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 CCT8 10694 broad.mit.edu 37 21 30440001 30440001 + Missense_Mutation SNP A A G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr21:30440001A>G ENST00000286788.4 - 4 463 c.257T>C c.(256-258)aTt>aCt p.I86T CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000470450.1_5'UTR NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 86 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 AGCCATTACAATCATTTTTGC 0.368000 6 400 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31740382 31740382 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr22:31740382G>A ENST00000266269.5 - 1 1836 c.1207C>T c.(1207-1209)Cgg>Tgg p.R403W PATZ1_ENST00000351933.4_Missense_Mutation_p.R403W|PATZ1_ENST00000215919.3_Missense_Mutation_p.R403W|PATZ1_ENST00000405309.3_Missense_Mutation_p.R403W NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 403 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 TCATGGGACCGCACATGGTAG 0.592000 5 430 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 8 265 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127622522 127622522 + Silent SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:127622522T>C ENST00000508053.1 - 61 7874 c.6900A>G c.(6898-6900)gaA>gaG p.E2300E FBN2_ENST00000262464.4_Silent_p.E2300E P35556 FBN2_HUMAN fibrillin 2 2300 EGF-like 39; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CGTGTAACCCTTCAGCACATT 0.433000 5 220 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16295884 16295884 + Missense_Mutation SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:16295884C>T ENST00000205557.7 - 9 1179 c.1150G>A c.(1150-1152)Gcc>Acc p.A384T ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 384 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCAGTGATGGCCGACCGCAAC 0.572000 8 516 0 0 1 0 0 HMGB1 3146 broad.mit.edu 37 13 31035512 31035512 + Missense_Mutation SNP T T A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr13:31035512T>A ENST00000405805.1 - 5 1570 c.630A>T c.(628-630)gaA>gaT p.E210D HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR P09429 HMGB1_HUMAN high mobility group box 1 210 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) CATCAtcatcttcttcttcat 0.378000 5 194 0 0 1 0 0 MYOG 4656 broad.mit.edu 37 1 203054698 203054698 + Missense_Mutation SNP C C A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:203054698C>A ENST00000241651.4 - 1 466 c.392G>T c.(391-393)cGc>cTc p.R131L NM_002479.4 NP_002470.2 P15173 MYOG_HUMAN myogenin (myogenic factor 4) 131 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1) 12 GGCCTGGAGGCGCTCGATGTA 0.672000 11 348 0.000978159 0.000994738 1 1 0 INPP5K 51763 broad.mit.edu 37 17 1401275 1401275 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:1401275G>A ENST00000406424.4 - 10 1550 c.690C>T c.(688-690)taC>taT p.Y230Y INPP5K_ENST00000421807.2_Silent_p.Y306Y|INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y NM_001135642.1 NP_001129114.1 Q9BT40 INP5K_HUMAN inositol polyphosphate-5-phosphatase K 306 Catalytic (Potential). actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding endometrium(1)|large_intestine(7)|lung(3)|skin(1) 12 CGCTGATGCCGTACGTCATGT 0.607000 6 925 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41719747 41719747 + Missense_Mutation SNP G G T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr21:41719747G>T ENST00000400454.1 - 6 1537 c.1060C>A c.(1060-1062)Ctc>Atc p.L354I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 354 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCAGGGTTGAGGATTTCACCA 0.498000 53 1477 6.50621e-10 6.88893e-10 1 1 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:4619828A>C ENST00000269260.2 + 5 515 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000572457.1_5'UTR NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 13 66 0 0 1 0 0 COX16 51241 broad.mit.edu 37 14 70826257 70826257 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:70826257G>A ENST00000389912.6 - 1 191 c.48C>T c.(46-48)ctC>ctT p.L16L RP11-718G2.3_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR NM_016468.6 NP_057552.1 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) large_intestine(1)|lung(2) 3 CTCCATAGCCGAGAGTCTTGT 0.577000 14 285 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47241557 47241557 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:47241557G>A ENST00000300404.2 + 8 1113 c.1054G>A c.(1054-1056)Gta>Ata p.V352I B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V266I|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V292I NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 352 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) AGACTTGACCGTAATAGTGGC 0.488000 6 980 0 0 1 0 0 IGHV3-13 0 broad.mit.edu 37 14 106586383 106586383 + RNA SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:106586383C>T ENST00000390602.2 - 0 181 TCAGGGACCCCCCAGGCTGTA 0.562000 6 855 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46939361 46939361 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:46939361G>A ENST00000313049.5 + 4 533 c.330G>A c.