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 LRRC37A6P 387646 broad.mit.edu 37 10 27538842 27538842 + RNA SNP G G T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr10:27538842G>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA AGTCTCAGCTGGGGCCTCCTG 0.517000 40 80 2.32173e-10 2.52362e-10 1 1 0 DOCK7 85440 broad.mit.edu 37 1 63018486 63018486 + Nonsense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:63018486G>A ENST00000251157.5 - 22 2716 c.2683C>T c.(2683-2685)Cga>Tga p.R895* DOCK7_ENST00000340370.5_Nonsense_Mutation_p.R895* NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 895 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CTAAGGCTTCGAGAACGATTT 0.453000 13 36 0 0 1 0 0 C16orf72 29035 broad.mit.edu 37 16 9210584 9210584 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr16:9210584C>T ENST00000327827.7 + 4 1040 c.643C>T c.(643-645)Cat>Tat p.H215Y NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 215 endometrium(4)|large_intestine(2)|lung(2) 8 CTCTCCTACACATGTAAGCAG 0.433000 24 98 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49094798 49094798 + Missense_Mutation SNP A A G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:49094798A>G ENST00000261900.3 - 4 653 c.431T>C c.(430-432)tTa>tCa p.L144S NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 144 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AAACTTACCTAAAGTCTGCAA 0.279000 6 28 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207200887 207200887 + Silent SNP G G T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:207200887G>T ENST00000359470.5 - 2 306 c.57C>A c.(55-57)gtC>gtA p.V19V C1orf116_ENST00000461135.2_Intron NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 19 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) CACAGCTGCCGACACGGGTCA 0.622000 7 88 0.00621372 0.00634053 1 1 0 HYPK 25764 broad.mit.edu 37 15 44093763 44093763 + Missense_Mutation SNP T T A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr15:44093763T>A ENST00000406925.1 + 4 4401 c.290T>A c.(289-291)cTa>cAa p.L97Q SERF2_ENST00000594896.1_Missense_Mutation_p.L143Q|HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000458412.1_Silent_p.A78A|HYPK_ENST00000442995.2_Missense_Mutation_p.L97Q|SERF2_ENST00000600633.1_Missense_Mutation_p.L97Q huntingtin interacting protein K all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;8.1e-07) GATCTGGAGCTAATAGTGAGT 0.403000 4 47 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32417947 32417947 + Nonsense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr11:32417947G>A ENST00000332351.3 - 7 1389 c.1105C>T c.(1105-1107)Cga>Tga p.R369* WT1_ENST00000448076.3_Nonsense_Mutation_p.R369*|WT1_ENST00000530998.1_Nonsense_Mutation_p.R140*|WT1_ENST00000379079.2_Nonsense_Mutation_p.R157* NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 301 Important for interaction with target DNA. Q -> P (in DDS). adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.R301*(5)|p.R301fs*16(5)|p.R301fs*7(5)|p.?(3)|p.R302fs*15(3)|p.R301fs*8(2)|p.R301fs*3(1)|p.R301fs*11(1)|p.R301fs*17(1)|p.V300fs*6(1)|p.R301fs*19(1)|p.R301fs*6(1)|p.D299fs*15(1)|p.R301fs*73(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GGCACACGTCGCACATCCTGC 0.522000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 13 28 0 0 1 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75065546 75065546 + Missense_Mutation SNP G G T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr4:75065546G>T ENST00000395759.2 + 4 514 c.487G>T c.(487-489)Gcc>Tcc p.A163S MTHFD2L_ENST00000433372.1_Missense_Mutation_p.A28S|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.A105S|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.A105S NM_001144978.1 NP_001138450.1 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 105 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) CAATGGAATTGCCCCAGAAAA 0.343000 18 50 5.35267e-07 5.72478e-07 1 1 0 COL4A5 1287 broad.mit.edu 37 X 107829872 107829872 + Missense_Mutation SNP A A G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chrX:107829872A>G ENST00000328300.6 + 19 1304 c.1060A>G c.(1060-1062)Act>Gct p.T354A COL4A5_ENST00000361603.2_Missense_Mutation_p.T354A NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 354 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GACTGGTATAACTATAGGAGA 0.423000 Alport syndrome with Diffuse Leiomyomatosis 27 32 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62378317 62378317 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr20:62378317C>T ENST00000245663.4 - 5 1886 c.1736G>A c.(1735-1737)gGa>gAa p.G579E ZBTB46_ENST00000302995.2_Missense_Mutation_p.G579E|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G579E NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GTCAGGGCCTCCTGGGGGGCT 0.716000 3 5 0 0 1 0 0 CRX 1406 broad.mit.edu 37 19 48339631 48339631 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:48339631C>G ENST00000221996.7 + 3 438 c.232C>G c.(232-234)Ctg>Gtg p.L78V TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.L78V NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 78 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) GAAGATCAATCTGCCTGAGTC 0.607000 9 41 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31617900 31617900 + Missense_Mutation SNP C C A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr7:31617900C>A ENST00000409210.1 + 6 930 c.746C>A c.(745-747)tCt>tAt p.S249Y CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.S341Y|CCDC129_ENST00000451887.2_Missense_Mutation_p.S367Y Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 341 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 CCTTGCTCATCTATGCCGGCC 0.498000 4 23 1 1 1 1 0 DEF8 54849 broad.mit.edu 37 16 90016039 90016039 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr16:90016039G>A ENST00000268676.7 + 2 255 c.166G>A c.(166-168)Gag>Aag p.E56K DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000418391.2_Intron|DEF8_ENST00000563594.1_Intron NM_207514.2 NP_997397.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 56 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CAGGACGCGGGAGGCCAGGTC 0.667000 17 36 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47278812 47278812 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:47278812G>A ENST00000542575.2 - 8 2209 c.1581C>T c.(1579-1581)ccC>ccT p.P527P SLC1A5_ENST00000434726.2_Silent_p.P325P|SLC1A5_ENST00000412532.2_Silent_p.P299P|SLC1A5_ENST00000594991.1_Silent_p.P351P|FKRP_ENST00000600646.1_Intron NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 527 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) CATCCCCTGCGGGCCCCCGAT 0.597000 38 145 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55406478 55406478 + Silent SNP T T C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr11:55406478T>C ENST00000314612.2 + 1 645 c.645T>C c.(643-645)tcT>tcC p.S215S NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TGTTGTTGTCTTATGTTTTTA 0.378000 18 52 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148869524 148869524 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr6:148869524C>G ENST00000367467.3 + 20 4049 c.3574C>G c.(3574-3576)Ccc>Gcc p.P1192A NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1192 SAM 2. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CATCGGTCTGCCCATGTACGC 0.572000 22 54 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99442718 99442718 + Missense_Mutation SNP C C T rs147236845 TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr15:99442718C>T ENST00000268035.6 + 5 1726 c.1115C>T c.(1114-1116)tCa>tTa p.S372L IGF1R_ENST00000558762.1_Missense_Mutation_p.S372L NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 372 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) AACATTGCTTCAGAGCTGGAG 0.458000 23 45 0 0 1 0 0 OR10H5 284433 broad.mit.edu 37 19 15905407 15905407 + Silent SNP T T C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:15905407T>C ENST00000308940.8 + 1 647 c.549T>C c.(547-549)ccT>ccC p.P183P NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 ACGTGCCACCTCTGTTGAAGT 0.577000 7 75 0 0 1 0 0 CHP2 63928 broad.mit.edu 37 16 23768600 23768600 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr16:23768600G>A ENST00000300113.2 + 6 916 c.493G>A c.(493-495)Gat>Aat p.D165N NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 165 EF-hand 4. calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) GCAGGAGGCTGATGAAGATGG 0.567000 15 40 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67800669 67800669 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr13:67800669C>G ENST00000544246.1 - 2 2595 c.1904G>C c.(1903-1905)aGa>aCa p.R635T PCDH9_ENST00000377865.2_Missense_Mutation_p.R635T|PCDH9_ENST00000377861.3_Missense_Mutation_p.R635T|PCDH9_ENST00000328454.5_Missense_Mutation_p.R635T|PCDH9_ENST00000456367.1_Missense_Mutation_p.R635T NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 635 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CTGCTGCTCTCTATCAAATGA 0.403000 22 70 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219520928 219520928 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:219520928G>A ENST00000411696.2 - 3 1004 c.225C>T c.(223-225)atC>atT p.I75I ZNF142_ENST00000449707.1_Silent_p.I75I P52746 ZN142_HUMAN zinc finger protein 142 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TCTCCACAATGATCTCCATGT 0.592000 8 43 0 0 1 0 0 AURKAIP1 54998 broad.mit.edu 37 1 1309521 1309521 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:1309521G>A ENST00000338370.3 - 2 757 c.357C>T c.(355-357)gtC>gtT p.V119V AURKAIP1_ENST00000321751.5_Silent_p.V119V|AURKAIP1_ENST00000338338.5_Silent_p.V119V|AURKAIP1_ENST00000378853.3_Silent_p.V119V Q9NWT8 AKIP_HUMAN aurora kinase A interacting protein 1 119 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding kidney(1)|lung(2) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCGCATCCGCGACGCCTTCAT 0.612000 28 55 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130854238 130854238 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr9:130854238G>C ENST00000373066.5 + 1 496 c.89G>C c.