063882 132063882 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr3:132063882G>C ENST00000336375.5 + 7 850 c.760G>C c.(760-762)Gag>Cag p.E254Q ACPP_ENST00000351273.7_Missense_Mutation_p.E254Q|ACPP_ENST00000475741.1_Missense_Mutation_p.E221Q NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 254 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 CAAGCAGAAAGAGAAATCTAG 0.438000 13 23 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14794056 14794056 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr12:14794056C>T ENST00000261170.3 - 18 2164 c.2028G>A c.(2026-2028)cgG>cgA p.R676R NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 676 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGGTTTCTTTCCGCAGGATGA 0.522000 12 22 0 0 1 0 0 HMGN3 9324 broad.mit.edu 37 6 79912025 79912025 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:79912025G>A ENST00000344726.5 - 5 357 c.229C>T c.(229-231)Cca>Tca p.P77S HMGN3_ENST00000275036.7_Intron NM_001201362.1|NM_001201363.1|NM_004242.3 NP_001188291.1|NP_001188292.1|NP_004233.1 Q15651 HMGN3_HUMAN high mobility group nucleosomal binding domain 3 77 chromatin modification chromatin|cytoplasm|nucleus DNA binding|thyroid hormone receptor binding central_nervous_system(1)|kidney(2)|lung(1) 4 all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393) BRCA - Breast invasive adenocarcinoma(397;0.125) TTTTCAGATGGTGCAGTACCT 0.418000 19 99 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3448490 3448490 + Silent SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr17:3448490G>C ENST00000301365.4 - 3 326 c.195C>G c.(193-195)tcC>tcG p.S65S TRPV3_ENST00000572519.1_Silent_p.S65S|TRPV3_ENST00000576742.1_Silent_p.S65S Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 65 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) CCATGGGCTTGGAGAAGACAG 0.592000 6 37 0 0 1 0 0 FAM71E1 112703 broad.mit.edu 37 19 50978661 50978661 + Missense_Mutation SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr19:50978661A>G ENST00000600100.1 - 3 824 c.460T>C c.(460-462)Tcc>Ccc p.S154P FAM71E1_ENST00000595790.1_Missense_Mutation_p.S138P Q6IPT2 F71E1_HUMAN family with sequence similarity 71, member E1 154 breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) GCTGGACTGGAGGCTGCCACC 0.642000 3 16 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130060365 130060365 + Silent SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr11:130060365C>A ENST00000278742.5 + 7 1069 c.651C>A c.(649-651)ggC>ggA p.G217G NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 217 CUB 1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GCAGCTTTGGCCTGCACGCCC 0.711000 10 94 0.00621372 0.00636217 1 1 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993392 96993392 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:96993392C>G ENST00000361124.4 + 1 1458 c.1047C>G c.(1045-1047)ctC>ctG p.L349L ITPRIPL1_ENST00000439118.2_Silent_p.L341L|ITPRIPL1_ENST00000536814.1_Silent_p.L333L|ITPRIPL1_ENST00000542887.1_Silent_p.L333L NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 341 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACTTTAAACTCAGTCTCCCAC 0.572000 14 68 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71082580 71082580 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr8:71082580T>A ENST00000452400.2 - 6 579 c.398A>T c.(397-399)gAa>gTa p.E133V NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 133 PAS. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AACGTTGCCTTCCAGGTTCAC 0.393000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 5 4 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32161047 32161047 + Splice_Site SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr22:32161047G>A ENST00000400246.1 + 5 421 c.e5+1 DEPDC5_ENST00000400242.3_Splice_Site|DEPDC5_ENST00000400248.1_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000382112.3_Splice_Site|DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site O75140 DEPD5_HUMAN DEP domain containing 5 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AGACCCTAAGGTATGTCTTTG 0.388000 7 30 0 0 1 0 0 NCAPG2 54892 broad.mit.edu 37 7 158472660 158472660 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:158472660C>T ENST00000409339.3 - 11 1251 c.1138G>A c.(1138-1140)Gag>Aag p.E380K NCAPG2_ENST00000409423.1_Missense_Mutation_p.E380K|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E380K|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E172K|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E380K Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 380 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) ACATAGAGCTCTTCAAACTGT 0.433000 10 80 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97527348 97527348 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:97527348G>A ENST00000305476.5 - 14 1772 c.1640C>T c.(1639-1641)tCa>tTa p.S547L NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 547 PSI. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GCAGATGCCTGAAGTGTCCGA 0.557000 32 102 0 0 1 0 0 MOXD1 26002 broad.mit.edu 37 6 132645203 132645203 + Missense_Mutation SNP T T A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:132645203T>A ENST00000367963.3 - 7 1098 c.980A>T c.(979-981)tAc>tTc p.Y327F MOXD1_ENST00000336749.3_Missense_Mutation_p.Y259F|MOXD1_ENST00000489128.1_5'UTR NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 327 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) ATCCATTGTGTAAAATAACCT 0.398000 14 45 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19628032 19628032 + Nonsense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:19628032C>T ENST00000438132.3 + 14 1441 c.1393C>T c.(1393-1395)Cag>Tag p.Q465* C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q376*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q226*|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q125*|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000417362.2_Intron NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 376 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GGTCCAGAACCAGCTGGTGGT 0.512000 10 35 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80634736 80634736 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:80634736G>A ENST00000369816.4 - 3 602 c.302C>T c.(301-303)tCa>tTa p.S101L NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 101 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) CGCATTATATGATCCCATGAA 0.279000 6 25 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35107450 35107450 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr21:35107450C>G ENST00000381318.3 + 5 575 c.287C>G c.(286-288)tCt>tGt p.S96C ITSN1_ENST00000399338.4_Missense_Mutation_p.S96C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S96C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S96C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S96C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399353.1_Missense_Mutation_p.S96C|ITSN1_ENST00000381285.4_Missense_Mutation_p.S96C|ITSN1_ENST00000437442.2_Missense_Mutation_p.S96C NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 96 EH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 CAGCTACCCTCTGCACTTCCC 0.398000 15 72 0 0 1 0 0 RNASET2 8635 broad.mit.edu 37 6 167343140 167343140 + Missense_Mutation SNP C C T rs146590748 byFrequency TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:167343140C>T ENST00000366855.6 - 10 1268 c.593G>A c.(592-594)cGg>cAg p.R198Q RNASET2_ENST00000476238.2_Missense_Mutation_p.R236Q|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000508775.1_Missense_Mutation_p.R236Q O00584 RNT2_HUMAN ribonuclease T2 236 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding p.R236L(1) large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) TCTCAGACCCCGGCTCTCGGC 0.542000 14 275 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83905831 83905831 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr4:83905831G>C ENST00000340417.3 - 2 544 c.167C>G c.(166-168)tCt>tGt p.S56C LIN54_ENST00000505397.1_Missense_Mutation_p.S56C|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.S56C|LIN54_ENST00000395282.2_Missense_Mutation_p.S56C|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000506560.1_Missense_Mutation_p.S56C|LIN54_ENST00000510557.1_Intron NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 56 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.S56C(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) CGTGGCTGTAGAGTCACCAGT 0.408000 10 52 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155538268 155538268 + Missense_Mutation SNP A A T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:155538268A>T ENST00000401878.3 + 14 3149 c.2951A>T c.(2950-2952)aAg>aTg p.K984M NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 984 nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) ATCAGCTCCAAGGTCAGGGTG 0.522000 4 12 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61510333 61510333 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:61510333C>A ENST00000398571.2 - 37 5021 c.4945G>T c.(4945-4947)Gat>Tat p.D1649Y NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1649 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.D1649H(1) autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TGATCGCTATCAGCAAGGCTA 0.338000 4 24 1.024e-07 1.10108e-07 1 1 0 ARID1A 8289 broad.mit.edu 37 1 27099905 27099905 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:27099905C>T ENST00000324856.7 + 15 4155 c.3784C>T c.(3784-3786)Cgt>Tgt p.R1262C ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C|ARID1A_ENST00000540690.1_5'UTR NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1262 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCCTACAGTCGTGCTGCCGG 0.592000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 6 46 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752053 247752053 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:247752053G>A ENST00000320065.1 + 1 392 c.392G>A c.