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 PAX7 5081 broad.mit.edu 37 1 19062344 19062344 + Silent SNP C C A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:19062344C>A ENST00000420770.2 + 8 1457 c.1374C>A c.(1372-1374)gcC>gcA p.A458A PAX7_ENST00000400661.3_Silent_p.A456A|PAX7_ENST00000375375.3_Silent_p.A458A NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 458 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A458A(1) PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) ACCCCGTGGCCGGCTATCAGT 0.672000 T FOXO1A alveolar rhabdomyosarcoma 30 36 1.08312e-15 1.32005e-15 1 1 0 SETDB1 9869 broad.mit.edu 37 1 150923335 150923335 + Missense_Mutation SNP A A T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:150923335A>T ENST00000271640.5 + 13 2172 c.1982A>T c.(1981-1983)gAt>gTt p.D661V SETDB1_ENST00000368969.4_Missense_Mutation_p.D661V|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 661 MBD. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TTCTGTTTGGATCCATATGTT 0.453000 15 75 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021539 132021539 + Missense_Mutation SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr2:132021539G>T ENST00000356920.5 + 15 2605 c.2511G>T c.(2509-2511)caG>caT p.Q837H PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 837 Actin-like. ATP binding TGGCCATCCAGGCCGTGCCGT 0.607000 33 234 6.97489e-18 8.59012e-18 1 1 0 MUC4 4585 broad.mit.edu 37 3 195505814 195505814 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr3:195505814C>T ENST00000463781.3 - 2 13096 c.12637G>A c.(12637-12639)Gac>Aac p.D4213N MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D4213N(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGAAGTGTCGGTGACAGGA 0.597000 3 7 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8196336 8196336 + Nonsense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr12:8196336C>T ENST00000162391.3 + 4 1593 c.448C>T c.(448-450)Cga>Tga p.R150* FOXJ2_ENST00000428177.2_Nonsense_Mutation_p.R150* NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 150 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding p.R150R(1) autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) TGACATTTCCCGAAAGAGAAG 0.483000 64 122 0 0 1 0 0 PNPT1 87178 broad.mit.edu 37 2 55867787 55867787 + Missense_Mutation SNP T T C TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr2:55867787T>C ENST00000447944.2 - 26 2209 c.2123A>G c.(2122-2124)cAt>cGt p.H708R NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 708 S1 motif. mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTGTGTGTTATGAAGCAGTAC 0.299000 18 42 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 7 61 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150923334 150923334 + Missense_Mutation SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:150923334G>T ENST00000271640.5 + 13 2171 c.1981G>T c.(1981-1983)Gat>Tat p.D661Y SETDB1_ENST00000368969.4_Missense_Mutation_p.D661Y|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 661 MBD. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GTTCTGTTTGGATCCATATGT 0.448000 15 73 3.27435e-08 3.83099e-08 1 1 0 SPEM1 374768 broad.mit.edu 37 17 7324312 7324312 + Silent SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr17:7324312G>A ENST00000323675.3 + 3 343 c.318G>A c.(316-318)ccG>ccA p.P106P RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 106 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) CTGTGTCCCCGCCCCCAGCTC 0.587000 31 37 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110788911 110788911 + Missense_Mutation SNP C C G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr4:110788911C>G ENST00000327908.3 + 3 919 c.155C>G c.(154-156)cCt>cGt p.P52R LRIT3_ENST00000409621.2_Missense_Mutation_p.P52R|LRIT3_ENST00000379920.3_Missense_Mutation_p.P190R|LRIT3_ENST00000594814.1_Missense_Mutation_p.P235R Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 190 integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) TGCAGTGAACCTGAGCGCCTC 0.473000 13 70 0 0 1 0 0 PSMC5 5705 broad.mit.edu 37 17 61907817 61907817 + Nonsense_Mutation SNP A A T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr17:61907817A>T ENST00000310144.6 + 6 816 c.508A>T c.(508-510)Aag>Tag p.K170* PSMC5_ENST00000375812.4_Nonsense_Mutation_p.K162*|PSMC5_ENST00000580864.1_Nonsense_Mutation_p.K162*|PSMC5_ENST00000581882.1_Nonsense_Mutation_p.K162* NM_002805.5 NP_002796.4 P62195 PRS8_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 5 170 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 20 GCTGCCTGTTAAGCATCCTGA 0.507000 20 42 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37903017 37903017 + Missense_Mutation SNP T T C TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr7:37903017T>C ENST00000199447.4 + 8 779 c.407T>C c.(406-408)gTa>gCa p.V136A NME8_ENST00000440017.1_Missense_Mutation_p.V136A|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 136 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ATTCCATTAGTAGACTCAGAT 0.333000 9 119 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101287227 101287227 + Silent SNP A A G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr8:101287227A>G ENST00000519449.1 - 4 1153 c.837T>C c.(835-837)acT>acC p.T279T RNF19A_ENST00000341084.2_Silent_p.T279T NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 279 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) AAGAACGTATAGTTCTCAAAC 0.393000 9 54 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642197 156642197 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:156642197C>T ENST00000368223.3 - 4 1915 c.1783G>A c.