(88-90)aGa>aCa p.R30T SLC25A25_ENST00000432073.2_Missense_Mutation_p.R30T|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000373068.2_Intron|RP11-379C10.4_ENST00000453870.1_RNA NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 0 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 CGTGAAGTCAGAGGCACCCCA 0.582000 27 161 0 0 1 0 0 ZNF572 137209 broad.mit.edu 37 8 125988597 125988597 + Silent SNP A A T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:125988597A>T ENST00000319286.5 + 3 241 c.87A>T c.(85-87)acA>acT p.T29T NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CAGGAGATACAAGTATGAATA 0.328000 HNSCC(60;0.17) 11 70 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18963799 18963799 + Nonsense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:18963799C>T ENST00000262803.5 + 7 1248 c.976C>T c.(976-978)Caa>Taa p.Q326* UPF1_ENST00000599848.1_Nonsense_Mutation_p.Q326* NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 326 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 TGCTCAGACTCAAGATAACAT 0.552000 17 52 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235922444 235922444 + Nonsense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:235922444G>A ENST00000389794.3 - 23 6883 c.6709C>T c.(6709-6711)Cag>Tag p.Q2237* LYST_ENST00000389793.2_Nonsense_Mutation_p.Q2237* Q99698 LYST_HUMAN lysosomal trafficking regulator 2237 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGGCTTCGCTGGAAGGAGGCC 0.527000 37 53 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99799430 99799430 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr7:99799430C>G ENST00000426455.1 + 22 2649 c.2242C>G c.(2242-2244)Ctt>Gtt p.L748V STAG3_ENST00000394018.2_Missense_Mutation_p.L690V|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.L748V Q9UJ98 STAG3_HUMAN stromal antigen 3 748 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCCTTGACTCTTGTCTATTT 0.448000 21 88 0 0 1 0 0 CDKN3 1033 broad.mit.edu 37 14 54868294 54868294 + Missense_Mutation SNP C C A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr14:54868294C>A ENST00000541304.1 + 3 185 c.145C>A c.(145-147)Cca>Aca p.P49T CDKN3_ENST00000442975.2_Intron|CDKN3_ENST00000556102.2_Missense_Mutation_p.P49T|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000458126.2_Missense_Mutation_p.P49T|CDKN3_ENST00000335183.6_Missense_Mutation_p.P49T|CDKN3_ENST00000543789.2_Missense_Mutation_p.P49T Q16667 CDKN3_HUMAN cyclin-dependent kinase inhibitor 3 49 cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity perinuclear region of cytoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(2)|stomach(1) 3 ATGTGCTCTTCCAGGTGGGTA 0.328000 15 44 1.01871e-10 1.11946e-10 1 1 0 PTPRK 5796 broad.mit.edu 37 6 128385918 128385918 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr6:128385918G>A ENST00000368227.3 - 13 2545 c.2179C>T c.(2179-2181)Cgc>Tgc p.R727C PTPRK_ENST00000368226.4_Missense_Mutation_p.R727C|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Missense_Mutation_p.R727C|PTPRK_ENST00000368207.3_Missense_Mutation_p.R727C|PTPRK_ENST00000368215.3_Missense_Mutation_p.R727C|PTPRK_ENST00000368210.3_Missense_Mutation_p.R727C|PTPRK_ENST00000368213.5_Missense_Mutation_p.R727C|PTPRK_ENST00000524481.1_5'UTR Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 727 cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GTAGCAATGCGTACGCACTGG 0.343000 6 25 0 0 1 0 0 SLC18A2 6571 broad.mit.edu 37 10 119015147 119015147 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr10:119015147C>T ENST00000298472.5 + 9 1017 c.874C>T c.(874-876)Ccg>Tcg p.P292S SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 292 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) GCTGAAGGACCCGTACATCCT 0.612000 5 23 0 0 1 0 0 AMOTL2 51421 broad.mit.edu 37 3 134089642 134089642 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr3:134089642G>C ENST00000514516.1 - 2 986 c.808C>G c.(808-810)Cag>Gag p.Q270E AMOTL2_ENST00000513145.1_Missense_Mutation_p.Q212E|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000422605.2_Missense_Mutation_p.Q212E|AMOTL2_ENST00000249883.5_Missense_Mutation_p.Q212E NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 212 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 TGAGGGTACTGAGGTGGGGGT 0.662000 20 57 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98823366 98823366 + Missense_Mutation SNP G G T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr10:98823366G>T ENST00000266058.4 - 8 884 c.639C>A c.(637-639)caC>caA p.H213Q ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.H213Q|SLIT1_ENST00000371070.4_Missense_Mutation_p.H213Q NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 213 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGTGGTTGGAGTGCAGGCGGC 0.652000 3 16 6.4e-05 6.70157e-05 1 1 0 LIPI 149998 broad.mit.edu 37 21 15538724 15538724 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr21:15538724C>G ENST00000344577.2 - 5 780 c.755G>C c.(754-756)gGa>gCa p.G252A LIPI_ENST00000536861.1_Missense_Mutation_p.G231A NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 231 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTTATTTCCTCCATTTGGATA 0.338000 20 45 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16977298 16977298 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:16977298C>G ENST00000379803.1 + 13 1847 c.1833C>G c.(1831-1833)ttC>ttG p.F611L SIN3B_ENST00000595541.1_Missense_Mutation_p.F169L|SIN3B_ENST00000248054.5_Missense_Mutation_p.F579L NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 611 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 CTGTGAACTTCAAGCAGAACG 0.597000 18 72 0 0 1 0 0 LIMS2 55679 broad.mit.edu 37 2 128396899 128396899 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:128396899G>A ENST00000409455.1 - 10 1603 c.968C>T c.(967-969)tCc>tTc p.S323F LIMS2_ENST00000545738.2_Missense_Mutation_p.S350F|LIMS2_ENST00000409808.2_Missense_Mutation_p.S323F|LIMS2_ENST00000409286.1_Missense_Mutation_p.S176F|LIMS2_ENST00000409754.1_Missense_Mutation_p.S176F|LIMS2_ENST00000324938.5_Missense_Mutation_p.S352F|LIMS2_ENST00000409254.1_Missense_Mutation_p.S176F|LIMS2_ENST00000410038.1_Missense_Mutation_p.S176F|LIMS2_ENST00000355119.4_Missense_Mutation_p.S328F|LIMS2_ENST00000410011.1_Missense_Mutation_p.S323F|LIMS2_ENST00000494613.1_5'UTR Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 328 cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) GGCCTTGCGGGAGGTCAGCTC 0.612000 28 86 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214791936 214791936 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:214791936G>C ENST00000366955.3 + 4 548 c.380G>C c.(379-381)aGa>aCa p.R127T NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 127 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GAGCTTGAAAGAAGCCAACAA 0.403000 44 59 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104161068 104161068 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr10:104161068G>A ENST00000369966.3 + 19 2453 c.2203G>A c.(2203-2205)Gac>Aac p.D735N NFKB2_ENST00000189444.6_Missense_Mutation_p.D735N|NFKB2_ENST00000428099.1_Missense_Mutation_p.D735N NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 735 Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT). innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) CACGCCTCTTGACCTCACTTG 0.597000 T IGH@ B-NHL 24 56 0 0 1 0 0 IQCK 124152 broad.mit.edu 37 16 19745024 19745024 + Missense_Mutation SNP C C A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr16:19745024C>A ENST00000320394.6 + 4 950 c.251C>A c.(250-252)gCg>gAg p.A84E IQCK_ENST00000541926.1_Missense_Mutation_p.A84E|IQCK_ENST00000433597.2_5'UTR|IQCK_ENST00000564186.1_Missense_Mutation_p.A84E NM_153208.1 NP_694940.1 Q8N0W5 IQCK_HUMAN IQ motif containing K 84 kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 CTCCAGGTTGCGCCAGTAGAG 0.423000 24 81 3.01185e-09 3.23855e-09 1 1 0 EPS15 2060 broad.mit.edu 37 1 51864782 51864782 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:51864782G>C ENST00000371733.3 - 20 2070 c.1974C>G c.(1972-1974)ttC>ttG p.F658L EPS15_ENST00000396122.4_Missense_Mutation_p.F335L|EPS15_ENST00000371730.2_Missense_Mutation_p.F524L NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 658 15 X 3 AA repeats of D-P-F. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 ATTGCCTGAAGAAACAGTCTG 0.373000 T MLL ALL 18 62 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457400 110457400 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:110457400G>A ENST00000378402.5 + 38 5406 c.5302G>A c.(5302-5304)Gaa>Aaa p.E1768K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1768 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTTCTTATTGAAGGAGAAGG 0.403000 HNSCC(38;0.096) 16 75 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130536747 130536747 + Splice_Site SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr9:130536747C>G ENST00000314830.8 - 2 151 c.e2-1 NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTGAAGAACTCTAGCAGAGGG 0.478000 6 40 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70476248 70476248 + Missense_Mutation SNP T T G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:70476248T>G ENST00000260128.4 + 5 755 c.38T>G c.(37-39)cTg>cGg p.L13R SULF1_ENST00000402687.4_Missense_Mutation_p.L13R|SULF1_ENST00000419716.3_Missense_Mutation_p.L13R|SULF1_ENST00000458141.2_Missense_Mutation_p.L13R NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 13 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTGGCTGTCCTGGGCACAGAA 0.468000 20 34 0 0 1 0 0 DEPDC1 55635 broad.mit.edu 37 1 68954653 68954653 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:68954653C>G ENST00000456315.2 - 4 650 c.536G>C c.(535-537)aGa>aCa p.R179T DEPDC1_ENST00000370966.5_Missense_Mutation_p.R179T NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 179 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) GCTTAGTTCTCTATTATCAAT 0.299000 11 41 0 0 1 0 0 TRDMT1 1787 broad.mit.edu 37 10 17199512 17199512 + Nonsense_Mutation SNP G G T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr10:17199512G>T ENST00000377799.3 - 8 862 c.815C>A c.