(328-330)ccG>ccA p.P110P PTH1R_ENST00000449590.1_Silent_p.P110P|PTH1R_ENST00000430002.2_Silent_p.P110P|PTH1R_ENST00000418619.1_Silent_p.P110P|PTH1R_ENST00000490109.1_3'UTR Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 110 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 CCTGTCTGCCGGAATGGGACC 0.572000 7 221 0 0 1 0 0 SLC38A3 10991 broad.mit.edu 37 3 50252865 50252865 + RNA SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:50252865T>C ENST00000420502.1 + 0 500 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) TCCATCCACCTGCTACTCAAG 0.587000 9 482 0 0 1 0 0 IQCJ 654502 broad.mit.edu 37 3 158983022 158983022 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:158983022G>A ENST00000482126.1 + 4 334 c.229G>A c.(229-231)Ggg>Agg p.G77R IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.G104R|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron NM_001197100.1 NP_001184029.1 IQ motif containing J cervix(1)|endometrium(2)|large_intestine(2)|lung(10) 15 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) GGCCCCTGTTGGGAAGATTCA 0.448000 22 619 0 0 1 0 0 FAM86C2P 0 broad.mit.edu 37 11 67564228 67564228 + RNA SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:67564228C>T ENST00000528089.1 - 0 912 GAGGAGCCCGCTGGTGCTCCC 0.627000 5 281 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 11 979 0 0 1 0 0 AREL1 9870 broad.mit.edu 37 14 75139533 75139533 + Splice_Site SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:75139533C>T ENST00000356357.4 - 11 1938 c.e11+1 AREL1_ENST00000557401.1_Splice_Site NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 ATTTTACCTACCGATTCCAAC 0.403000 8 847 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43619215 43619215 + Silent SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr10:43619215C>T ENST00000355710.3 + 17 3130 c.2898C>T c.(2896-2898)acC>acT p.T966T RET_ENST00000340058.5_Silent_p.T966T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 966 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.T966T(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TTCTGAAGACCGGCCACCGGA 0.602000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 6 502 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 7 662 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76497387 76497387 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:76497387G>A ENST00000389840.5 - 35 5444 c.5320C>T c.(5320-5322)Cgg>Tgg p.R1774W DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R1783W dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAGCGATGCCGGAGCTGGGCC 0.582000 4 257 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36778971 36778971 + Missense_Mutation SNP C C G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:36778971C>G ENST00000416516.2 - 2 1670 c.1180G>C c.(1180-1182)Ggc>Cgc p.G394R NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 394 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TCCTCCTTGCCCTTGAGTCTG 0.507000 11 302 0 0 1 0 0 VIPAS39 63894 broad.mit.edu 37 14 77917637 77917637 + Missense_Mutation SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:77917637C>T ENST00000553888.1 - 4 746 c.236G>A c.(235-237)gGc>gAc p.G79D VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog GTGGGTTGAGCCGCTATTACC 0.483000 7 968 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70989431 70989431 + Missense_Mutation SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:70989431T>C ENST00000256389.3 - 2 2438 c.2194A>G c.(2194-2196)Atg>Gtg p.M732V RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 682 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) AATCCTTCCATGTTGTTCTTA 0.428000 6 796 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179665290 179665290 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:179665290G>A ENST00000589042.1 - 4 639 c.415C>T c.(415-417)Cgg>Tgg p.R139W TTN_ENST00000360870.5_Missense_Mutation_p.R139W|TTN_ENST00000359218.5_Missense_Mutation_p.R139W|TTN_ENST00000342992.6_Missense_Mutation_p.R139W|TTN_ENST00000591111.1_Missense_Mutation_p.R139W|TTN_ENST00000342175.6_Missense_Mutation_p.R139W|TTN_ENST00000460472.2_Missense_Mutation_p.R139W NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 139 Ig-like 2. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTCCATCCCGGTAGAACTTC 0.507000 6 614 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156981 26156981 + Missense_Mutation SNP A A T rs142089484 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:26156981A>T ENST00000304218.3 + 1 423 c.363A>T c.(361-363)aaA>aaT p.K121N NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 121 nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 CTAAGGCTAAAAAGGCAGGCG 0.642000 17 160 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32155509 32155509 + Missense_Mutation SNP T T A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:32155509T>A ENST00000375050.4 - 5 1055 c.785A>T c.(784-786)tAt>tTt p.Y262F NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 262 transcription factor binding p.Y262F(3) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GGAGTAGAAATACTCATTTAG 0.517000 4 90 0 0 1 0 0 KLHL36 79786 broad.mit.edu 37 16 84695471 84695471 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:84695471G>A ENST00000564996.1 + 5 1724 c.1583G>A c.(1582-1584)cGc>cAc p.R528H KLHL36_ENST00000258157.5_Missense_Mutation_p.R465H NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 528 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CAGTGGACCCGCGTGGCGCCG 0.657000 15 125 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75013810 75013810 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr15:75013810G>A ENST00000379727.3 - 4 1185 c.987C>T c.