(1783-1785)Gag>Aag p.E595K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 595 Tail. ELLKDVEVVRPLEKEAVG -> RAIKGCGGSETSRKRGCR (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTAATAGCTCTTTATTTTCC 0.408000 14 71 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422511 47422511 + Silent SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr19:47422511G>A ENST00000404338.3 + 1 579 c.579G>A c.(577-579)aaG>aaA p.K193K NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 193 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity AAACAAAAAAGCCCATAGTGG 0.428000 9 41 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199064 4199064 + Silent SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr4:4199064G>T ENST00000296358.4 - 5 1521 c.1497C>A c.(1495-1497)gcC>gcA p.A499A NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 499 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CATTTCCATTGGCTGCTGGTG 0.597000 22 88 1.9806e-07 2.29436e-07 1 1 0 TRIM22 10346 broad.mit.edu 37 11 5730866 5730866 + Silent SNP A A G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr11:5730866A>G ENST00000379965.3 + 8 1762 c.1485A>G c.(1483-1485)ccA>ccG p.P495P TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 495 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) CTGTGTGCCCACCGAGCTCCT 0.493000 14 106 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201030409 201030409 + Silent SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:201030409G>A ENST00000362061.3 - 25 3467 c.3241C>T c.(3241-3243)Ctg>Ttg p.L1081L CACNA1S_ENST00000367338.3_Silent_p.L1081L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1081 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTCTTGTCCAGCTCACAGTTC 0.562000 4 31 0 0 1 0 0 MS4A10 341116 broad.mit.edu 37 11 60565933 60565933 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr11:60565933C>T ENST00000308287.1 + 7 764 c.668C>T c.(667-669)cCg>cTg p.P223L NM_206893.3 NP_996776.2 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 10 223 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 GTGGAGCCCCCGCCATCCTAC 0.562000 9 56 0 0 1 0 0 SLC17A9 63910 broad.mit.edu 37 20 61594048 61594048 + Silent SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr20:61594048C>T ENST00000370349.3 + 6 756 c.552C>T c.(550-552)tcC>tcT p.S184S SLC17A9_ENST00000370351.4_Silent_p.S190S|SLC17A9_ENST00000488738.1_3'UTR Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 190 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 TCTATTTCTCCGGCGGCCTCA 0.637000 13 129 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43523042 43523042 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr19:43523042C>T ENST00000401740.1 - 3 692 c.589G>A c.(589-591)Gaa>Aaa p.E197K PSG11_ENST00000403486.1_Missense_Mutation_p.E75K|PSG11_ENST00000320078.7_Missense_Mutation_p.E197K|PSG11_ENST00000306322.7_Missense_Mutation_p.E75K|PSG11_ENST00000595312.1_5'UTR Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 197 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) CTGTTGGTTTCAGACAGCTGC 0.498000 28 305 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186045577 186045577 + Missense_Mutation SNP A A G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:186045577A>G ENST00000271588.4 + 54 8537 c.8308A>G c.(8308-8310)Aaa>Gaa p.K2770E HMCN1_ENST00000367492.2_Missense_Mutation_p.K2770E NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2770 Ig-like C2-type 26. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AAGTTTTCAGAAACTCTGGGA 0.388000 8 43 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 4 28 0 0 1 0 0 LIN7C 55327 broad.mit.edu 37 11 27520276 27520276 + Nonsense_Mutation SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr11:27520276G>A ENST00000278193.2 - 5 534 c.514C>T c.(514-516)Cga>Tga p.R172* LIN7C_ENST00000524596.1_Nonsense_Mutation_p.R148* NM_018362.3 NP_060832.1 Q9NUP9 LIN7C_HUMAN lin-7 homolog C (C. elegans) 172 PDZ. exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction p.R172*(1) endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 5 GGTGTGTATCGTACCACTAAT 0.393000 9 99 0 0 1 0 0 VSTM2A 222008 broad.mit.edu 37 7 54612423 54612423 + Missense_Mutation SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr7:54612423G>T ENST00000302287.3 + 2 594 c.188G>T c.(187-189)tGg>tTg p.W63L VSTM2A_ENST00000407838.3_Missense_Mutation_p.W63L|VSTM2A_ENST00000404951.1_Missense_Mutation_p.W63L|VSTM2A_ENST00000402026.2_Missense_Mutation_p.W62L|VSTM2A_ENST00000402613.3_Missense_Mutation_p.W63L Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 63 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) GAGATCCAATGGTGGTTCCTG 0.711000 6 28 0.217242 0.217242 1 1 0 PALD1 27143 broad.mit.edu 37 10 72307080 72307080 + Nonsense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr10:72307080C>T ENST00000263563.6 + 18 2408 c.2140C>T c.(2140-2142)Cag>Tag p.Q714* NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 GAAGGTGGTGCAGCTGCTACC 0.592000 43 72 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22729267 22729267 + RNA SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr4:22729267G>A ENST00000511446.1 + 0 61 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGACAGTGGTGAGTTATCTCA 0.413000 34 216 0 0 1 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737878 62737878 + Missense_Mutation SNP C C A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr20:62737878C>A ENST00000369768.1 - 1 646 c.307G>T c.(307-309)Gcg>Tcg p.A103S NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 103 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) AGGTGCTCCGCGATGTTGACG 0.597000 6 42 0.0215528 0.0223157 1 1 0 TCEANC2 127428 broad.mit.edu 37 1 54562017 54562017 + Silent SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:54562017C>T ENST00000234827.1 + 5 698 c.498C>T c.