(814-816)tCa>tAa p.S272* TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.S248*|TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.S226*|TRDMT1_ENST00000488990.1_Nonsense_Mutation_p.S149*|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.S191* NM_004412.5 NP_004403.1 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 272 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 TCGCAGCAATGACTTTGGTGG 0.393000 14 51 9.05144e-12 1.00016e-11 1 1 0 CDH18 1016 broad.mit.edu 37 5 19571872 19571872 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr5:19571872G>A ENST00000507958.1 - 10 2059 c.1069C>T c.(1069-1071)Cgc>Tgc p.R357C CDH18_ENST00000511273.1_Missense_Mutation_p.R357C|CDH18_ENST00000506372.1_Missense_Mutation_p.R357C|CDH18_ENST00000274170.4_Missense_Mutation_p.R357C|CDH18_ENST00000502796.1_Missense_Mutation_p.R357C|CDH18_ENST00000382275.1_Missense_Mutation_p.R357C Q13634 CAD18_HUMAN cadherin 18, type 2 357 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R357C(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGAGAAAAGCGAAAATCAAGA 0.378000 15 59 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43096998 43096998 + Silent SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr6:43096998C>T ENST00000230419.4 + 2 584 c.363C>T c.(361-363)atC>atT p.I121I PTK7_ENST00000352931.2_Silent_p.I121I|PTK7_ENST00000476760.1_Silent_p.I121I|PTK7_ENST00000471863.1_Silent_p.I121I|PTK7_ENST00000349241.2_Silent_p.I121I|PTK7_ENST00000345201.2_Silent_p.I121I|PTK7_ENST00000481273.1_Silent_p.I129I NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 121 actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CCTTCAACATCAAATGTGAGA 0.602000 7 29 0 0 1 0 0 FAM183B 340286 broad.mit.edu 37 7 38725414 38725414 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr7:38725414G>A ENST00000409072.3 - 2 1126 c.192C>T c.(190-192)gaC>gaT p.D64D family with sequence similarity 183, member B endometrium(1)|lung(7) 8 GAAACCTGGCGTCTGCGGGTT 0.532000 27 50 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121646627 121646627 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr3:121646627G>A ENST00000489711.1 + 14 1535 c.1147G>A c.(1147-1149)Ggt>Agt p.G383S SLC15A2_ENST00000295605.2_Missense_Mutation_p.G352S NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 383 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) AATGGCTGTTGGTATGATCCT 0.383000 11 26 0 0 1 0 0 FZD6 8323 broad.mit.edu 37 8 104337688 104337688 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:104337688G>C ENST00000358755.4 + 4 1671 c.1354G>C c.(1354-1356)Gat>Cat p.D452H FZD6_ENST00000522566.1_Missense_Mutation_p.D452H|FZD6_ENST00000540287.1_Missense_Mutation_p.D147H|FZD6_ENST00000523739.1_Missense_Mutation_p.D420H NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 452 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) TTGGGTCTCTGATCATTGTCG 0.398000 32 169 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15437537 15437537 + Missense_Mutation SNP G G A rs137951137 byFrequency TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr4:15437537G>A ENST00000295297.4 + 2 450 c.191G>A c.(190-192)cGc>cAc p.R64H C1QTNF7_ENST00000444304.2_Missense_Mutation_p.R57H|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R57H NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 57 Collagen-like. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 CCCCATGGTCGCATCGGCCTT 0.542000 14 30 0 0 1 0 0 ARL5A 26225 broad.mit.edu 37 2 152670738 152670738 + Missense_Mutation SNP A A G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:152670738A>G ENST00000295087.8 - 3 511 c.200T>C c.(199-201)aTt>aCt p.I67T ARL5A_ENST00000428992.2_Missense_Mutation_p.I30T NM_001037174.1|NM_012097.3 NP_001032251.1|NP_036229.1 Q9Y689 ARL5A_HUMAN ADP-ribosylation factor-like 5A 67 small GTPase mediated signal transduction intracellular GTP binding breast(1)|large_intestine(2)|liver(1)|lung(2) 6 BRCA - Breast invasive adenocarcinoma(221;0.153) TTGGCCACCAATATCCCACAT 0.338000 23 72 0 0 1 0 0 SMC5 23137 broad.mit.edu 37 9 72913017 72913017 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr9:72913017C>G ENST00000361138.5 + 9 1247 c.1189C>G c.(1189-1191)Cag>Gag p.Q397E NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 397 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 CGAGAATCTTCAGCCCCAGAT 0.413000 19 88 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102074444 102074444 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr6:102074444G>A ENST00000369138.1 + 3 963 c.473G>A c.(472-474)cGt>cAt p.R158H GRIK2_ENST00000318991.6_Missense_Mutation_p.R158H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R158H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R158H|GRIK2_ENST00000358361.3_Missense_Mutation_p.R158H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R158H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R109H NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 158 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.R158H(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TCACTCAGCCGTGCCATTTTA 0.473000 11 41 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298868 125298868 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chrX:125298868C>G ENST00000538699.1 - 2 1120 c.1040G>C c.(1039-1041)cGa>cCa p.R347P DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R347P NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 347 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 GCCACCCTCTCGAGAGCACAG 0.622000 23 25 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71491598 71491598 + Missense_Mutation SNP G G T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr9:71491598G>T ENST00000265382.3 + 6 511 c.206G>T c.(205-207)gGg>gTg p.G69V PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G69V NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 69 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) TTCAGCGAAGGGAGCAATCTG 0.398000 20 48 8.28177e-16 9.20197e-16 1 1 0 SRSF12 135295 broad.mit.edu 37 6 89808522 89808522 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr6:89808522C>G ENST00000452027.2 - 5 754 c.561G>C c.(559-561)aaG>aaC p.K187N NM_080743.4 NP_542781.3 Q8WXF0 SRS12_HUMAN serine/arginine-rich splicing factor 12 187 Arg/Ser-rich (RS domain). assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome nucleoplasm nucleotide binding|RNA binding|RS domain binding|unfolded protein binding autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4) 8 ACTTGGACCTCTTTTGTAAGG 0.438000 56 177 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6225053 6225053 + Missense_Mutation SNP C C A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr6:6225053C>A ENST00000264870.3 - 7 1104 c.839G>T c.(838-840)tGg>tTg p.W280L NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 280 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GATATTGTCCCAGGATCCAAC 0.498000 19 51 1.15919e-05 1.22665e-05 1 1 0 ZNF142 7701 broad.mit.edu 37 2 219520929 219520929 + Missense_Mutation SNP A A T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:219520929A>T ENST00000411696.2 - 3 1003 c.224T>A c.(223-225)aTc>aAc p.I75N ZNF142_ENST00000449707.1_Missense_Mutation_p.I75N P52746 ZN142_HUMAN zinc finger protein 142 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CTCCACAATGATCTCCATGTT 0.592000 8 42 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139788219 139788219 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:139788219C>T ENST00000303045.6 - 16 2239 c.1793G>A c.(1792-1794)cGa>cAa p.R598Q COL22A1_ENST00000435777.1_Missense_Mutation_p.R598Q NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 598 Collagen-like 3.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTTTCTCCTCGAGTTCCCTT 0.493000 HNSCC(7;0.00092) 19 73 0 0 1 0 0 UHRF1 29128 broad.mit.edu 37 19 4950635 4950635 + RNA SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:4950635C>G ENST00000592666.1 + 0 2106 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) CGCTGGCTCTCAACTGCTTTG 0.607000 15 22 0 0 1 0 0 FARS2 10667 broad.mit.edu 37 6 5771587 5771587 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr6:5771587G>C ENST00000324331.6 + 7 1617 c.1281G>C c.(1279-1281)caG>caC p.Q427H FARS2_ENST00000274680.4_Missense_Mutation_p.Q427H O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 427 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) CTCTGTCCCAGAGAGAGGTCA 0.592000 12 28 0 0 1 0 0 TPX2 22974 broad.mit.edu 37 20 30365422 30365422 + Missense_Mutation SNP G G T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr20:30365422G>T ENST00000340513.4 + 9 1391 c.863G>T c.(862-864)cGa>cTa p.R288L TPX2_ENST00000300403.6_Missense_Mutation_p.R288L Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 288 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) TCTGAACTACGAAAGCATCCT 0.373000 20 42 2.32416e-17 2.59682e-17 1 1 0 VPS13B 157680 broad.mit.edu 37 8 100127959 100127959 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:100127959C>G ENST00000395996.1 + 7 905 c.794C>G c.(793-795)tCt>tGt p.S265C VPS13B_ENST00000355155.1_Missense_Mutation_p.S265C|VPS13B_ENST00000441350.2_Missense_Mutation_p.S265C|VPS13B_ENST00000358544.2_Missense_Mutation_p.S265C|VPS13B_ENST00000357162.2_Missense_Mutation_p.S265C Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 265 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTGAAACTTTCTATCACAGAT 0.303000 15 70 0 0 1 0 0 FUCA2 2519 broad.mit.edu 37 6 143816918 143816918 + Nonsense_Mutation SNP C C A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr6:143816918C>A ENST00000002165.5 - 7 1385 c.1330G>T c.(1330-1332)Gaa>Taa p.E444* RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma 444 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) TGTGGCAGTTCTACCATAATG 0.453000 12 30 5.50884e-06 5.86046e-06 1 1 0 MPDZ 8777 broad.mit.edu 37 9 13121779 13121779 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr9:13121779C>G ENST00000319217.7 - 38 5437 c.5190G>C c.