(985-987)agC>agT p.S329S CYP1A1_ENST00000567032.1_Silent_p.S329S|CYP1A1_ENST00000395049.4_Silent_p.S329S|CYP1A1_ENST00000395048.2_Silent_p.S329S|CYP1A1_ENST00000564596.1_Silent_p.S68S P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 329 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) AATACATGAGGCTCCAGGAGA 0.542000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 43 265 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127323603 127323603 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:127323603G>A ENST00000265056.7 + 3 633 c.389G>A c.(388-390)cGc>cAc p.R130H NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 130 Interaction with MYST2 (By similarity). cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GGCCTGGGCCGCATGCGCCGT 0.677000 4 85 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269953 1269953 + Missense_Mutation SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:1269953T>C ENST00000447027.1 + 31 11910 c.11852T>C c.(11851-11853)aTc>aCc p.I3951T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.I3948T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3948 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ccatcactgatcaccacggcc 0.617000 4 65 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20108795 20108795 + Missense_Mutation SNP G G T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:20108795G>T ENST00000395530.2 + 2 1398 c.1190G>T c.(1189-1191)cGc>cTc p.R397L SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.R397L|SPECC1_ENST00000395525.3_Missense_Mutation_p.R397L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Missense_Mutation_p.R478L|SPECC1_ENST00000261503.5_Missense_Mutation_p.R478L|SPECC1_ENST00000395527.4_Missense_Mutation_p.R478L NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 478 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) GAACAGGGCCGCTTTGAAAGA 0.428000 16 413 7.07596e-05 7.23678e-05 1 1 0 ROBO2 6092 broad.mit.edu 37 3 77645801 77645801 + Missense_Mutation SNP T T A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:77645801T>A ENST00000461745.1 + 19 3654 c.2754T>A c.(2752-2754)gaT>gaA p.D918E ROBO2_ENST00000487694.3_Missense_Mutation_p.D934E|ROBO2_ENST00000332191.8_Missense_Mutation_p.D918E NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 918 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATGCTGGTGATCCCAGCTATC 0.453000 85 605 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 6 552 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 5 276 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19067868 19067868 + Missense_Mutation SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:19067868C>T ENST00000421369.3 + 14 2104 c.1546C>T c.(1546-1548)Cct>Tct p.P516S TMC7_ENST00000569532.1_Missense_Mutation_p.P626S|TMC7_ENST00000304381.5_Missense_Mutation_p.P626S NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 626 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TGGCAGCATCCCTTCCTCGAA 0.577000 127 191 0 0 1 0 0 HBP1 26959 broad.mit.edu 37 7 106822943 106822943 + Missense_Mutation SNP C C A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr7:106822943C>A ENST00000222574.4 + 3 481 c.295C>A c.(295-297)Cca>Aca p.P99T HBP1_ENST00000485846.1_Missense_Mutation_p.P99T|HBP1_ENST00000468410.1_Missense_Mutation_p.P99T NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 99 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 CTCAGACATACCAGAAACTAC 0.428000 13 466 5.50884e-06 5.6988e-06 1 1 0 PHF13 148479 broad.mit.edu 37 1 6681519 6681519 + Missense_Mutation SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:6681519C>T ENST00000377648.4 + 4 1107 c.725C>T c.(724-726)gCc>gTc p.A242V PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 242 Interaction with trimethylated histone H3 (H3K4). cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) AAGCCATTTGCCGGCCGCCCC 0.507000 5 363 0 0 1 0 0 MTMR8 55613 broad.mit.edu 37 X 63569828 63569828 + Silent SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chrX:63569828C>T ENST00000374852.3 - 5 658 c.591G>A c.(589-591)gaG>gaA p.E197E MTMR8_ENST00000453546.1_Silent_p.E197E NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 197 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 TTACATTGTTCTCTTTGTAGA 0.403000 5 211 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128689 152128689 + Missense_Mutation SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:152128689C>T ENST00000316073.3 - 3 950 c.886G>A c.(886-888)Ggt>Agt p.G296S NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 296 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCCGTCTGACCGTAGTGGGAA 0.498000 17 2387 0 0 1 0 0 EPS15 2060 broad.mit.edu 37 1 51910708 51910708 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:51910708G>A ENST00000371733.3 - 11 903 c.807C>T c.(805-807)tgC>tgT p.C269C EPS15_ENST00000371730.2_Silent_p.C269C NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 269 EH 3. 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?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 CCTTTGTGTCGCATAATGACC 0.388000 T MLL ALL 5 432 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156982 26156982 + Nonsense_Mutation SNP A A T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:26156982A>T ENST00000304218.3 + 1 424 c.364A>T c.