(391-393)cGt>cAt p.R131H RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R131H(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GCTGTCTGCCGTCCTCTCCAT 0.552000 21 131 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213921699 213921699 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:213921699G>A ENST00000457361.1 - 4 432 c.264C>T c.(262-264)agC>agT p.S88S IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000374319.4_Silent_p.S88S|IKZF2_ENST00000413091.3_Silent_p.S88S|IKZF2_ENST00000434687.1_Silent_p.S88S|IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000421754.2_Silent_p.S88S NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CAGCCACCTCGCTGCTCTCAA 0.527000 14 62 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30792496 30792496 + Silent SNP A A G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr12:30792496A>G ENST00000256079.4 - 21 2780 c.2442T>C c.(2440-2442)acT>acC p.T814T IPO8_ENST00000544829.1_Silent_p.T609T NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 814 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TAAACTGTACAGTGATAGGTC 0.383000 18 47 0 0 1 0 0 FRMD1 79981 broad.mit.edu 37 6 168475980 168475980 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr6:168475980C>T ENST00000283309.6 - 2 313 c.249G>A c.(247-249)gtG>gtA p.V83V FRMD1_ENST00000440994.2_Silent_p.V15V NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 83 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCACGTTGCACACTTGCTGGA 0.632000 13 89 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766863 57766863 + Silent SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr20:57766863C>G ENST00000371030.2 + 1 789 c.789C>G c.(787-789)acC>acG p.T263T NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 263 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ATGTGAGGACCGAAGCTGCTC 0.657000 17 62 0 0 1 0 0 LPCAT1 79888 broad.mit.edu 37 5 1463913 1463913 + Silent SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:1463913G>A ENST00000283415.3 - 14 1590 c.1458C>T c.(1456-1458)ttC>ttT p.F486F LPCAT1_ENST00000503252.1_5'UTR NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 486 EF-hand 2. phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding p.F486F(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) ATTCCTCTGCGAAGGCAGGGT 0.527000 24 135 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162302876 162302876 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:162302876C>A ENST00000361897.5 + 5 816 c.414C>A c.(412-414)agC>agA p.S138R NOS1AP_ENST00000530878.1_Missense_Mutation_p.S133R NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 138 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) ATGGTGCCAGCAATATCTTCA 0.433000 6 30 0.0215528 0.0219181 1 1 0 UGGT2 55757 broad.mit.edu 37 13 96505887 96505887 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr13:96505887C>G ENST00000376747.3 - 36 4264 c.4194G>C c.(4192-4194)aaG>aaC p.K1398N NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1398 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TCCTGAACTTCTTGAGATCCA 0.388000 6 12 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22850916 22850916 + Silent SNP C C T rs139786086 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:22850916C>T ENST00000404138.1 + 18 4015 c.3504C>T c.(3502-3504)gcC>gcT p.A1168A ZBTB40_ENST00000375647.4_Silent_p.A1168A|ZBTB40_ENST00000374651.4_Silent_p.A1056A NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 1168 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) AAACCCAGGCCGCAGCCTCAC 0.552000 23 42 0 0 1 0 0 SSX6 280657 broad.mit.edu 37 X 47972622 47972622 + Silent SNP G G A rs138080210 TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chrX:47972622G>A ENST00000319275.3 + 5 399 c.33G>A c.(31-33)ccG>ccA p.P11P SSX6_ENST00000376932.2_Silent_p.P109P large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 GAATCATCCCGAAGGTGAGTA 0.423000 22 54 0 0 1 0 0 KLHL30 377007 broad.mit.edu 37 2 239049882 239049882 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:239049882G>C ENST00000409223.1 + 2 594 c.487G>C c.(487-489)Gag>Cag p.E163Q KLHL30_ENST00000305959.4_Missense_Mutation_p.E145Q Q0D2K2 KLH30_HUMAN kelch-like family member 30 163 BACK. lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) AGAGAACTTTGAGGCTGTGGC 0.652000 5 22 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12154831 12154831 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr19:12154831G>T ENST00000602107.1 - 5 1525 c.1526C>A c.