(496-498)ctC>ctT p.L166L TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Silent_p.L196L NM_153035.1 NP_694580.1 Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 166 TFIIS central. transcription, DNA-dependent nucleus DNA binding kidney(1)|lung(3)|pancreas(1) 5 GCTCCCGCCTCATTAATGGGC 0.498000 6 95 0 0 1 0 0 SPINT2 10653 broad.mit.edu 37 19 38774438 38774438 + Splice_Site SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr19:38774438G>T ENST00000301244.7 + 2 712 c.e2+1 SPINT2_ENST00000587090.1_Splice_Site|SPINT2_ENST00000454580.3_Intron NM_021102.3 NP_066925.1 O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ACTGTCACAGGTGAGATGGCA 0.458000 21 47 7.45023e-12 8.89466e-12 1 1 0 KIAA1257 57501 broad.mit.edu 37 3 128706617 128706617 + Missense_Mutation SNP A A G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr3:128706617A>G ENST00000265068.5 - 4 676 c.509T>C c.(508-510)tTt>tCt p.F170S KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.F170S|KIAA1257_ENST00000515659.1_Missense_Mutation_p.F58S NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 170 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 AGTGATATTAAAAGTCTGCTC 0.413000 12 27 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65269385 65269385 + RNA SNP A A G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr11:65269385A>G ENST00000534336.1 + 0 4153 NR_002819.2 GGTTTAGGTAATTGTTTAGTT 0.378000 3 26 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50782414 50782414 + Missense_Mutation SNP C C G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr20:50782414C>G ENST00000216923.4 - 3 786 c.437G>C c.(436-438)tGt>tCt p.C146S ZFP64_ENST00000361387.2_Missense_Mutation_p.C146S|ZFP64_ENST00000371515.4_Missense_Mutation_p.C144S|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000371518.2_Missense_Mutation_p.C146S NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TGGATAGCAACAGTTAAGCCT 0.488000 12 51 0 0 1 0 0 DHRS3 9249 broad.mit.edu 37 1 12677258 12677258 + Silent SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:12677258C>T ENST00000376223.2 - 1 479 c.96G>A c.(94-96)aaG>aaA p.K32K NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 32 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) GGTCCCGCAGCTTGGCGGGCA 0.667000 11 73 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99715611 99715611 + Missense_Mutation SNP T T A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr11:99715611T>A ENST00000524871.1 + 5 595 c.305T>A c.(304-306)gTg>gAg p.V102E CNTN5_ENST00000279463.3_Missense_Mutation_p.V102E|CNTN5_ENST00000528682.1_Missense_Mutation_p.V102E|CNTN5_ENST00000527185.1_Missense_Mutation_p.V102E|CNTN5_ENST00000418526.2_Missense_Mutation_p.V28E NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 102 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCAGTTTTTGTGCAAGAACCA 0.348000 14 44 0 0 1 0 0 PDLIM2 64236 broad.mit.edu 37 8 22449117 22449117 + Missense_Mutation SNP G G T rs141780037 TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr8:22449117G>T ENST00000265810.4 + 8 932 c.817G>T c.(817-819)Gcc>Tcc p.A273S PDLIM2_ENST00000308354.7_Missense_Mutation_p.A523S|PDLIM2_ENST00000339162.7_Intron|PDLIM2_ENST00000397761.2_Missense_Mutation_p.A273S|PDLIM2_ENST00000409417.1_Missense_Mutation_p.A273S|PDLIM2_ENST00000409141.1_Intron|AC037459.4_ENST00000430850.2_Missense_Mutation_p.A67S|PDLIM2_ENST00000397760.4_Missense_Mutation_p.A273S|PDLIM2_ENST00000448520.1_3'UTR NM_176871.3 NP_789847.1 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 (mystique) 273 actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) CTCCCTGCCCGCCTCCAGGGC 0.662000 3 20 0.115264 0.117269 1 1 0 CDKN2AIP 55602 broad.mit.edu 37 4 184367364 184367364 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr4:184367364C>T ENST00000504169.1 + 3 734 c.527C>T c.(526-528)tCa>tTa p.S176L CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 176 Ser-rich. negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GAAAACAGTTCAACGTGTATA 0.468000 7 74 0 0 1 0 0 SWAP70 23075 broad.mit.edu 37 11 9770693 9770693 + Silent SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr11:9770693G>A ENST00000318950.6 + 11 1717 c.1614G>A c.(1612-1614)gtG>gtA p.V538V SWAP70_ENST00000447399.2_Silent_p.V480V NM_015055.2 NP_055870.2 Q9UH65 SWP70_HUMAN SWAP switching B-cell complex 70kDa subunit 538 cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 11 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) AGGACAAAGTGGCCCATCATG 0.338000 5 43 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1879834 1879834 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr5:1879834C>T ENST00000505790.1 - 5 976 c.520G>A c.(520-522)Gag>Aag p.E174K IRX4_ENST00000513692.1_Missense_Mutation_p.E174K|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.E174K NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 174 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) ATGATCTTCTCGCCCTTGGTG 0.637000 7 125 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20990681 20990681 + Missense_Mutation SNP A A T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr16:20990681A>T ENST00000261383.3 - 50 8046 c.8047T>A c.(8047-8049)Ttg>Atg p.L2683M DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2683 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGTTTCTGCAAGCCTGTCAGG 0.522000 25 37 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30948004 30948004 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr8:30948004C>T ENST00000298139.5 + 14 1925 c.1676C>T c.(1675-1677)tCa>tTa p.S559L NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 559 Helicase ATP-binding. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GTGATTCATTCAGTATTAGAA 0.289000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 7 123 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148012531 148012531 + Silent SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:148012531C>T ENST00000369219.1 - 12 1444 c.1428G>A c.