(5188-5190)aaG>aaC p.K1730N MPDZ_ENST00000536827.1_Missense_Mutation_p.K1697N|MPDZ_ENST00000541718.1_Missense_Mutation_p.K1730N|MPDZ_ENST00000381022.2_Missense_Mutation_p.K1730N|MPDZ_ENST00000538841.1_Missense_Mutation_p.K589N|MPDZ_ENST00000546205.1_Missense_Mutation_p.K1744N|MPDZ_ENST00000381015.4_Missense_Mutation_p.K1730N|MPDZ_ENST00000447879.1_Missense_Mutation_p.K1697N|MPDZ_ENST00000541093.1_5'UTR NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1730 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TTCCCGGCTTCTTCTGCAGCT 0.478000 11 52 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53569561 53569561 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:53569561G>A ENST00000025008.5 - 15 3351 c.2828C>T c.(2827-2829)tCt>tTt p.S943F RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S943F|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S943F NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 943 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) ACAATTTTGAGAGTGCATTAT 0.323000 11 41 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28884863 28884863 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr16:28884863G>C ENST00000322610.8 + 11 2432 c.1993G>C c.(1993-1995)Gaa>Caa p.E665Q SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000337120.5_3'UTR|SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000395532.4_3'UTR Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 665 blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 GAGGGCGCCAGAAGTGGCGGC 0.657000 4 19 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145529194 145529194 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr5:145529194C>G ENST00000394434.2 - 15 1660 c.1494G>C c.(1492-1494)atG>atC p.M498I LARS_ENST00000510191.1_Missense_Mutation_p.M444I|LARS_ENST00000545646.1_Missense_Mutation_p.M452I|LARS_ENST00000274562.9_Missense_Mutation_p.M471I NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 498 Editing domain. leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CAGCGTCAATCATCTTTTTCT 0.383000 16 72 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7172550 7172550 + Missense_Mutation SNP G G T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:7172550G>T ENST00000406697.1 + 9 1292 c.664G>T c.(664-666)Gat>Tat p.D222Y C1S_ENST00000360817.5_Missense_Mutation_p.D222Y|C1S_ENST00000328916.3_Missense_Mutation_p.D222Y|C1S_ENST00000402681.3_Missense_Mutation_p.D55Y P09871 C1S_HUMAN complement component 1, s subcomponent 222 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GCGGAGAGAAGATTTTGATGT 0.468000 12 36 0.00136819 0.00141051 1 1 0 GPR149 344758 broad.mit.edu 37 3 154055808 154055808 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr3:154055808C>G ENST00000389740.2 - 4 1975 c.1876G>C c.(1876-1878)Gat>Cat p.D626H NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 626 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCTTCATTATCACAAATTTCA 0.423000 21 81 0 0 1 0 0 TRIM14 9830 broad.mit.edu 37 9 100857233 100857233 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr9:100857233C>T ENST00000341469.2 - 4 625 c.616G>A c.(616-618)Gag>Aag p.E206K TRIM14_ENST00000342043.3_Missense_Mutation_p.E206K|TRIM14_ENST00000375098.3_Missense_Mutation_p.E206K NM_014788.2 NP_055603.2 Q14142 TRI14_HUMAN tripartite motif containing 14 206 cytoplasm|intracellular zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) TTGACGGGCTCAAAGGAGAGG 0.587000 42 47 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52370181 52370181 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:52370181C>T ENST00000356297.4 - 9 959 c.859G>A c.(859-861)Gat>Aat p.D287N PXDNL_ENST00000543296.1_Missense_Mutation_p.D287N NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 287 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AGTGTGCCATCATCAAACACA 0.413000 23 71 0 0 1 0 0 CDCA5 113130 broad.mit.edu 37 11 64851407 64851407 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr11:64851407G>C ENST00000275517.3 - 1 216 c.44C>G c.(43-45)tCc>tGc p.S15C CDCA5_ENST00000404147.3_Missense_Mutation_p.S15C NM_080668.3 NP_542399.1 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 15 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCGCTCACCGGAGCGCTGAGC 0.726000 10 33 0 0 1 0 0 CDKN3 1033 broad.mit.edu 37 14 54868293 54868293 + Silent SNP T T A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr14:54868293T>A ENST00000541304.1 + 3 184 c.144T>A c.(142-144)ctT>ctA p.L48L CDKN3_ENST00000442975.2_Intron|CDKN3_ENST00000556102.2_Silent_p.L48L|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000458126.2_Silent_p.L48L|CDKN3_ENST00000335183.6_Silent_p.L48L|CDKN3_ENST00000543789.2_Silent_p.L48L Q16667 CDKN3_HUMAN cyclin-dependent kinase inhibitor 3 48 cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity perinuclear region of cytoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(2)|stomach(1) 3 TATGTGCTCTTCCAGGTGGGT 0.328000 15 45 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233710512 233710512 + Nonsense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:233710512C>T ENST00000373566.3 + 27 3639 c.3442C>T c.(3442-3444)Cag>Tag p.Q1148* GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1126*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1148*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q1126*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1147*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1120* Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1126 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GAAGCTCTTTCAGGGAGTAAA 0.393000 20 40 0 0 1 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183603 11183603 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:11183603G>A ENST00000390675.2 - 1 403 c.332C>T c.(331-333)gCc>gTc p.A111V PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 111 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 GGAGAAATTGGCAATCTTGAG 0.403000 9 120 0 0 1 0 0 CHAC1 79094 broad.mit.edu 37 15 41246009 41246009 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr15:41246009G>A ENST00000446533.3 + 1 663 c.354G>A c.(352-354)aaG>aaA p.K118K CHAC1_ENST00000444189.2_Silent_p.K118K NM_001142776.1|NM_024111.3 NP_001136248.1|NP_077016.2 Q9BUX1 CHAC1_HUMAN ChaC, cation transport regulator homolog 1 (E. coli) 118 apoptosis in response to endoplasmic reticulum stress|response to unfolded protein cytosol protein binding endometrium(1)|large_intestine(1)|skin(1) 3 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163) GCAGCGACAAGATGGTGAGCA 0.662000 4 8 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72008698 72008698 + Nonsense_Mutation SNP G G T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:72008698G>T ENST00000378743.3 - 29 5634 c.5276C>A c.(5275-5277)tCa>tAa p.S1759* NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1759 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTTAATACTTGATTGAAGAGG 0.348000 23 55 6.44725e-10 6.97e-10 1 1 0 AMER2 219287 broad.mit.edu 37 13 25744032 25744032 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr13:25744032C>T ENST00000357816.2 - 3 1844 c.1369G>A c.(1369-1371)Gag>Aag p.E457K AMER2_ENST00000381853.3_Missense_Mutation_p.E457K|AMER2_ENST00000515384.1_Missense_Mutation_p.E576K APC membrane recruitment protein 2 GACGTCTCCTCGTTGTCCTTC 0.607000 23 53 0 0 1 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737341 62737341 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr20:62737341C>T ENST00000369768.1 - 1 1183 c.844G>A c.(844-846)Gtg>Atg p.V282M NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 282 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) GTCAGGGCCACGACAGAGGCC 0.642000 13 26 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49690575 49690575 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr3:49690575G>A ENST00000296452.4 + 5 3700 c.3586G>A c.(3586-3588)Gag>Aag p.E1196K NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1196 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCGCAAAGCTGAGCTGCTCCA 0.677000 10 11 0 0 1 0 0 PDE4A 5141 broad.mit.edu 37 19 10570275 10570275 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:10570275G>A ENST00000380702.2 + 11 1139 c.1139G>A c.(1138-1140)cGg>cAg p.R380Q PDE4A_ENST00000440014.2_Missense_Mutation_p.R341Q|PDE4A_ENST00000352831.6_Missense_Mutation_p.R402Q|PDE4A_ENST00000592685.1_Missense_Mutation_p.R380Q|PDE4A_ENST00000293683.5_Missense_Mutation_p.R376Q|PDE4A_ENST00000344979.3_Missense_Mutation_p.R163Q P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 402 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) TCTCAGGAGCGGGACCTGCTG 0.637000 10 28 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52841200 52841200 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:52841200G>A ENST00000371568.3 - 15 2423 c.2205C>T c.(2203-2205)ttC>ttT p.F735F ORC1_ENST00000371566.1_Silent_p.F735F NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 735 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TCTGCTGGGAGAACTCACAGA 0.522000 15 51 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092632 35092632 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr9:35092632C>G ENST00000378617.3 - 7 1646 c.1252G>C c.(1252-1254)Gag>Cag p.E418Q PIGO_ENST00000361778.2_Missense_Mutation_p.E418Q|PIGO_ENST00000341666.3_Missense_Mutation_p.E418Q|PIGO_ENST00000298004.5_Missense_Mutation_p.E418Q NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 418 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGTGTCGCCTCAGCCCCCTTG 0.587000 21 63 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17405231 17405231 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:17405231G>A ENST00000247706.3 - 4 1254 c.1015C>T c.(1015-1017)Cgg>Tgg p.R339W MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 339 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 ATCATGGCCCGGAGTACGAAG 0.627000 35 90 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227963502 227963502 + Missense_Mutation SNP T T C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:227963502T>C ENST00000396625.3 - 19 1319 c.1112A>G c.(1111-1113)gAc>gGc p.D371G COL4A4_ENST00000329662.7_Missense_Mutation_p.D371G NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 371 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GAACCCTGGGTCCCCTGGTGG 0.493000 6 28 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1334480 1334480 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:1334480G>A ENST00000400809.3 - 1 212 c.207C>T c.