(1525-1527)tCt>tAt p.S509Y ZNF878_ENST00000547628.1_Missense_Mutation_p.S462Y|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron C9JN71 ZN878_HUMAN zinc finger protein 878 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AGAATTAGAAGAAATGAAGGC 0.388000 5 25 0.014758 0.0150592 1 1 0 TOP1MT 116447 broad.mit.edu 37 8 144398195 144398195 + Missense_Mutation SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr8:144398195T>C ENST00000523676.1 - 12 1543 c.1138A>G c.(1138-1140)Aag>Gag p.K380E TOP1MT_ENST00000521193.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000329245.4_Missense_Mutation_p.K478E Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 478 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TGCATCGACTTCTCGAACGTA 0.607000 17 143 0 0 1 0 0 ZNF396 252884 broad.mit.edu 37 18 32949319 32949319 + Nonsense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr18:32949319G>A ENST00000306346.1 - 4 999 c.868C>T c.(868-870)Cga>Tga p.R290* ZNF396_ENST00000589332.1_Nonsense_Mutation_p.R290* NM_145756.2 NP_665699.1 Q96N95 ZN396_HUMAN zinc finger protein 396 290 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 7 ATTGCGCTTCGGCTGAATGCC 0.448000 10 32 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3002435 3002435 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chrX:3002435G>C ENST00000381127.1 + 6 779 c.558G>C c.(556-558)gaG>gaC p.E186D ARSF_ENST00000537104.1_Missense_Mutation_p.E186D|ARSF_ENST00000359361.2_Missense_Mutation_p.E186D NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 186 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TAGCCTTTGAGAGTCAGCTCT 0.527000 12 65 0 0 1 0 0 GPATCH3 63906 broad.mit.edu 37 1 27226714 27226714 + Missense_Mutation SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:27226714C>T ENST00000361720.5 - 1 243 c.220G>A c.(220-222)Gag>Aag p.E74K NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 74 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) AGCTGGCCCTCAGCGGCTGGG 0.642000 18 66 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64675494 64675494 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr14:64675494G>A ENST00000357395.3 + 102 18519 c.7375G>A c.(7375-7377)Gaa>Aaa p.E2459K SYNE2_ENST00000344113.4_Missense_Mutation_p.E6074K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6074K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2459K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2708K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6036K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_5'UTR Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6074 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GCGAGATATTGAACAACACAG 0.517000 15 40 0 0 1 0 0 HPDL 84842 broad.mit.edu 37 1 45793750 45793750 + Frame_Shift_Del DEL G G - TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr1:45793750delG ENST00000334815.3 + 1 1206 c.930delG c.(928-930)cafs p.Q310fs NM_032756.2 NP_116145.1 Q96IR7 HPDL_HUMAN 4-hydroxyphenylpyruvate dioxygenase-like 310 aromatic amino acid family metabolic process 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(166;0.155) TTGCTCGACAGGGGATCCTGC 0.557 23 82 --- --- --- --- NNT 23530 broad.mit.edu 37 5 43628388 43628389 + Frame_Shift_Ins INS - - T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr5:43628388_43628389insT ENST00000264663.5 + 7 1084_1085 c.863_864insT c.(862-864)tgcfs p.C288fs NNT_ENST00000512996.2_Frame_Shift_Ins_p.C157fs|NNT_ENST00000344920.4_Frame_Shift_Ins_p.C288fs NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 288 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CAAGGAGGATATGCAAAAGAGA 0.455 37 58 --- --- --- --- AC118138.2 0 broad.mit.edu 37 7 74776112 74776113 + RNA INS - - A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:74776112_74776113insA ENST00000420642.1 + 0 554 aaaaacaaaacaaaaaaaaaac 0.401 2 4 --- --- --- --- LAMB1 3912 broad.mit.edu 37 7 107603497 107603498 + Frame_Shift_Ins INS - - A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr7:107603497_107603498insA ENST00000393561.1 - 13 1965_1966 c.1781_1782insT c.(1780-1782)agtfs p.S594fs LAMB1_ENST00000393560.1_Frame_Shift_Ins_p.S570fs|LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.S570fs P07942 LAMB1_HUMAN laminin, beta 1 570 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCGCTCCACTATGCTAACCCC 0.450 30 75 --- --- --- --- LOC101929735 101929735 broad.mit.edu 37 14 22892202 22892202 + RNA DEL A A - TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr14:22892202delA ENST00000514473.2 - 0 225 AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000541008.1_RNA ctaaaaatacaaaaaaaaaaa 0.547 3 5 --- --- --- --- TBX6 6911 broad.mit.edu 37 16 30097569 30097580 + In_Frame_Del DEL CATCCAGATAGC CATCCAGATAGC - TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr16:30097569_30097580delCATCCAGATAGC ENST00000395224.2 - 9 1336_1347 c.1277_1288delGCTATCTGGATG c.