(364-366)Aag>Tag p.K122* NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 122 nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 TAAGGCTAAAAAGGCAGGCGC 0.647000 18 156 0 0 1 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124228837 124228837 + Silent SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr12:124228837T>C ENST00000330342.3 + 11 1527 c.1279T>C c.(1279-1281)Ttg>Ctg p.L427L NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 427 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) ATTTGCCCTCTTGTTGGTGTT 0.388000 8 652 0 0 1 0 0 YWHAE 7531 broad.mit.edu 37 17 1303373 1303373 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:1303373G>A ENST00000264335.8 - 1 299 c.32C>T c.(31-33)gCg>gTg p.A11V YWHAE_ENST00000571732.1_5'UTR|YWHAE_ENST00000575977.1_Missense_Mutation_p.A11V|YWHAE_ENST00000573026.1_Missense_Mutation_p.A11V|YWHAE_ENST00000498643.1_5'UTR NM_006761.4 NP_006752.1 P62258 1433E_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 11 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding p.A11V(2) kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) GGCCAGCTTCGCCTGGTACAC 0.657000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 160 272 0 0 1 0 0 LYPD6B 130576 broad.mit.edu 37 2 150071135 150071135 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:150071135G>A ENST00000409642.3 + 7 936 c.535G>A c.(535-537)Gta>Ata p.V179I LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000409029.1_Missense_Mutation_p.V155I NM_177964.3 NP_808879.2 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 155 anchored to membrane|plasma membrane endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 AGTGTTTGCCGTAATGCACGC 0.483000 6 733 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 5 295 0 0 1 0 0 INTS6 26512 broad.mit.edu 37 13 51956195 51956195 + Silent SNP A A G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr13:51956195A>G ENST00000311234.4 - 10 1717 c.1245T>C c.(1243-1245)taT>taC p.Y415Y INTS6_ENST00000497989.1_Silent_p.Y237Y|INTS6_ENST00000425000.1_Intron|INTS6_ENST00000490542.1_Silent_p.Y99Y|INTS6_ENST00000398119.2_Silent_p.Y402Y|INTS6_ENST00000463928.1_Intron NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 415 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) TTGTCTTCAAATAACTTTCAA 0.393000 12 292 0 0 1 0 0 AKAP5 9495 broad.mit.edu 37 14 64935683 64935683 + Missense_Mutation SNP G G C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:64935683G>C ENST00000320636.5 + 1 1859 c.571G>C c.(571-573)Ggt>Cgt p.G191R ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.G191R|ZBTB25_ENST00000555220.1_Intron P24588 AKAP5_HUMAN A kinase (PRKA) anchor protein 5 191 energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1) 13 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) ACGGAAAGATGGTGATGAGGT 0.408000 6 492 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101553424 101553424 + Silent SNP G G T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr10:101553424G>T ENST00000370449.4 + 4 563 c.450G>T c.(448-450)ctG>ctT p.L150L ABCC2_ENST00000370434.1_Silent_p.L150L|ABCC2_ENST00000496621.1_3'UTR NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 150 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity p.L150L(1) NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTCAGACTCTGATCCGGACAC 0.448000 125 178 6.44133e-54 6.98457e-54 1 1 0 ISL1 3670 broad.mit.edu 37 5 50680467 50680467 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:50680467G>A ENST00000230658.7 + 2 706 c.121G>A c.(121-123)Gca>Aca p.A41T ISL1_ENST00000511384.1_Missense_Mutation_p.A41T NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 41 LIM zinc-binding 1. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) ATGGCATGCGGCATGTTTGAA 0.418000 7 994 0 0 1 0 0 SOX10 6663 broad.mit.edu 37 22 38369614 38369614 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr22:38369614G>A ENST00000396884.2 - 4 1571 c.1289C>T c.(1288-1290)cCc>cTc p.P430L POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.P430L|POLR2F_ENST00000407936.1_Intron NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 430 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) CCGCTGCGAGGGCCCCATATA 0.637000 11 282 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389313 1389313 + Silent SNP T T C rs71299249 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr4:1389313T>C ENST00000324803.4 + 1 3974 c.1014T>C c.(1012-1014)tgT>tgC p.C338C NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 338 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CATGCCGATGTGGAGTGCCCG 0.662000 12 1506 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162579 90162579 + RNA SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:90162579C>T ENST00000564451.1 + 0 1932 TUBB8P7_ENST00000567960.1_RNA AGGAGTATGCCGAGGAGGAGG 0.512000 8 581 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T rs71905623 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chrX:66765161A>T ENST00000374690.3 + 1 697 c.173A>T c.(172-174)cAg>cTg p.Q58L AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 58 Gln-rich.|Modulating.|Poly-Gln. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.Q58L(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CTGCTGCTgcagcagcagcag 0.667000 Androgen Insensitivity Syndrome 5 81 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70903983 70903983 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:70903983G>A ENST00000264436.3 - 13 1982 c.1538C>T c.