(205-207)ctC>ctT p.L69L CCNL2_ENST00000408918.4_Silent_p.L69L NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 69 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) TGTCGGTGTCGAGGCCGCTCG 0.677000 10 28 0 0 1 0 0 QDPR 5860 broad.mit.edu 37 4 17493925 17493925 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr4:17493925G>C ENST00000281243.5 - 5 654 c.475C>G c.(475-477)Cag>Gag p.Q159E QDPR_ENST00000508623.1_Intron|QDPR_ENST00000513615.1_Intron|QDPR_ENST00000428702.2_Missense_Mutation_p.Q128E NM_000320.2 NP_000311.2 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 159 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 13 NADH(DB00157) TGGCAGAGCTGGTGAACAGCA 0.647000 7 13 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118357632 118357632 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr10:118357632G>C ENST00000528052.1 + 8 839 c.768G>C c.(766-768)aaG>aaC p.K256N PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.K256N|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.K256N P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 256 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) CGGGATGCAAGAAGAATGCCC 0.517000 7 23 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102492935 102492935 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr14:102492935G>C ENST00000360184.4 + 44 8826 c.8662G>C c.(8662-8664)Gag>Cag p.E2888Q NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2888 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AGACCAAGAAGAGTTAAGAGA 0.368000 19 40 0 0 1 0 0 ZFP41 286128 broad.mit.edu 37 8 144332588 144332588 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:144332588G>A ENST00000330701.4 + 2 944 c.575G>A c.(574-576)cGc>cAc p.R192H ZFP41_ENST00000522452.1_Missense_Mutation_p.R192H|ZFP41_ENST00000520584.1_Missense_Mutation_p.R192H NM_173832.3 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 192 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CATCAGAAACGCCACCCTCGG 0.647000 40 114 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32134255 32134255 + Silent SNP A A G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:32134255A>G ENST00000312561.4 + 4 780 c.366A>G c.(364-366)tcA>tcG p.S122S KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 GGTTGAACTCACCAATGAGGA 0.408000 17 47 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110492172 110492172 + Silent SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chrX:110492172C>T ENST00000324068.1 - 9 1439 c.1272G>A c.(1270-1272)gaG>gaA p.E424E CAPN6_ENST00000541758.1_Silent_p.E169E NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 424 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CCTTGAAGAGCTCAAAGCCAA 0.463000 29 41 0 0 1 0 0 LRRC39 127495 broad.mit.edu 37 1 100634004 100634004 + Missense_Mutation SNP C C A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:100634004C>A ENST00000370138.1 - 3 267 c.69G>T c.(67-69)aaG>aaT p.K23N LRRC39_ENST00000370137.1_Missense_Mutation_p.K23N|LRRC39_ENST00000342895.3_Missense_Mutation_p.K23N NM_001256385.1 NP_001243314.1 Q96DD0 LRC39_HUMAN leucine rich repeat containing 39 23 endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 13 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) CATTGAGTTTCTTTATTCTTT 0.338000 10 32 0.000673444 0.000697869 1 1 0 CTSS 1520 broad.mit.edu 37 1 150722538 150722538 + Missense_Mutation SNP C C A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:150722538C>A ENST00000368985.3 - 6 997 c.737G>T c.(736-738)gGc>gTc p.G246V CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.G196V NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 246 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) AGACACTGGGCCTTTATTGGC 0.378000 25 34 4.47668e-21 5.02998e-21 1 1 0 SPATA16 83893 broad.mit.edu 37 3 172631518 172631518 + Missense_Mutation SNP G G T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr3:172631518G>T ENST00000351008.3 - 10 1703 c.1520C>A c.(1519-1521)gCa>gAa p.A507E NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 507 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CATAGCATCTGCCATTAGTGA 0.348000 5 14 0.184627 0.186492 1 1 0 TDRD5 163589 broad.mit.edu 37 1 179620113 179620113 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:179620113G>C ENST00000444136.1 + 12 2162 c.1912G>C c.(1912-1914)Gac>Cac p.D638H TDRD5_ENST00000294848.8_Missense_Mutation_p.D638H|TDRD5_ENST00000367614.1_Missense_Mutation_p.D638H NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 638 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TTTTTTGTGTGACACATCCTC 0.413000 27 113 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15983977 15983977 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr17:15983977G>A ENST00000268712.3 - 24 3499 c.3242C>T c.(3241-3243)cCg>cTg p.P1081L NCOR1_ENST00000395851.1_Missense_Mutation_p.P1097L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1081 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding p.P1081L(1)|p.P1081Q(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCCCACTGACGGCTTGGGTGT 0.403000 15 50 0 0 1 0 0 MBOAT7 79143 broad.mit.edu 37 19 54691100 54691100 + Silent SNP C C A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:54691100C>A ENST00000245615.1 - 4 756 c.276G>T c.(274-276)ctG>ctT p.L92L MBOAT7_ENST00000391754.1_Silent_p.L92L|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000431666.2_Intron NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 92 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGGGCAGGCCCAGGAGGCTGA 0.652000 3 5 0.004672 0.00479179 1 1 0 AKR7L 246181 broad.mit.edu 37 1 19596156 19596156 + RNA SNP G G T rs6665756 by1000genomes TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:19596156G>T ENST00000420396.2 - 0 507 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CCTGCCGGGTGGTGGCGCTGT 0.562000 4 54 0.00909568 0.00923419 1 1 0 GML 2765 broad.mit.edu 37 8 143921918 143921918 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:143921918G>A ENST00000220940.1 + 2 155 c.65G>A c.(64-66)cGc>cAc p.R22H NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 22 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GCCACCATGCGCGCTCAGTGT 0.577000 34 51 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35042305 35042305 + Silent SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr9:35042305C>G ENST00000312292.5 + 1 101 c.54C>G c.(52-54)ctC>ctG p.L18L C9orf131_ENST00000421362.2_Intron|C9orf131_ENST00000354479.5_Intron NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 18 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TGGGGCTTCTCTGGGGCCAAC 0.552000 5 42 0 0 1 0 0 UGT1A4 54657 broad.mit.edu 37 2 234628224 234628224 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:234628224C>G ENST00000373409.3 + 1 801 c.758C>G c.(757-759)tCc>tGc p.S253C UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) AGCTATGCATCCGTGTGGCTG 0.522000 44 148 0 0 1 0 0 ADSL 158 broad.mit.edu 37 22 40742709 40742709 + Silent SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr22:40742709C>G ENST00000216194.7 + 1 203 c.147C>G c.(145-147)gcC>gcG p.A49A ADSL_ENST00000342312.6_Silent_p.A49A|ADSL_ENST00000454266.2_Silent_p.A49A NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 49 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 TGGCGGAGGCCGAGCAGGTAA 0.687000 4 8 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49697990 49697990 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr3:49697990G>A ENST00000296452.4 + 6 8826 c.8712G>A c.(8710-8712)gaG>gaA p.E2904E NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2904 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTCCAGAGGAGGCTCACCTTC 0.677000 22 44 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7915473 7915473 + Silent SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr17:7915473C>G ENST00000254854.4 + 9 1911 c.1761C>G c.(1759-1761)ctC>ctG p.L587L NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 587 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) TCCAGGAGCTCCGGCATGAGA 0.592000 10 35 0 0 1 0 0 ZNF641 121274 broad.mit.edu 37 12 48741052 48741052 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:48741052G>C ENST00000544117.2 - 3 1009 c.301C>G c.(301-303)Ctt>Gtt p.L101V ZNF641_ENST00000301042.3_Missense_Mutation_p.L101V|ZNF641_ENST00000547026.1_Missense_Mutation_p.L87V|ZNF641_ENST00000448928.3_Missense_Mutation_p.L87V Q96N77 ZN641_HUMAN zinc finger protein 641 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 CCAGCCGCAAGAAGTGCAGCT 0.537000 4 30 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9011002 9011002 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:9011002G>C ENST00000397910.4 - 37 39119 c.38916C>G c.(38914-38916)ttC>ttG p.F12972L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12974 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCGATGGGTGAAACCTGCAT 0.542000 17 78 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117681103 117681103 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr6:117681103G>C ENST00000368508.3 - 23 3715 c.3517C>G c.(3517-3519)Caa>Gaa p.Q1173E ROS1_ENST00000368507.3_Missense_Mutation_p.Q1168E|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1173 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CACACAACTTGATTTTGATCC 0.363000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 54 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78380277 78380277 + Missense_Mutation SNP A A T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr11:78380277A>T ENST00000278550.7 - 32 7575 c.7113T>A c.(7111-7113)agT>agA p.S2371R NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AACCTGTTCCACTAAAGACAG 0.473000 14 124 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 41 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10102535 10102535 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chrX:10102535C>T ENST00000380861.4 + 19 3053 c.2662C>T c.