(1276-1290)gtg>g p.GYLDV426del TBX6_ENST00000279386.2_In_Frame_Del_p.GYLDV426del NM_004608.3 NP_004599.2 O95947 TBX6_HUMAN T-box 6 426 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 TTGGAGCCCACATCCAGATAGCCCCCAGGCGC 0.665 7 89 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 62 32 --- --- --- --- DNM2 1785 broad.mit.edu 37 19 10930720 10930724 + Frame_Shift_Del DEL TCATG TCATG - TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chr19:10930720_10930724delTCATG ENST00000314646.5 + 16 1900_1904 c.1736_1740delTCATG c.(1735-1740)tfs p.FM579fs DNM2_ENST00000585892.1_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000408974.4_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000355667.6_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000359692.6_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000389253.4_Frame_Shift_Del_p.FM579fs P50570 DYN2_HUMAN dynamin 2 579 PH. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GAGAAGGGCTTCATGTCCAACAAGC 0.571 """F, N, Splice, Mis, O""" ETP ALL 19 110 --- --- --- --- SPIN3 169981 broad.mit.edu 37 X 57020862 57020863 + Frame_Shift_Ins INS - - T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 42e1cbbc-c4cb-4c49-97d2-815d10ce5711 g.chrX:57020862_57020863insT ENST00000374919.3 - 2 840_841 c.518_519insA c.(517-519)tatfs p.Y173fs NM_001010862.2 NP_001010862.2 Q5JUX0 SPIN3_HUMAN spindlin family, member 3 173 gamete generation central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 GCTGGTACATATATAATACAGG 0.436 20 35 --- --- --- --- HPDL 84842 broad.mit.edu 37 1 45793750 45793750 + Frame_Shift_Del DEL G G - TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr1:45793750delG ENST00000334815.3 + 1 1206 c.930delG c.(928-930)cafs p.Q310fs NM_032756.2 NP_116145.1 Q96IR7 HPDL_HUMAN 4-hydroxyphenylpyruvate dioxygenase-like 310 aromatic amino acid family metabolic process 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(166;0.155) TTGCTCGACAGGGGATCCTGC 0.557 23 82 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 4 3 --- --- --- --- NNT 23530 broad.mit.edu 37 5 43628388 43628389 + Frame_Shift_Ins INS - - T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr5:43628388_43628389insT ENST00000264663.5 + 7 1084_1085 c.863_864insT c.(862-864)tgcfs p.C288fs NNT_ENST00000344920.4_Frame_Shift_Ins_p.C288fs|NNT_ENST00000512996.2_Frame_Shift_Ins_p.C157fs NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 288 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CAAGGAGGATATGCAAAAGAGA 0.455 37 58 --- --- --- --- LAMB1 3912 broad.mit.edu 37 7 107603497 107603498 + Frame_Shift_Ins INS - - A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr7:107603497_107603498insA ENST00000393561.1 - 13 1965_1966 c.1781_1782insT c.(1780-1782)agtfs p.S594fs LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.S570fs|LAMB1_ENST00000393560.1_Frame_Shift_Ins_p.S570fs P07942 LAMB1_HUMAN laminin, beta 1 570 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCGCTCCACTATGCTAACCCC 0.450 30 75 --- --- --- --- SNX29P2 440352 broad.mit.edu 37 16 29372348 29372348 + RNA DEL T T - TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:29372348delT ENST00000398878.3 + 0 1186 SNX29P2_ENST00000507381.1_RNA TGGGAGGttgttttttttttt 0.478 5 3 --- --- --- --- TBX6 6911 broad.mit.edu 37 16 30097569 30097580 + In_Frame_Del DEL CATCCAGATAGC CATCCAGATAGC - TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:30097569_30097580delCATCCAGATAGC ENST00000395224.2 - 9 1336_1347 c.1277_1288delGCTATCTGGATG c.(1276-1290)gtg>g p.GYLDV426del TBX6_ENST00000279386.2_In_Frame_Del_p.GYLDV426del NM_004608.3 NP_004599.2 O95947 TBX6_HUMAN T-box 6 426 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 TTGGAGCCCACATCCAGATAGCCCCCAGGCGC 0.665 7 89 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 4 9 --- --- --- --- DNM2 1785 broad.mit.edu 37 19 10930720 10930724 + Frame_Shift_Del DEL TCATG TCATG - TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chr19:10930720_10930724delTCATG ENST00000314646.5 + 16 1900_1904 c.1736_1740delTCATG c.(1735-1740)tfs p.FM579fs DNM2_ENST00000359692.6_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000355667.6_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000585892.1_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000408974.4_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000389253.4_Frame_Shift_Del_p.FM579fs P50570 DYN2_HUMAN dynamin 2 579 PH. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GAGAAGGGCTTCATGTCCAACAAGC 0.571 """F, N, Splice, Mis, O""" ETP ALL 19 110 --- --- --- --- SPIN3 169981 broad.mit.edu 37 X 57020862 57020863 + Frame_Shift_Ins INS - - T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-11A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 506a88bb-5855-4e54-8076-d5ace351c938 95d564f7-5f05-4ab9-9897-a5804b2fec36 g.chrX:57020862_57020863insT ENST00000374919.3 - 2 840_841 c.518_519insA c.(517-519)tatfs p.Y173fs NM_001010862.2 NP_001010862.2 Q5JUX0 SPIN3_HUMAN spindlin family, member 3 173 gamete generation central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 GCTGGTACATATATAATACAGG 0.436 20 35 --- --- --- ---