(1537-1539)gCg>gTg p.A513V ADD2_ENST00000407644.2_Missense_Mutation_p.A513V|ADD2_ENST00000430656.1_Missense_Mutation_p.A529V|ADD2_ENST00000413157.2_Missense_Mutation_p.A513V|ADD2_ENST00000355733.3_Missense_Mutation_p.A513V NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 513 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CTGAGGCCCCGCTGACTTCAC 0.602000 6 499 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1563731 1563731 + Missense_Mutation SNP A A G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:1563731A>G ENST00000572621.1 - 29 5045 c.4780T>C c.(4780-4782)Tgt>Cgt p.C1594R PRPF8_ENST00000304992.6_Missense_Mutation_p.C1594R Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1594 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CCCACCTGACATAAGTCCATA 0.522000 827 1280 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276588 186276588 + Silent SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:186276588T>C ENST00000445192.2 + 7 1782 c.1737T>C c.(1735-1737)acT>acC p.T579T PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 579 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T579T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTGCCCCAACTACCCCCAAGG 0.647000 17 432 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 4 28 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70070185 70070185 + Missense_Mutation SNP G G T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr4:70070185G>T ENST00000446444.1 - 5 1281 c.1273C>A c.(1273-1275)Ctg>Atg p.L425M RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 425 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 GCATTCAGCAGGTCTGTACTC 0.413000 7 987 1.28384e-07 1.35141e-07 1 1 0 AGAP5 729092 broad.mit.edu 37 10 75457349 75457349 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr10:75457349G>A ENST00000443782.2 - 1 290 c.165C>T c.(163-165)acC>acT p.T55T AGAP5_ENST00000374094.4_Silent_p.T55T|RP11-464F9.1_ENST00000399449.3_RNA A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 55 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.T55T(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 CAACTTCAACGGTCACCTCAG 0.582000 8 671 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 5 189 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26793020 26793020 + Missense_Mutation SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr15:26793020T>C ENST00000541819.2 - 10 1612 c.1510A>G c.(1510-1512)Ata>Gta p.I504V GABRB3_ENST00000400188.3_Missense_Mutation_p.I377V|GABRB3_ENST00000311550.5_Missense_Mutation_p.I448V|GABRB3_ENST00000545868.1_Missense_Mutation_p.I363V|GABRB3_ENST00000299267.4_Missense_Mutation_p.I448V P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 448 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CATCTGTCTATGGCATTCACA 0.428000 19 499 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 139981660 139981660 + Nonsense_Mutation SNP C C A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr9:139981660C>A ENST00000371589.4 + 1 282 c.209C>A c.(208-210)tCg>tAg p.S70* NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 70 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CGGCGGCGCTCGTGCTGGAGG 0.721000 3 57 0.00909568 0.00914649 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 14 502 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12875675 12875675 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr19:12875675G>A ENST00000264827.5 - 19 1944 c.1774C>T c.(1774-1776)Cgg>Tgg p.R592W HOOK2_ENST00000397668.3_Missense_Mutation_p.R594W NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 594 Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 TCCATGGCCCGCAAGTCCGCG 0.627000 OREG0025273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 675 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2266324 2266324 + Missense_Mutation SNP G G A rs146045413 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:2266324G>A ENST00000268989.3 + 6 745 c.568G>A c.(568-570)Gat>Aat p.D190N SGSM2_ENST00000574563.1_Missense_Mutation_p.D190N|SGSM2_ENST00000574650.1_3'UTR|SGSM2_ENST00000426855.2_Missense_Mutation_p.D190N NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 190 RUN. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CAAGACAGCCGATCACTACTG 0.627000 5 303 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 8 178 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 9 437 0 0 1 0 0 CGB7 94027 broad.mit.edu 37 19 49558229 49558229 + Missense_Mutation SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr19:49558229T>C ENST00000356213.4 - 4 2923 c.46A>G c.(46-48)Aca>Gca p.T16A CGB7_ENST00000596965.1_Missense_Mutation_p.T18A|CGB7_ENST00000377280.3_Missense_Mutation_p.T18A|CGB7_ENST00000597853.1_Missense_Mutation_p.T18A chorionic gonadotropin, beta polypeptide 7 p.T18A(1) lung(3)|urinary_tract(2) 5 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GATGCCCATGTCCCGCCCATG 0.657000 7 466 0 0 1 0 0 RP11-261C10.3 0 broad.mit.edu 37 1 243251439 243251439 + RNA SNP T T A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:243251439T>A ENST00000417964.1 - 0 663 aaaaaaaaaaTTCCTTTGGGA 0.458000 5 11 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32957064 32957064 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:32957064G>A ENST00000321639.5 + 6 1434 c.1106G>A c.