(1426-1428)aaG>aaA p.K476K Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 476 NBPF 5. cytoplasm p.K476K(2)|p.K476N(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGCCAACATGCTTTTCCTCCA 0.443000 5 10 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657809 72657809 + RNA SNP T T A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr7:72657809T>A ENST00000425256.1 - 0 2102 NR_002164.1 gatcaggtcatacatctgcgt 0.498000 13 259 0 0 1 0 0 SENP5 205564 broad.mit.edu 37 3 196626846 196626846 + Missense_Mutation SNP A A T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr3:196626846A>T ENST00000323460.5 + 4 1920 c.1671A>T c.(1669-1671)aaA>aaT p.K557N SENP5_ENST00000419026.1_Missense_Mutation_p.K47N|SENP5_ENST00000445299.2_Missense_Mutation_p.K557N NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 557 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) GACATCAAAAATGTAACTTCC 0.363000 13 37 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32624298 32624298 + Missense_Mutation SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr21:32624298G>T ENST00000286827.3 - 6 1642 c.1171C>A c.(1171-1173)Ctg>Atg p.L391M TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.L391M NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 391 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTCATCTCCAGCTCCCGCCGG 0.692000 6 73 0.00116845 0.00126582 1 1 0 ZNF431 170959 broad.mit.edu 37 19 21350417 21350417 + Silent SNP A A G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr19:21350417A>G ENST00000311048.7 + 4 411 c.267A>G c.(265-267)caA>caG p.Q89Q ZNF431_ENST00000599296.1_Silent_p.Q89Q|ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_Silent_p.Q89Q NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 89 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 GTCTGGAGCAAGAAAAAGAGC 0.408000 18 72 0 0 1 0 0 SLC22A20 440044 broad.mit.edu 37 11 65004286 65004286 + RNA SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr11:65004286G>T ENST00000525437.1 + 0 1536 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 AATCCTGGCTGGGCTGGCCGT 0.682000 12 67 4.3838e-07 5.02848e-07 1 1 0 MAPK14 1432 broad.mit.edu 37 6 36043628 36043628 + Silent SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr6:36043628C>T ENST00000229795.3 + 7 946 c.499C>T c.(499-501)Ctg>Ttg p.L167L MAPK14_ENST00000229794.4_Silent_p.L167L|MAPK14_ENST00000310795.4_Silent_p.L167L|MAPK14_ENST00000468133.1_Silent_p.L90L NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 167 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 CCTTTAGATTCTGGATTTTGG 0.448000 8 38 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34243194 34243194 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr20:34243194C>T ENST00000374114.3 - 3 314 c.51G>A c.(49-51)atG>atA p.M17I RBM12_ENST00000374104.3_Missense_Mutation_p.M17I|CPNE1_ENST00000352393.4_5'UTR|RBM12_ENST00000359646.1_Missense_Mutation_p.M17I|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_5'UTR|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_5'UTR|CPNE1_ENST00000397445.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 17 nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GGCGAATGTCCATGGTCCCCG 0.542000 OREG0004046 type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 19 0 0 1 0 0 ZNHIT3 9326 broad.mit.edu 37 17 34849832 34849832 + Missense_Mutation SNP C C G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr17:34849832C>G ENST00000225410.4 + 4 333 c.268C>G c.(268-270)Cag>Gag p.Q90E ZNHIT3_ENST00000592616.1_Missense_Mutation_p.Q90E|ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000490126.2_5'UTR NM_004773.2 NP_004764.1 Q15649 ZNHI3_HUMAN zinc finger, HIT-type containing 3 90 regulation of transcription, DNA-dependent intracellular metal ion binding|thyroid hormone receptor binding lung(1)|pancreas(1)|prostate(1) 3 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0188) AGTTTCTTTGCAGAATTTAAA 0.318000 9 93 0 0 1 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16734057 16734057 + Missense_Mutation SNP A A T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chrY:16734057A>T ENST00000297967.5 + 1 157 c.58A>T c.(58-60)Atg>Ttg p.M20L NLGN4Y_ENST00000476359.1_3'UTR NM_001164238.1 NP_001157710.1 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked 20 brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity large_intestine(3)|lung(7)|prostate(2)|skin(2) 14 TGTCTGTGTCATGTTAAACTC 0.468000 31 15 0 0 1 0 0 LGALS16 148003 broad.mit.edu 37 19 40149108 40149108 + Missense_Mutation SNP C C A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr19:40149108C>A ENST00000392051.3 + 3 169 c.101C>A c.(100-102)cCa>cAa p.P34Q NM_001190441.1 NP_001177370.1 A8MUM7 A8MUM7_HUMAN lectin, galactoside-binding, soluble, 16 34 sugar binding AGCAACGAACCACAGCTGCAG 0.498000 4 12 0.150653 0.151952 1 1 0 DGKG 1608 broad.mit.edu 37 3 185985530 185985530 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr3:185985530C>T ENST00000265022.3 - 13 1692 c.1153G>A c.(1153-1155)Ggt>Agt p.G385S DGKG_ENST00000382164.4_Missense_Mutation_p.G346S|DGKG_ENST00000344484.4_Missense_Mutation_p.G385S|DGKG_ENST00000544847.1_Missense_Mutation_p.G346S NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 385 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AGTTCCCCACCGTCACACAAC 0.517000 7 96 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107651438 107651438 + Missense_Mutation SNP G G C TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr9:107651438G>C ENST00000374736.3 - 3 499 c.105C>G c.(103-105)atC>atG p.I35M ABCA1_ENST00000374733.1_De_novo_Start_InFrame|ABCA1_ENST00000423487.2_Missense_Mutation_p.I35M NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 35 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGATCAGGAAGATAAATAGAG 0.438000 5 50 0 0 1 0 0 HEXA 3073 broad.mit.edu 37 15 72638941 72638941 + Silent SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr15:72638941G>T ENST00000268097.5 - 11 1760 c.1257C>A c.