(2662-2664)Cgg>Tgg p.R888W WWC3_ENST00000454666.1_Missense_Mutation_p.R888W NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 888 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CGTGAAGGAGCGGCCCAGCCG 0.557000 49 51 0 0 1 0 0 RNF157 114804 broad.mit.edu 37 17 74154560 74154560 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr17:74154560C>T ENST00000269391.6 - 13 1459 c.1327G>A c.(1327-1329)Gtg>Atg p.V443M RNF157_ENST00000319945.6_Missense_Mutation_p.V443M NM_052916.2 NP_443148.1 Q96PX1 RN157_HUMAN ring finger protein 157 443 Ser-rich. zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) TCATGCAGCACGGAAGAGTTT 0.502000 23 61 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123109097 123109097 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr4:123109097C>G ENST00000264501.4 + 9 1048 c.675C>G c.(673-675)atC>atG p.I225M KIAA1109_ENST00000455637.1_Missense_Mutation_p.I225M|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I225M Q2LD37 K1109_HUMAN KIAA1109 225 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CTCTGTGCATCAACTTTGATG 0.358000 12 33 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526596 173526596 + Missense_Mutation SNP T T A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:173526596T>A ENST00000367714.3 - 10 1520 c.1098A>T c.(1096-1098)gaA>gaT p.E366D SLC9C2_ENST00000536496.1_Missense_Mutation_p.E264D|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 366 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity GCCAATTATATTCATAATTTG 0.348000 13 151 0 0 1 0 0 TNFSF11 8600 broad.mit.edu 37 13 43180865 43180865 + Silent SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr13:43180865G>C ENST00000398795.2 + 5 914 c.546G>C c.(544-546)ctG>ctC p.L182L TNFSF11_ENST00000405262.2_Silent_p.L182L|TNFSF11_ENST00000358545.2_Silent_p.L182L|TNFSF11_ENST00000544862.1_Silent_p.L182L|TNFSF11_ENST00000239849.6_Silent_p.L255L NM_003701.3 NP_003692.1 O14788 TNF11_HUMAN tumor necrosis factor (ligand) superfamily, member 11 255 immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 10 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) CTCATACCCTGATGAAAGGAG 0.398000 31 55 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78319633 78319633 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr17:78319633G>C ENST00000582970.1 + 29 7641 c.7498G>C c.(7498-7500)Gaa>Caa p.E2500Q RNF213_ENST00000336301.6_Missense_Mutation_p.E573Q|RNF213_ENST00000508628.2_Missense_Mutation_p.E2549Q NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CTGTATCAAAGAAGTCCTGTG 0.483000 24 71 0 0 1 0 0 SPTLC1 10558 broad.mit.edu 37 9 94830314 94830314 + Nonsense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr9:94830314G>C ENST00000262554.2 - 6 499 c.494C>G c.(493-495)tCa>tGa p.S165* SPTLC1_ENST00000482632.1_5'UTR NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 165 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AAATCCATATGAGTATATAAT 0.348000 10 60 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137497527 137497527 + Missense_Mutation SNP A A C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr5:137497527A>C ENST00000254900.5 - 17 2578 c.2207T>G c.(2206-2208)gTt>gGt p.V736G BRD8_ENST00000411594.2_Missense_Mutation_p.V739G|BRD8_ENST00000402931.1_Missense_Mutation_p.V736G|BRD8_ENST00000230901.5_Missense_Mutation_p.V809G|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000455658.2_Missense_Mutation_p.V695G NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 736 Bromo 1. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GTCATCTGTAACAGGCTGCAG 0.458000 8 36 0 0 1 0 0 CA3 761 broad.mit.edu 37 8 86352120 86352120 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:86352120G>C ENST00000285381.2 + 2 297 c.214G>C c.(214-216)Gat>Cat p.D72H NM_005181.3 NP_005172.1 P07451 CAH3_HUMAN carbonic anhydrase III, muscle specific 72 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TGTATTTGATGATACTTATGA 0.428000 10 46 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233993 43233993 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:43233993G>C ENST00000327495.5 - 4 1109 c.925C>G c.(925-927)Caa>Gaa p.Q309E PSG3_ENST00000595140.1_Missense_Mutation_p.Q309E NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 309 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) ATTTCACATTGATAGGGTCCT 0.502000 38 129 0 0 1 0 0 C7orf25 79020 broad.mit.edu 37 7 42949829 42949829 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr7:42949829C>G ENST00000350427.4 - 2 946 c.671G>C c.(670-672)aGa>aCa p.R224T C7orf25_ENST00000431882.2_Missense_Mutation_p.R282T|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.R224T|C7orf25_ENST00000447342.1_Missense_Mutation_p.R224T Q9BPX7 CG025_HUMAN chromosome 7 open reading frame 25 224 endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1) 17 TCGGTCAACTCTGGTCACCTG 0.423000 27 52 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52797498 52797498 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:52797498C>T ENST00000257974.2 - 2 684 c.607G>A c.(607-609)Ggc>Agc p.G203S NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 203 Coil 1B.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) ttcttgtagccctccagtgcA 0.582000 27 101 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35398240 35398240 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr9:35398240G>A ENST00000378495.3 + 30 3762 c.3540G>A c.(3538-3540)ctG>ctA p.L1180L UNC13B_ENST00000396787.1_Silent_p.L1192L|UNC13B_ENST00000378496.4_Silent_p.L1180L|UNC13B_ENST00000481299.1_3'UTR NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1180 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TGCAGCAACTGAGGGTCCAGC 0.512000 9 22 0 0 1 0 0 FYN 2534 broad.mit.edu 37 6 112021406 112021406 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr6:112021406C>T ENST00000354650.3 - 9 1369 c.763G>A c.(763-765)Gat>Aat p.D255N FYN_ENST00000229471.4_Intron|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368682.3_Intron|FYN_ENST00000229470.5_Intron|FYN_ENST00000368678.4_Intron|FYN_ENST00000356013.2_Intron|FYN_ENST00000368667.2_Missense_Mutation_p.D255N|FYN_ENST00000538466.1_Intron NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 255 axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) ACAGACAGATCGGTAAGCCTT 0.542000 24 68 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115971687 115971687 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr10:115971687G>A ENST00000251864.2 + 14 1876 c.1723G>A c.(1723-1725)Gga>Aga p.G575R TDRD1_ENST00000369280.1_Missense_Mutation_p.G575R|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369282.1_Missense_Mutation_p.G575R|TDRD1_ENST00000369281.2_Intron NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 575 Tudor 2. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGTACTGGTCGGATATGTAGA 0.398000 26 69 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102647507 102647507 + Splice_Site SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr11:102647507C>T ENST00000279441.4 - 5 659 c.622_splice c.e5-1 p.G208_splice NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 208 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TAAATTGGTGCCTGTATGAAA 0.438000 18 385 0 0 1 0 0 TMED2 10959 broad.mit.edu 37 12 124069243 124069243 + Silent SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:124069243C>G ENST00000262225.3 + 1 166 c.60C>G c.(58-60)ggC>ggG p.G20G RP11-486O12.2_ENST00000498967.2_lincRNA NM_006815.3 NP_006806.1 Q15363 TMED2_HUMAN transmembrane emp24 domain trafficking protein 2 20 protein transport|vesicle-mediated transport COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane protein binding kidney(1)|large_intestine(4)|lung(1)|prostate(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745) CGGTCTCGGGCTATTTCGTTA 0.642000 6 27 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64594814 64594814 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr11:64594814G>A ENST00000342711.5 - 33 4206 c.4207C>T c.(4207-4209)Cgc>Tgc p.R1403C NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1403 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CTCTTGGTGCGGAACAGCTGG 0.652000 23 123 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1218423 1218423 + Nonsense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:1218423C>T ENST00000326873.7 + 2 1471 c.298C>T c.(298-300)Caa>Taa p.Q100* STK11_ENST00000585748.1_3'UTR NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 100 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(4) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGAAATTCAACTACTGAG 0.527000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 20 51 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49316263 49316263 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr3:49316263G>C ENST00000351842.4 - 20 2584 c.2576C>G c.(2575-2577)tCt>tGt p.S859C USP4_ENST00000265560.4_Missense_Mutation_p.S906C NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 906 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CTGATCCTCAGAGGCCAGGGA 0.423000 36 50 0 0 1 0 0 SSTR1 6751 broad.mit.edu 37 14 38679420 38679420 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr14:38679420G>A ENST00000267377.2 + 3 1443 c.826G>A c.(826-828)Gtg>Atg p.V276M NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 276 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GGTGATGATGGTGGTGATGGT 0.572000 13 44 0 0 1 0 0 FICD 11153 broad.mit.edu 37 12 108912624 108912624 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:108912624G>A ENST00000552695.1 + 3 984 c.749G>A c.(748-750)cGc>cAc p.R250H FICD_ENST00000361549.2_3'UTR NM_007076.2 NP_009007.2 Q9BVA6 FICD_HUMAN FIC domain containing 250 negative regulation of Rho GTPase activity integral to membrane binding|protein adenylyltransferase activity NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2) 15 CTGGAGACCCGCTACGCCGTG 0.582000 14 37 0 0 1 0 0 SP2 6668 broad.mit.edu 37 17 45994113 45994113 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr17:45994113G>A ENST00000376741.4 + 3 813 c.676G>A c.(676-678)Ggg>Agg p.G226R AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 226 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 CAGTGACACCGGGGCCCCTAC 0.612000 21 70 0 0 1 0 0 SPSB3 90864 broad.mit.edu 37 16 1828538 1828538 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr16:1828538C>T ENST00000566339.1 - 3 532 c.202G>A c.