(1105-1107)cGg>cAg p.R369Q NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 369 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CTGACTGGCCGGACAGTGGCC 0.577000 4 176 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285638 16285638 + Silent SNP G G A rs144617200 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:16285638G>A ENST00000302182.3 + 2 809 c.417G>A c.(415-417)aaG>aaA p.K139K UBB_ENST00000395837.1_Silent_p.K139K|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.K139K|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 139 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) ACATCCAGAAGGAGTCGACCC 0.567000 7 504 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266204 1266204 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:1266204G>A ENST00000447027.1 + 31 8161 c.8103G>A c.(8101-8103)acG>acA p.T2701T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2698T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2698 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ctacgatcacggccaccggct 0.622000 3 32 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1921002 1921002 + Silent SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:1921002C>T ENST00000399161.2 - 11 2340 c.1593G>A c.(1591-1593)ccG>ccA p.P531P MYT1L_ENST00000428368.2_Silent_p.P529P NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 531 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P531P(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TATCTTTGTGCGGGCATCCGG 0.562000 7 879 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 6 298 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54952583 54952583 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:54952583G>A ENST00000273286.5 - 3 1103 c.941C>T c.(940-942)gCg>gTg p.A314V CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.A238V|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 314 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) TGTGATTGCCGCATAGGTGCA 0.532000 7 807 0 0 1 0 0 HNRNPA0 10949 broad.mit.edu 37 5 137089489 137089489 + Silent SNP C C A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:137089489C>A ENST00000314940.4 - 1 550 c.267G>T c.(265-267)gcG>gcT p.A89A NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 89 nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CACCGGGCCGCGCCGAATCCT 0.657000 11 537 6.40141e-05 6.58431e-05 1 1 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 6 351 0 0 1 0 0 ZGPAT 84619 broad.mit.edu 37 20 62340496 62340496 + Silent SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr20:62340496C>T ENST00000328969.5 + 2 691 c.564C>T c.(562-564)tgC>tgT p.C188C ZGPAT_ENST00000355969.6_Silent_p.C188C|ZGPAT_ENST00000448100.1_Silent_p.C188C|ZGPAT_ENST00000357119.4_Silent_p.C188C|ZGPAT_ENST00000369967.3_Silent_p.C188C|ZGPAT_ENST00000490623.1_3'UTR NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 188 C -> R (in Ref. 3; BAC11317). negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) AGGGAAAGTGCCGCTTTAAGG 0.602000 6 543 0 0 1 0 0 GMPR2 51292 broad.mit.edu 37 14 24702713 24702713 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:24702713G>A ENST00000557854.1 + 2 447 c.170G>A c.(169-171)cGg>cAg p.R57Q GMPR2_ENST00000399440.2_Missense_Mutation_p.R39Q|GMPR2_ENST00000559104.1_Missense_Mutation_p.R57Q|GMPR2_ENST00000559836.1_Missense_Mutation_p.R39Q|GMPR2_ENST00000559910.1_Missense_Mutation_p.R39Q|GMPR2_ENST00000420554.2_Missense_Mutation_p.R57Q|GMPR2_ENST00000456667.3_Missense_Mutation_p.R39Q|GMPR2_ENST00000355299.4_Missense_Mutation_p.R39Q|GMPR2_ENST00000348719.7_Missense_Mutation_p.R39Q Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 39 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(265;0.0181) TTTTCATTTCGGAACTCAAAG 0.438000 5 516 0 0 1 0 0 HNRNPA0 10949 broad.mit.edu 37 5 137089488 137089488 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:137089488G>A ENST00000314940.4 - 1 551 c.268C>T c.(268-270)Cgg>Tgg p.R90W NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 90 nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCACCGGGCCGCGCCGAATCC 0.657000 12 529 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028454 100028454 + Missense_Mutation SNP G G C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr7:100028454G>C ENST00000310512.2 + 1 1201 c.813G>C c.(811-813)caG>caC p.Q271H MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 271 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCACCACCAGCAGCAGCAGG 0.647000 6 978 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141051740 141051740 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:141051740G>A ENST00000239440.4 - 10 1579 c.1514C>T c.(1513-1515)gCg>gTg p.A505V ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 505 Arf-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CCCACAGTCCGCACACTGCCG 0.612000 7 1326 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 5 295 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55247756 55247756 + Splice_Site SNP C C A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:55247756C>A ENST00000381298.2 - 13 2012 c.e13+1 IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000381287.4_Splice_Site NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) AGTTTTATTACCAGTTTCATT 0.289000 O hepatocellular ca 45 91 1.00001e-27 1.07785e-27 1 1 0 SLC18A3 6572 broad.mit.edu 37 10 50819229 50819229 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr10:50819229G>A ENST00000374115.3 + 1 883 c.443G>A c.