(1255-1257)ccC>ccA p.P419P HEXA_ENST00000457859.2_Intron|HEXA_ENST00000567159.1_Silent_p.P419P|HEXA_ENST00000566304.1_Silent_p.P430P|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Silent_p.P246P|RP11-106M3.2_ENST00000379915.4_RNA NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 419 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity p.P419P(1) breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 TCAGGTACCAGGGGGCAGAGA 0.517000 10 158 0.000442599 0.000488529 1 1 0 RASGEF1A 221002 broad.mit.edu 37 10 43697256 43697256 + Splice_Site SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr10:43697256C>T ENST00000395809.1 - 4 2965 c.459_splice c.e4+1 p.E153_splice RASGEF1A_ENST00000374459.1_Splice_Site_p.E161_splice|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000395810.1_Splice_Site_p.E153_splice Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 153 N-terminal Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 GAGCACTCACCTCATCACACT 0.617000 5 13 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37368460 37368460 + Nonsense_Mutation SNP C C A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr19:37368460C>A ENST00000529555.1 + 2 1516 c.728C>A c.(727-729)tCg>tAg p.S243* ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Nonsense_Mutation_p.S243*|ZNF345_ENST00000420450.1_Nonsense_Mutation_p.S243* Q14585 ZN345_HUMAN zinc finger protein 345 243 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGCAGTGGTTCGGCTCTTACT 0.443000 19 53 6.94344e-10 8.20589e-10 1 1 0 RBBP4 5928 broad.mit.edu 37 1 33138267 33138267 + Silent SNP A A G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:33138267A>G ENST00000373493.5 + 10 1227 c.1068A>G c.(1066-1068)ccA>ccG p.P356P RBBP4_ENST00000414241.3_Silent_p.P355P|RBBP4_ENST00000544435.1_Silent_p.P104P|RBBP4_ENST00000373485.1_Silent_p.P356P|RBBP4_ENST00000458695.2_Silent_p.P321P NM_001135255.1|NM_005610.2 NP_001128727.1|NP_005601.1 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 356 cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) AACAATCCCCAGAAGATGCAG 0.358000 6 35 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58620552 58620552 + Missense_Mutation SNP T T C TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr16:58620552T>C ENST00000317147.5 - 7 866 c.534A>G c.(532-534)atA>atG p.I178M CNOT1_ENST00000569240.1_Missense_Mutation_p.I178M|CNOT1_ENST00000441024.2_Missense_Mutation_p.I178M NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 178 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GTAGGACCTCTATTGCTATAT 0.483000 43 235 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1527480 1527480 + Missense_Mutation SNP C C A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr7:1527480C>A ENST00000389470.4 - 20 2815 c.2816G>T c.(2815-2817)gGg>gTg p.G939V INTS1_ENST00000404767.3_Missense_Mutation_p.G811V Q8N201 INT1_HUMAN integrator complex subunit 1 811 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CGCCAGGTGCCCCTCGAAGGC 0.667000 13 80 0.00136819 0.00146861 1 1 0 AK9 221264 broad.mit.edu 37 6 109983767 109983767 + Missense_Mutation SNP A A G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr6:109983767A>G ENST00000424296.2 - 6 507 c.431T>C c.(430-432)aTa>aCa p.I144T AK9_ENST00000368948.2_Missense_Mutation_p.I144T|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.I144T NM_001145128.2 NP_001138600.2 adenylate kinase 9 TATATTGATTATAACATCAGG 0.274000 9 47 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236734889 236734889 + Missense_Mutation SNP C C G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:236734889C>G ENST00000366582.3 - 27 3919 c.3805G>C c.(3805-3807)Gat>Cat p.D1269H HEATR1_ENST00000366581.2_Missense_Mutation_p.D1188H NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1269 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTGCCACCATCTGGAGATAGT 0.393000 5 70 0 0 1 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281117 49281117 + Missense_Mutation SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr13:49281117G>A ENST00000282018.3 + 1 167 c.164G>A c.(163-165)gGa>gAa p.G55E NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 55 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) GGAGTCTTGGGAAATGGGTTG 0.378000 15 53 0 0 1 0 0 SPEF1 25876 broad.mit.edu 37 20 3761874 3761874 + Missense_Mutation SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr20:3761874G>A ENST00000379756.3 - 1 221 c.61C>T c.(61-63)Cct>Tct p.P21S SPEF1_ENST00000463490.1_5'UTR NM_015417.4 NP_056232.2 Q9Y4P9 SPEF1_HUMAN sperm flagellar 1 21 cilium axoneme|cytoplasm|cytoskeleton cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 CGGGACAGAGGGATGTTGTCT 0.627000 8 47 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55805488 55805488 + Missense_Mutation SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr19:55805488G>A ENST00000309383.1 + 5 839 c.562G>A c.(562-564)Gag>Aag p.E188K BRSK1_ENST00000590333.1_Missense_Mutation_p.E204K|BRSK1_ENST00000585418.1_Missense_Mutation_p.E188K NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 188 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CAGCCTCCTGGAGACCAGCTG 0.612000 9 180 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72346069 72346069 + Missense_Mutation SNP C C G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr18:72346069C>G ENST00000299687.5 + 1 3094 c.3094C>G c.