(202-204)Gag>Aag p.E68K SPSB3_ENST00000301717.4_Missense_Mutation_p.E68K NM_080861.3 NP_543137.2 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box containing 3 68 intracellular signal transduction endometrium(1)|kidney(4)|lung(3)|prostate(2) 10 CAGAAGGACTCGCCGGTCACG 0.677000 18 46 0 0 1 0 0 TMCO2 127391 broad.mit.edu 37 1 40717103 40717103 + Missense_Mutation SNP T T C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:40717103T>C ENST00000372766.3 + 2 479 c.386T>C c.(385-387)aTt>aCt p.I129T TMCO2_ENST00000468258.1_3'UTR NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 129 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CAAGAGAAAATTTTGAAAAAA 0.413000 11 49 0 0 1 0 0 MORN3 283385 broad.mit.edu 37 12 122097169 122097169 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:122097169G>A ENST00000355329.3 - 2 401 c.231C>T c.(229-231)ctC>ctT p.L77L NM_173855.4 NP_776254.3 Q6PF18 MORN3_HUMAN MORN repeat containing 3 77 breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) CAGGAAGGCTGAGGGTGCCGT 0.557000 21 43 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578524 7578524 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr17:7578524G>C ENST00000420246.2 - 5 538 c.406C>G c.(406-408)Caa>Gaa p.Q136E TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E|TP53_ENST00000269305.4_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 136 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTGGCCAGTTGGCAAAACATC 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 43 0 0 1 0 0 PCBP2 5094 broad.mit.edu 37 12 53854798 53854798 + Splice_Site SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:53854798G>A ENST00000603815.1 + 7 725 c.e7-1 RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Splice_Site|PCBP2_ENST00000359282.5_Splice_Site|PCBP2_ENST00000437231.1_Splice_Site|PCBP2_ENST00000552819.1_Splice_Site|PCBP2_ENST00000439930.3_Splice_Site|PCBP2_ENST00000359462.5_Splice_Site|PCBP2_ENST00000455667.3_Splice_Site|PCBP2_ENST00000541275.1_Splice_Site|PCBP2_ENST00000549863.1_Splice_Site|PCBP2_ENST00000548933.1_Splice_Site|PCBP2_ENST00000552296.2_Splice_Site|PCBP2_ENST00000546463.1_Splice_Site NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 TTACTCCAAAGAGTACAGGGG 0.438000 16 40 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102988494 102988494 + Silent SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr11:102988494C>T ENST00000375735.2 + 6 1045 c.901C>T c.(901-903)Cta>Tta p.L301L DYNC2H1_ENST00000334267.7_Silent_p.L301L|DYNC2H1_ENST00000398093.3_Silent_p.L301L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 301 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CTGTAATCATCTAACAGGTCA 0.403000 14 272 0 0 1 0 0 AFTPH 54812 broad.mit.edu 37 2 64780062 64780062 + Missense_Mutation SNP A A G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:64780062A>G ENST00000422803.1 + 2 1768 c.1454A>G c.(1453-1455)aAt>aGt p.N485S AFTPH_ENST00000409183.1_Missense_Mutation_p.N116S|AFTPH_ENST00000238856.4_Missense_Mutation_p.N485S|AFTPH_ENST00000409933.1_Missense_Mutation_p.N485S|AFTPH_ENST00000238855.7_Missense_Mutation_p.N485S|AFTPH_ENST00000487769.1_3'UTR Q6ULP2 AFTIN_HUMAN aftiphilin 485 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 GGGGATATAAATGCTGTTTCT 0.363000 34 74 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101075915 101075915 + Missense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr8:101075915G>A ENST00000360863.6 - 8 1275 c.1081C>T c.(1081-1083)Cat>Tat p.H361Y RGS22_ENST00000523437.1_Missense_Mutation_p.H349Y|RGS22_ENST00000523287.1_Missense_Mutation_p.H180Y NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 361 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TTCTTGCCATGAATAGACTCA 0.343000 16 59 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51072582 51072582 + Nonsense_Mutation SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:51072582G>A ENST00000301180.5 + 8 1071 c.1037G>A c.(1036-1038)tGg>tAg p.W346* NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 346 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CTGCAGCGCTGGGGTACCACT 0.532000 16 29 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726803 32726803 + Missense_Mutation SNP C C T rs114730424 by1000genomes TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr6:32726803C>T ENST00000435145.2 - 3 531 c.470G>A c.(469-471)cGg>cAg p.R157Q HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R157Q|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.R157Q Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 157 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCGAAACCACCGGACTTTGAT 0.547000 8 100 0 0 1 0 0 ICA1L 130026 broad.mit.edu 37 2 203686198 203686198 + Nonsense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:203686198G>C ENST00000392237.2 - 5 399 c.242C>G c.(241-243)tCa>tGa p.S81* ICA1L_ENST00000418208.1_Intron|ICA1L_ENST00000425178.1_Nonsense_Mutation_p.S81*|ICA1L_ENST00000358299.2_Nonsense_Mutation_p.S81* NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 81 AH. breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTCTTCCTCTGATATAACTAG 0.353000 15 27 0 0 1 0 0 PNN 5411 broad.mit.edu 37 14 39650601 39650601 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr14:39650601G>C ENST00000216832.4 + 9 1755 c.1688G>C c.(1687-1689)aGa>aCa p.R563T PNN_ENST00000557680.1_Intron NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 563 Ser-rich. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) AGCAGAAGTAGAGGTCGAGCT 0.448000 12 51 0 0 1 0 0 MSL2 55167 broad.mit.edu 37 3 135871452 135871452 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr3:135871452C>G ENST00000309993.2 - 2 1003 c.271G>C c.(271-273)Gag>Cag p.E91Q MSL2_ENST00000434835.2_Missense_Mutation_p.E17Q NM_018133.3 NP_060603.2 Q9HCI7 MSL2_HUMAN male-specific lethal 2 homolog (Drosophila) 91 histone H4-K16 acetylation MSL complex zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 TTGTTTTCCTCAAACTGCTCA 0.408000 37 110 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26851329 26851329 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr10:26851329G>C ENST00000376236.4 + 14 1899 c.1444G>C c.(1444-1446)Gag>Cag p.E482Q APBB1IP_ENST00000493857.1_3'UTR NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 482 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 TGTTCTCCAAGAGGCCCAGAG 0.478000 35 105 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2815863 2815863 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr16:2815863G>C ENST00000301740.8 + 11 5883 c.5334G>C c.(5332-5334)agG>agC p.R1778S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1778 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CCCGCTCAAGGAGAGAGAAAA 0.582000 13 33 0 0 1 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783657 149783657 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:149783657G>A ENST00000427880.2 - 1 268 c.222C>T c.(220-222)atC>atT p.I74I HIST2H2BF_ENST00000369167.1_Silent_p.I74I|HIST2H2BF_ENST00000545683.1_Silent_p.I74I|HIST2H2BF_ENST00000469483.1_5'UTR Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 74 nucleosome assembly nucleosome|nucleus DNA binding p.I74I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) CCTCTCCCGCGATGCGCTCGA 0.642000 25 107 0 0 1 0 0 MCU 90550 broad.mit.edu 37 10 74631162 74631162 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr10:74631162G>C ENST00000536019.1 + 6 983 c.538G>C c.(538-540)Gag>Cag p.E180Q MCU_ENST00000357157.6_Missense_Mutation_p.E208Q|MCU_ENST00000373053.3_Missense_Mutation_p.E229Q|MCU_ENST00000605416.1_3'UTR NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 229 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 CAGAAAAGCTGAGAAGAGGAC 0.443000 35 125 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971153 21971153 + Nonsense_Mutation SNP C C A rs121913383 TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr9:21971153C>A ENST00000304494.5 - 2 475 c.205G>T c.(205-207)Gag>Tag p.E69* CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G83V|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G83V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G124V|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E69* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 69 E -> G (found in some patients with melanoma; partial loss of CDK4 binding).|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.E69*(16)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E69K(1)|p.E61_L94del(1)|p.0(1)|p.E69fs*77(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.L64_E69>Q(1)|p.E69Q(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGTTGGGCTCCGCGCCGTGG 0.711000 E69*(A375_SKIN)|E69*(CAL27_UPPER_AERODIGESTIVE_TRACT)|E69*(NCIH1975_LUNG)|E69*(SUIT2_PANCREAS) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 5 6 0.000602214 0.000627307 1 1 0 CDH9 1007 broad.mit.edu 37 5 26903762 26903762 + Missense_Mutation SNP A A T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr5:26903762A>T ENST00000231021.4 - 6 1155 c.983T>A c.(982-984)aTt>aAt p.I328N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 328 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GACAGTTATAATCCCTTCCTG 0.403000 63 117 0 0 1 0 0 ABCB6 10058 broad.mit.edu 37 2 220078891 220078891 + Silent SNP G G A rs144749234 TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:220078891G>A ENST00000265316.3 - 8 1720 c.1404C>T c.(1402-1404)gcC>gcT p.A468A ABCB6_ENST00000439002.2_Silent_p.A422A NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 468 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGTAACTCTCGGCGTTGTAAT 0.488000 15 74 0 0 1 0 0 RPUSD2 27079 broad.mit.edu 37 15 40862066 40862066 + Missense_Mutation SNP A A G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr15:40862066A>G ENST00000315616.7 + 1 568 c.530A>G c.