(442-444)cGc>cAc p.R148H CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 148 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 TTCATCGACCGCATGAGCTAC 0.617000 7 746 0 0 1 0 0 PSMD2 5708 broad.mit.edu 37 3 184021144 184021144 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:184021144G>A ENST00000310118.4 + 9 1664 c.1106G>A c.(1105-1107)cGc>cAc p.R369H EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.R239H|PSMD2_ENST00000435761.1_Missense_Mutation_p.R210H NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 369 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) GACTCTGCCCGCATGAACCTG 0.493000 9 1060 0 0 1 0 0 USP14 9097 broad.mit.edu 37 18 211215 211215 + Nonsense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr18:211215G>A ENST00000261601.6 + 16 1507 c.1416G>A c.(1414-1416)tgG>tgA p.W472* USP14_ENST00000582707.1_Nonsense_Mutation_p.W437*|USP14_ENST00000383589.2_Nonsense_Mutation_p.W426*|USP14_ENST00000400266.3_Nonsense_Mutation_p.W461* NM_005151.3 NP_005142.1 P54578 UBP14_HUMAN ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 472 regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2) 11 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) GTGGAGACTGGCATATCGCTT 0.393000 5 458 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 5 106 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82387941 82387941 + Missense_Mutation SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr7:82387941T>C ENST00000333891.8 - 25 15716 c.15379A>G c.(15379-15381)Aga>Gga p.R5127G NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 5050 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGACTATTCTTTTTCTGAGA 0.383000 6 962 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 88 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67432919 67432919 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:67432919G>A ENST00000349015.3 - 7 981 c.543C>T c.(541-543)ccC>ccT p.P181P ALDH3B2_ENST00000530069.1_Silent_p.P181P NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 181 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) TCTGCAGGGCGGGCAGCAGCC 0.642000 6 736 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102783700 102783700 + Silent SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr4:102783700C>T ENST00000504592.1 + 8 1015 c.597C>T c.(595-597)ttC>ttT p.F199F BANK1_ENST00000508653.1_Silent_p.F81F|BANK1_ENST00000444316.2_Silent_p.F184F|BANK1_ENST00000322953.4_Silent_p.F214F|BANK1_ENST00000428908.1_Silent_p.F81F Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 214 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GTGAAATATTCATAATTTTGA 0.318000 27 234 0 0 1 0 0 ORMDL3 94103 broad.mit.edu 37 17 38079367 38079367 + Silent SNP C C A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:38079367C>A ENST00000394169.1 - 5 1818 c.324G>T c.(322-324)gtG>gtT p.V108V ORMDL3_ENST00000584220.1_Silent_p.V92V|ORMDL3_ENST00000304046.2_Silent_p.V108V|ORMDL3_ENST00000579695.1_Silent_p.V108V Q8N138 ORML3_HUMAN ORM1-like 3 (S. cerevisiae) 108 ceramide metabolic process integral to membrane|SPOTS complex protein binding endometrium(3)|kidney(1)|lung(1) 5 Colorectal(19;0.000442) Lung(15;0.0234) GCACTCACAGCACGATGGGTG 0.617000 25 530 1.37878e-21 1.46852e-21 1 1 0 WRN 7486 broad.mit.edu 37 8 30945390 30945390 + Missense_Mutation SNP A A T rs149565907 by1000genomes TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr8:30945390A>T ENST00000298139.5 + 12 1779 c.1530A>T c.(1528-1530)gaA>gaT p.E510D NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 510 Poly-Glu. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) aagaagaagaagatgatgaaa 0.373000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 5 330 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218478 134218478 + Silent SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr10:134218478C>T ENST00000305233.5 + 2 533 c.474C>T c.(472-474)aaC>aaT p.N158N PWWP2B_ENST00000368609.4_Silent_p.N158N NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 158 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) TGTCCCGCAACCGCGACCCGG 0.721000 5 65 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902301 1902301 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr20:1902301G>A ENST00000358771.4 + 3 849 c.697G>A c.(697-699)Gtc>Atc p.V233I SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 233 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V233I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGTGGCCCACGTCACCTTGCA 0.617000 6 311 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183713629 183713629 + Missense_Mutation SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr4:183713629T>C ENST00000511685.1 + 26 5927 c.5804T>C c.(5803-5805)cTa>cCa p.L1935P TENM3_ENST00000406950.2_Missense_Mutation_p.L1935P teneurin transmembrane protein 3 GGGCTGCTTCTACAAACAGCT 0.463000 6 462 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70319016 70319016 + Silent SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:70319016T>C ENST00000338508.4 - 33 5510 c.5511A>G c.(5509-5511)agA>agG p.R1837R SHANK2_ENST00000449833.2_Silent_p.R1241R|SHANK2_ENST00000409161.1_Silent_p.R1240R|SHANK2_ENST00000423696.2_Silent_p.R1457R Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1457 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CTATGTTCATTCTGTGCCCGA 0.502000 8 851 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107827554 107827554 + Missense_Mutation SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:107827554C>T ENST00000317357.5 + 3 1003 c.344C>T c.