(3094-3096)Cta>Gta p.L1032V ZNF407_ENST00000309902.6_Missense_Mutation_p.L1032V|ZNF407_ENST00000577538.1_Missense_Mutation_p.L1032V|ZNF407_ENST00000582337.1_Missense_Mutation_p.L1032V NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1032 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CTCTGCTTCTCTAGAGCTGCA 0.493000 7 87 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235197 3235197 + Nonsense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chrX:3235197C>T ENST00000217939.6 - 6 6679 c.6525G>A c.(6523-6525)tgG>tgA p.W2175* NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2175 Ig-like C2-type 6. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGATGCGCGGCCAGGGGTCCC 0.677000 5 5 0 0 1 0 0 ASNSD1 54529 broad.mit.edu 37 2 190531771 190531771 + Nonsense_Mutation SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr2:190531771G>T ENST00000260952.4 + 4 1326 c.913G>T c.(913-915)Gaa>Taa p.E305* ASNSD1_ENST00000607062.1_Intron NM_019048.2 NP_061921.1 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 305 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) ACCTAGGGATGAAAACCTGAC 0.403000 26 208 1.17739e-12 1.42015e-12 1 1 0 GALNT16 57452 broad.mit.edu 37 14 69814736 69814736 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr14:69814736C>T ENST00000553669.1 + 14 1556 c.1556C>T c.(1555-1557)tCt>tTt p.S519F GALNT16_ENST00000448469.3_Intron|GALNT16_ENST00000337827.4_Intron UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 CTCCTTGCCTCTGGCCCAGAG 0.602000 6 38 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8421438 8421438 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:8421438C>T ENST00000337907.3 - 19 2763 c.2129G>A c.(2128-2130)aGc>aAc p.S710N RERE_ENST00000400908.2_Missense_Mutation_p.S710N|RERE_ENST00000377464.1_Missense_Mutation_p.S442N|RERE_ENST00000476556.1_Missense_Mutation_p.S156N|RERE_ENST00000400907.2_Intron NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 710 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CGGGGACGTGCTGCGATTGTC 0.617000 12 55 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66879937 66879937 + Missense_Mutation SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr17:66879937G>T ENST00000269080.2 - 27 3719 c.3582C>A c.(3580-3582)ttC>ttA p.F1194L ABCA8_ENST00000586539.1_Missense_Mutation_p.F1234L|ABCA8_ENST00000430352.2_Missense_Mutation_p.F1234L NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1194 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CCAACCTAAAGAAAGGATCCT 0.303000 7 25 0.00448238 0.00472467 1 1 0 MTMR11 10903 broad.mit.edu 37 1 149901551 149901551 + Nonsense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:149901551C>T ENST00000439741.2 - 16 2155 c.1905G>A c.(1903-1905)tgG>tgA p.W635* MTMR11_ENST00000369140.3_Nonsense_Mutation_p.W563*|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 635 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) AGCAGCGTCTCCAGAGCCTGA 0.582000 9 183 0 0 1 0 0 ACAD8 27034 broad.mit.edu 37 11 134126982 134126982 + Splice_Site SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr11:134126982G>A ENST00000281182.4 + 3 317 c.210_splice c.e3-1 p.E71_splice ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000543332.1_Intron|ACAD8_ENST00000537423.1_5'UTR|ACAD8_ENST00000374752.4_Intron NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 71 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) TTGTACATAGGAGCTGTTCCC 0.552000 6 78 0 0 1 0 0 IL2RA 3559 broad.mit.edu 37 10 6067955 6067955 + Missense_Mutation SNP T T A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr10:6067955T>A ENST00000379959.3 - 2 271 c.98A>T c.(97-99)cAc>cTc p.H33L IL2RA_ENST00000379954.1_Missense_Mutation_p.H33L|RP11-536K7.5_ENST00000440436.1_RNA|IL2RA_ENST00000256876.6_Missense_Mutation_p.H33L NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 33 Sushi 1. cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GAATGTGGCGTGTGGGATCTC 0.478000 28 36 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110587689 110587689 + Missense_Mutation SNP C C G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr8:110587689C>G ENST00000399066.3 - 6 2156 c.1429G>C c.(1429-1431)Ggc>Cgc p.G477R SYBU_ENST00000533895.1_Missense_Mutation_p.G479R|SYBU_ENST00000419099.1_Missense_Mutation_p.G479R|SYBU_ENST00000422135.1_Missense_Mutation_p.G480R|SYBU_ENST00000440310.1_Missense_Mutation_p.G480R|SYBU_ENST00000408908.2_Missense_Mutation_p.G480R|SYBU_ENST00000533171.1_Missense_Mutation_p.G480R|SYBU_ENST00000528647.1_Missense_Mutation_p.G479R|SYBU_ENST00000408889.3_Missense_Mutation_p.G361R|SYBU_ENST00000433638.1_Missense_Mutation_p.G480R|SYBU_ENST00000424158.2_Missense_Mutation_p.G485R|SYBU_ENST00000529690.1_Missense_Mutation_p.G350R|SYBU_ENST00000528331.1_Missense_Mutation_p.G361R|SYBU_ENST00000446070.2_Missense_Mutation_p.G479R|SYBU_ENST00000532779.1_Missense_Mutation_p.G412R|SYBU_ENST00000533065.1_Missense_Mutation_p.G361R|SYBU_ENST00000276646.9_Missense_Mutation_p.G480R|SYBU_ENST00000529175.1_Missense_Mutation_p.G274R NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 480 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 ACCACACTGCCCTCCTCCTGA 0.612000 11 73 0 0 1 0 0 NEDD1 121441 broad.mit.edu 37 12 97331052 97331052 + Missense_Mutation SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr12:97331052G>A ENST00000266742.4 + 9 1337 c.998G>A c.(997-999)gGa>gAa p.G333E NEDD1_ENST00000557644.1_Missense_Mutation_p.G340E|NEDD1_ENST00000457368.2_Missense_Mutation_p.G244E|NEDD1_ENST00000411739.2_Missense_Mutation_p.G244E|NEDD1_ENST00000429527.2_Missense_Mutation_p.G333E NM_152905.3 NP_690869.1 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally down-regulated 1 333 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 GCTGCTAGTGGAGGAGTTCAG 0.408000 8 84 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111509639 111509639 + Missense_Mutation SNP C C A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr7:111509639C>A ENST00000428084.1 - 21 2372 c.2100G>T c.