(529-531)tAc>tGc p.Y177C RPUSD2_ENST00000559271.1_Intron NM_152260.1 NP_689473.1 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 2 177 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding kidney(4)|lung(4)|skin(3) 11 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) CCCCTGGCCTACTATGAGGCC 0.622000 4 6 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135890465 135890465 + Splice_Site SNP T T C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:135890465T>C ENST00000264158.8 + 14 1280 c.1236_splice c.e14-1 p.F413_splice RAB3GAP1_ENST00000442034.1_Splice_Site_p.F413_splice|RAB3GAP1_ENST00000539493.1_Splice_Site_p.F369_splice|RAB3GAP1_ENST00000487003.1_3'UTR NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 413 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) TTCCTTCAAGTTCTTATTCCC 0.294000 10 26 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216272015 216272015 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:216272015C>T ENST00000354785.4 - 18 2917 c.2548G>A c.(2548-2550)Gaa>Aaa p.E850K FN1_ENST00000336916.4_Missense_Mutation_p.E850K|FN1_ENST00000323926.6_Missense_Mutation_p.E850K|FN1_ENST00000446046.1_Missense_Mutation_p.E850K|FN1_ENST00000432072.2_Missense_Mutation_p.E850K|FN1_ENST00000421182.1_Missense_Mutation_p.E850K|FN1_ENST00000443816.1_Missense_Mutation_p.E850K|FN1_ENST00000359671.1_Missense_Mutation_p.E850K|FN1_ENST00000357867.4_Missense_Mutation_p.E850K|FN1_ENST00000357009.2_Missense_Mutation_p.E850K|FN1_ENST00000356005.4_Missense_Mutation_p.E850K|FN1_ENST00000346544.3_Missense_Mutation_p.E850K|FN1_ENST00000345488.5_Missense_Mutation_p.E850K P02751 FINC_HUMAN fibronectin 1 850 Fibronectin type-III 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCTACCTTCTACTGATGGC 0.433000 22 60 0 0 1 0 0 MBOAT7 79143 broad.mit.edu 37 19 54691101 54691101 + Missense_Mutation SNP A A G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:54691101A>G ENST00000245615.1 - 4 755 c.275T>C c.(274-276)cTg>cCg p.L92P MBOAT7_ENST00000391754.1_Missense_Mutation_p.L92P|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000431666.2_Intron NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 92 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGGCAGGCCCAGGAGGCTGAG 0.652000 3 5 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106937877 106937877 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr10:106937877C>T ENST00000369701.3 + 14 2182 c.1955C>T c.(1954-1956)cCt>cTt p.P652L SORCS3_ENST00000369699.4_Intron NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 652 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ACTTCGGTTCCTCTCTTTGTT 0.478000 10 38 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64067335 64067335 + Missense_Mutation SNP C C A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr15:64067335C>A ENST00000443617.2 - 2 575 c.488G>T c.(487-489)cGa>cTa p.R163L NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 163 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TAGACCAGTTCGAACACCCAT 0.468000 48 157 1.76056e-25 1.98933e-25 1 1 0 AATK 9625 broad.mit.edu 37 17 79098605 79098605 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr17:79098605C>T ENST00000326724.4 - 9 908 c.884G>A c.(883-885)cGc>cAc p.R295H AATK_ENST00000417379.1_Missense_Mutation_p.R192H NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 295 Protein kinase. integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CGCGATCCAGCGCAGAGGCAC 0.667000 7 14 0 0 1 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6438571 6438571 + Silent SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:6438571G>C ENST00000162749.2 - 10 1574 c.1275C>G c.(1273-1275)ctC>ctG p.L425L TNFRSF1A_ENST00000540022.1_Silent_p.L382L NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A 425 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 CCATGTCGCGGAGCACGCGTC 0.736000 6 5 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28672097 28672097 + Missense_Mutation SNP C C G rs140856220 TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr18:28672097C>G ENST00000280904.6 - 3 764 c.321G>C c.(319-321)aaG>aaC p.K107N DSC2_ENST00000251081.6_Missense_Mutation_p.K107N NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 107 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CAAATATTTTCTTCTTTTCTT 0.338000 7 44 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39003117 39003117 + Missense_Mutation SNP G G A rs150230127 TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr19:39003117G>A ENST00000355481.4 + 63 9597 c.9466G>A c.(9466-9468)Gtc>Atc p.V3156I RYR1_ENST00000359596.3_Missense_Mutation_p.V3156I|RYR1_ENST00000360985.3_Missense_Mutation_p.V3156I NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3156 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGGAGATGACGTCATCCGTAA 0.622000 22 41 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26091112 26091112 + Silent SNP G G A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr17:26091112G>A ENST00000313735.6 - 21 2720 c.2487C>T c.(2485-2487)acC>acT p.T829T NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 829 FAD-binding FR-type. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CCAGGAAGTAGGTGAGGGCCT 0.617000 3 19 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538843 27538843 + RNA SNP G G T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr10:27538843G>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA GTCTCAGCTGGGGCCTCCTGC 0.512000 40 80 2.32173e-10 2.52362e-10 1 1 0 COQ5 84274 broad.mit.edu 37 12 120941680 120941680 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:120941680G>C ENST00000288532.6 - 7 931 c.891C>G c.(889-891)ttC>ttG p.F297L COQ5_ENST00000445328.2_Missense_Mutation_p.F223L NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 297 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCATGTCCTTGAACTCTTCCT 0.413000 23 58 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37922071 37922071 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr17:37922071C>G ENST00000346872.3 - 8 1563 c.1502G>C c.(1501-1503)aGa>aCa p.R501T IKZF3_ENST00000583368.1_Missense_Mutation_p.R254T|IKZF3_ENST00000535189.1_Missense_Mutation_p.R467T|IKZF3_ENST00000467757.1_Missense_Mutation_p.R445T|IKZF3_ENST00000439167.2_Missense_Mutation_p.R428T|IKZF3_ENST00000439016.2_Missense_Mutation_p.R406T|IKZF3_ENST00000394189.2_Missense_Mutation_p.R319T|IKZF3_ENST00000377944.3_Missense_Mutation_p.R358T|IKZF3_ENST00000377945.3_Missense_Mutation_p.R367T|IKZF3_ENST00000377952.2_Missense_Mutation_p.R280T|IKZF3_ENST00000377958.2_Missense_Mutation_p.R414T|IKZF3_ENST00000350532.3_Missense_Mutation_p.R462T|IKZF3_ENST00000346243.3_Missense_Mutation_p.R423T|IKZF3_ENST00000351680.3_Missense_Mutation_p.R462T NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 501 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GTGTTCTCCTCTGGCTATGTG 0.483000 19 83 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102296381 102296381 + Frame_Shift_Del DEL A A - TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr1:102296381delA ENST00000370103.4 - 3 432 c.219delT c.(217-219)gtfs p.V73fs OLFM3_ENST00000359814.3_Frame_Shift_Del_p.V93fs|OLFM3_ENST00000338858.5_Frame_Shift_Del_p.V93fs|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 93 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) ACATGTTCTGAACCTGTTGAA 0.343 17 65 --- --- --- --- COL4A4 1286 broad.mit.edu 37 2 227895306 227895318 + Splice_Site DEL CAGGTGCTCCTGA CAGGTGCTCCTGA - TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr2:227895306_227895318delCAGGTGCTCCTGA ENST00000396625.3 - 41 4025_4033 c.3817_splice c.e41-1 p.A1273_splice COL4A4_ENST00000329662.7_Splice_Site_p.A1273_splice NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1273 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTGGAGGCCCAGGTGCTCCTGACCACAGAGAA 0.540 9 31 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187628651 187628652 + Frame_Shift_Ins INS - - A TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr4:187628651_187628652insA ENST00000441802.2 - 2 2539_2540 c.2330_2331insT c.(2329-2331)ttcfs p.F777fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 777 Cadherin 6. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAAGAGGAGATAAAATTTTCAG 0.436 HNSCC(5;0.00058) 31 72 --- --- --- --- TENC1 23371 broad.mit.edu 37 12 53447799 53447802 + Splice_Site DEL GTAA GTAA - TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:53447799_53447802delGTAA ENST00000314250.6 + 6 640 c.e6+1 RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000552570.1_Splice_Site|RP11-983P16.4_ENST00000551890.1_RNA|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Splice_Site|TENC1_ENST00000451358.1_Splice_Site|TENC1_ENST00000379902.3_Splice_Site|TENC1_ENST00000549700.1_Splice_Site|TENC1_ENST00000314276.3_Splice_Site NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CTCTGCCCAGGTAAGTGAGGGTGC 0.627 OREG0021855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 31 --- --- --- --- CDK4 1019 broad.mit.edu 37 12 58145293 58145294 + Frame_Shift_Ins INS - - G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr12:58145293_58145294insG ENST00000257904.6 - 2 572_573 c.207_208insC c.(205-210)ccatgtfs p.C70fs CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000312990.6_Frame_Shift_Ins_p.C70fs NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 70 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CGGACAACATTGGGATGCTCAA 0.564 Mis melanoma Hereditary Melanoma 26 69 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7572959 7572962 + Frame_Shift_Del DEL TGAG TGAG - rs150842067 TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr17:7572959_7572962delTGAG ENST00000269305.4 - 11 1336_1339 c.1147_1150delCTCA c.(1147-1152)tgfs p.LM383fs TP53_ENST00000445888.2_Frame_Shift_Del_p.LM383fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 383 Basic (repression of DNA-binding).|Interaction with CARM1. activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(1)|p.L383F(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCTTGAACATGAGTTTTTTATGG 0.529 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 22 130 --- --- --- --- CTBP2P3 220147 broad.mit.edu 37 18 58330742 58330742 + RNA DEL C C - TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c269ecd1-5a4e-43a7-a658-970a52ca8776 9efb8636-73b0-41db-92ef-e70e1bf83e44 g.chr18:58330742delC ENST00000591869.1 - 0 228 CCAGGCATGGCCAGAAGGCAC 0.612 2 4 --- --- --- ---