(2098-2100)gaG>gaT p.E700D DOCK4_ENST00000437633.1_Missense_Mutation_p.E700D|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 700 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CCTTCAGCACCTCCTGGATAT 0.438000 4 40 0.014758 0.0154168 1 1 0 LY75 4065 broad.mit.edu 37 2 160673443 160673443 + Silent SNP T T A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr2:160673443T>A ENST00000263636.4 - 30 4281 c.4254A>T c.(4252-4254)gcA>gcT p.A1418A LY75_ENST00000553424.1_Silent_p.A1418A|LY75-CD302_ENST00000505052.1_Silent_p.A1418A|LY75-CD302_ENST00000504764.1_Silent_p.A1418A|LY75_ENST00000554112.1_Silent_p.A1418A NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) ACATGTTTAATGCTTCATACC 0.368000 22 57 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586291 20586291 + Missense_Mutation SNP C C G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr14:20586291C>G ENST00000315543.4 + 1 726 c.726C>G c.(724-726)ttC>ttG p.F242L NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TGAGCTGTTTCATTATTTTGC 0.418000 66 79 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72680525 72680525 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr12:72680525C>T ENST00000261180.4 + 2 940 c.844C>T c.(844-846)Cca>Tca p.P282S NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 282 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTTTGATGAGCCAATCTACAA 0.373000 14 99 0 0 1 0 0 BDH1 622 broad.mit.edu 37 3 197241159 197241159 + Missense_Mutation SNP G G C TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr3:197241159G>C ENST00000392379.1 - 7 939 c.538C>G c.(538-540)Ctc>Gtc p.L180V BDH1_ENST00000392378.2_Missense_Mutation_p.L180V|BDH1_ENST00000441275.1_Missense_Mutation_p.L93V|BDH1_ENST00000358186.2_Missense_Mutation_p.L180V NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 180 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) ATGAGGGGGAGAAAGGATTTC 0.562000 9 30 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26888076 26888076 + Missense_Mutation SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr22:26888076C>T ENST00000407690.1 - 15 2700 c.2417G>A c.(2416-2418)cGc>cAc p.R806H TFIP11_ENST00000405938.1_Missense_Mutation_p.R806H|TFIP11_ENST00000407431.1_Missense_Mutation_p.R806H|TFIP11_ENST00000407148.1_Missense_Mutation_p.R806H NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 806 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 GATCACAATGCGGCCAAAGGT 0.547000 3 19 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846450 43846450 + Silent SNP T T C TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr12:43846450T>C ENST00000389420.3 - 13 1808 c.1809A>G c.(1807-1809)cgA>cgG p.R603R ADAMTS20_ENST00000553158.1_Silent_p.R603R NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 603 TSP type-1 1. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TATTACATGATCGAAATTTCA 0.398000 5 25 0 0 1 0 0 USP20 10868 broad.mit.edu 37 9 132632069 132632069 + Missense_Mutation SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr9:132632069G>A ENST00000315480.4 + 14 1669 c.1511G>A c.(1510-1512)gGg>gAg p.G504E USP20_ENST00000372429.3_Missense_Mutation_p.G504E|USP20_ENST00000358355.1_Missense_Mutation_p.G504E Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 504 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) GGCGCCTGTGGGGACAGCTAT 0.622000 22 63 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 55768825 55768825 + Silent SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr3:55768825G>T ENST00000288221.6 - 15 2941 c.2686C>A c.(2686-2688)Cga>Aga p.R896R NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 896 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TGTACTAGTCGGTCTTTTTCC 0.478000 3 22 0.115264 0.117269 1 1 0 CCHCR1 54535 broad.mit.edu 37 6 31118624 31118624 + Missense_Mutation SNP C C G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr6:31118624C>G ENST00000396268.3 - 6 1167 c.979G>C c.(979-981)Gac>Cac p.D327H CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Missense_Mutation_p.D238H|CCHCR1_ENST00000451521.2_Missense_Mutation_p.D291H|CCHCR1_ENST00000396263.2_Missense_Mutation_p.D238H NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 238 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 GCCTCCAAGTCTTCCTGGGTC 0.567000 29 196 0 0 1 0 0 MYL9 10398 broad.mit.edu 37 20 35176517 35176517 + Missense_Mutation SNP G G T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr20:35176517G>T ENST00000279022.2 + 3 371 c.267G>T c.(265-267)atG>atT p.M89I RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Intron NM_006097.4 NP_006088.2 P24844 MYL9_HUMAN myosin, light chain 9, regulatory 89 axon guidance|muscle contraction|regulation of muscle contraction cytosol|muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(3)|lung(2) 8 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TCCTCACCATGTTTGGGGAGA 0.617000 9 41 7.48243e-07 8.41773e-07 1 1 0 MEIS1 4211 broad.mit.edu 37 2 66739372 66739372 + Silent SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr2:66739372C>T ENST00000488550.1 + 8 1133 c.834C>T c.(832-834)atC>atT p.I278I MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000407092.2_Silent_p.I278I|MEIS1_ENST00000398506.2_Silent_p.I276I|MEIS1_ENST00000495021.2_Silent_p.I213I|MEIS1_ENST00000560281.2_Silent_p.I278I|MEIS1_ENST00000272369.9_Silent_p.I278I|MEIS1_ENST00000444274.2_Intron O00470 MEIS1_HUMAN Meis homeobox 1 278 sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 AGCGTGGCATCTTTCCCAAAG 0.438000 4 23 0 0 1 0 0 IFT81 28981 broad.mit.edu 37 12 110581239 110581239 + Silent SNP T T A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr12:110581239T>A ENST00000242591.5 + 9 1340 c.834T>A c.(832-834)acT>acA p.T278T IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000361948.4_Silent_p.T278T|IFT81_ENST00000552912.1_Silent_p.T278T NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 278 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 ATATGGTAACTGAAAAATTTC 0.284000 8 26 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142498902 142498902 + RNA SNP C C T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr7:142498902C>T ENST00000466254.1 + 0 178 AGCACAGACCCGCAGCCCCTC 0.652000 8 105 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50664767 50664767 + Missense_Mutation SNP C C G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr22:50664767C>G ENST00000439308.2 - 8 2134 c.1642G>C c.(1642-1644)Gct>Cct p.A548P TUBGCP6_ENST00000248846.5_Missense_Mutation_p.A548P NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 548 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCGCCATAAGCGTCTCTGAAC 0.612000 11 17 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137777146 137777146 + Missense_Mutation SNP C C G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr9:137777146C>G ENST00000350339.2 + 4 263 c.249C>G c.(247-249)atC>atG p.I83M FCN2_ENST00000291744.6_Missense_Mutation_p.I121M NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 121 Collagen-like. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GGCACACCATCTACCTGCCCG 0.677000 5 38 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451567 55451567 + Missense_Mutation SNP G G A TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr19:55451567G>A ENST00000446217.1 - 6 1106 c.704C>T c.(703-705)gCg>gTg p.A235V NLRP7_ENST00000448121.2_Missense_Mutation_p.A207V|NLRP7_ENST00000340844.2_Missense_Mutation_p.A207V|NLRP7_ENST00000328092.5_Missense_Mutation_p.A207V|NLRP7_ENST00000592784.1_Missense_Mutation_p.A207V|NLRP7_ENST00000590030.1_Missense_Mutation_p.A207V|NLRP7_ENST00000588756.1_Missense_Mutation_p.A207V Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 207 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GAGGTAGAACGCGTATCTGAG 0.587000 24 61 0 0 1 0 0 HMGCS1 3157 broad.mit.edu 37 5 43292578 43292578 + Missense_Mutation SNP C C G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr5:43292578C>G ENST00000325110.6 - 10 1677 c.1471G>C c.(1471-1473)Gag>Cag p.E491Q HMGCS1_ENST00000433297.2_Missense_Mutation_p.E491Q NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 491 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 TTATTTACCTCAGTTGCTATG 0.418000 4 53 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90321635 90321635 + Missense_Mutation SNP A A C TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr9:90321635A>C ENST00000469640.2 + 27 4099 c.3724A>C c.(3724-3726)Agc>Cgc p.S1242R DAPK1_ENST00000358077.5_Missense_Mutation_p.S1217R|DAPK1_ENST00000491893.1_Missense_Mutation_p.S1151R|DAPK1_ENST00000472284.1_Missense_Mutation_p.S1217R|DAPK1_ENST00000408954.3_Missense_Mutation_p.S1217R P53355 DAPK1_HUMAN death-associated protein kinase 1 1217 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CTCGGTGTGCAGCACCATTGA 0.637000 Chronic Lymphocytic Leukemia, Familial Clustering of 5 37 0 0 1 0 0 IFNA17 3451 broad.mit.edu 37 9 21227650 21227650 + Missense_Mutation SNP G G A rs143565460 byFrequency TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr9:21227650G>A ENST00000413767.2 - 1 571 c.523C>T c.(523-525)Ctc>Ttc p.L175F NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 175 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GAAAAAGAGAGAGATCTCATG 0.383000 50 82 0 0 1 0 0 SGSM3 27352 broad.mit.edu 37 22 40803490 40803490 + Missense_Mutation SNP A A T TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr22:40803490A>T ENST00000248929.9 + 13 1631 c.1442A>T c.(1441-1443)cAc>cTc p.H481L SGSM3_ENST00000454798.2_Missense_Mutation_p.H414L NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 481 SH3. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 TCACGCAGCCACCGGCGCCGA 0.637000 17 17 0 0 1 0 0 LOC100288069 100288069 broad.mit.edu 37 1 700514 700514 + RNA DEL A A - TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr1:700514delA ENST00000428504.1 - 0 1039 NR_033908.1 actccatctcaaaaaaaaaaa 0.453 3 4 --- --- --- --- ZEB1 6935 broad.mit.edu 37 10 31810011 31810011 + Frame_Shift_Del DEL C C - TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr10:31810011delC ENST00000446923.2 + 7 2091 c.1700delC c.(1699-1701)ttfs p.S567fs ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Frame_Shift_Del_p.S583fs|ZEB1_ENST00000361642.5_Frame_Shift_Del_p.S584fs|ZEB1_ENST00000542815.3_Frame_Shift_Del_p.S516fs|ZEB1_ENST00000560721.2_Frame_Shift_Del_p.S563fs NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 583 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GGCAATTTGTCTCCTAGTCAG 0.458 19 47 --- --- --- --- EXOSC1 51013 broad.mit.edu 37 10 99203050 99203050 + Frame_Shift_Del DEL C C - rs111511939 byFrequency TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr10:99203050delC ENST00000370902.3 - 3 197 c.166delG c.(166-168)tgfs p.V56fs EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000370886.5_Frame_Shift_Del_p.V56fs|EXOSC1_ENST00000485122.2_Frame_Shift_Del_p.V56fs|EXOSC1_ENST00000471049.1_5'UTR NM_016046.3 NP_057130.1 Q9Y3B2 EXOS1_HUMAN exosome component 1 56 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus protein binding|RNA binding breast(1)|endometrium(1)|lung(5) 7 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) GTTTCTCTCACTACAGACACC 0.448 8 152 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 6 7 --- --- --- --- IGLC2 3538 broad.mit.edu 37 22 23243490 23243490 + RNA DEL C C - rs67516365 TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e9f8f93-c0c2-4a5f-8a25-1122122d8ec2 6503c1b2-2d9b-4e0a-aad9-130f513be0ee g.chr22:23243490delC ENST00000390323.2 + 0 335 TCAACCCTCACCCCCCACCAC 0.587 2 4 --- --- --- ---