(343-345)cCt>cTt p.P115L NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 115 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) AGTGACTCACCTGCAGGGTCA 0.448000 8 967 0 0 1 0 0 C2 717 broad.mit.edu 37 6 31901955 31901955 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:31901955G>A ENST00000299367.5 + 6 1004 c.728G>A c.(727-729)cGt>cAt p.R243H CFB_ENST00000477310.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R243H|CFB_ENST00000556679.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R111H NM_000063.4 NP_000054.2 complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) AGCCTGGGCCGTAAAATCCAA 0.547000 6 872 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74640687 74640687 + Silent SNP T T C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:74640687T>C ENST00000422840.2 - 1 305 c.306A>G c.(304-306)ggA>ggG p.G102G GLG1_ENST00000205061.5_Silent_p.G102G|GLG1_ENST00000447066.2_Silent_p.G102G NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 102 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CCCCCGCTCCTCCCCGCCGGG 0.697000 10 61 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49059989 49059989 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:49059989G>A ENST00000262013.7 - 25 3341 c.3133C>T c.(3133-3135)Cgg>Tgg p.R1045W SPAG9_ENST00000357122.4_Missense_Mutation_p.R1031W|SPAG9_ENST00000505279.1_Missense_Mutation_p.R1035W|SPAG9_ENST00000510283.1_Missense_Mutation_p.R888W NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 1045 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) TGATGAGGCCGTCCAAGGTCT 0.398000 8 705 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 93225857 93225857 + Missense_Mutation SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr4:93225857C>T ENST00000282020.4 + 1 308 c.50C>T c.(49-51)aCc>aTc p.T17I GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.T17I NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 17 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGGTCTCGAACCTGGGACTCG 0.458000 5 298 0 0 1 0 0 HSF4 3299 broad.mit.edu 37 16 67199662 67199662 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:67199662G>A ENST00000264009.8 + 5 1238 c.273G>A c.(271-273)ctG>ctA p.L91L HSF4_ENST00000521374.1_Silent_p.L91L|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000421453.1_Silent_p.L91L|HSF4_ENST00000584272.1_Silent_p.L91L|RP11-5A19.5_ENST00000580114.1_3'UTR NM_001040667.2 NP_001035757.1 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 91 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) AGGGCGGCCTGCTTAGGCCGG 0.726000 8 146 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72840498 72840498 + Missense_Mutation SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:72840498C>T ENST00000293190.5 - 12 2646 c.2500G>A c.(2500-2502)Gcc>Acc p.A834T GRIN2C_ENST00000347612.4_Missense_Mutation_p.A834T NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 834 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TGCTCCCAGGCGAAGACCAGC 0.617000 6 471 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 6 546 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23530745 23530745 + Silent SNP T T G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:23530745T>G ENST00000262710.1 - 17 3687 c.3360A>C c.(3358-3360)ccA>ccC p.P1120P ACIN1_ENST00000555053.1_Silent_p.P1107P|ACIN1_ENST00000338631.6_Silent_p.P393P|ACIN1_ENST00000457657.1_Silent_p.P1080P|ACIN1_ENST00000605057.1_Silent_p.P1062P|ACIN1_ENST00000357481.2_Silent_p.P362P|ACIN1_ENST00000557515.1_Silent_p.P361P|ACIN1_ENST00000397341.3_Silent_p.P362P NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1120 Pro-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GGGGTGGGGGTGGGGGGTGCA 0.657000 7 92 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12389931 12389931 + Missense_Mutation SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:12389931C>T ENST00000358136.3 + 37 8373 c.8243C>T c.(8242-8244)gCc>gTc p.A2748V VPS13D_ENST00000356315.4_Missense_Mutation_p.A2748V NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2748 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAAGGCTATGCCCACTTCACC 0.418000 5 392 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44832738 44832738 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr19:44832738G>A ENST00000354340.4 - 4 1623 c.1572C>T c.(1570-1572)tgC>tgT p.C524C ZNF112_ENST00000536500.1_Silent_p.C547C|ZNF112_ENST00000337401.4_Silent_p.C530C NM_013380.3 NP_037512.3 zinc finger protein 112 AACCTTTGCCGCATATATTGC 0.423000 8 900 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716939 13716939 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr12:13716939G>A ENST00000279593.3 - 13 3442 c.3233C>T c.(3232-3234)gCc>gTc p.A1078V NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1078 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACGCCTCTTGGCGGCATTGCC 0.592000 9 200 0 0 1 0 0 ITGB1BP1 9270 broad.mit.edu 37 2 9558813 9558813 + Missense_Mutation SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:9558813C>T ENST00000360635.3 - 3 910 c.14G>A c.(13-15)gGc>gAc p.G5D ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D O14713 ITBP1_HUMAN integrin beta 1 binding protein 1 5 cell migration|cell-matrix adhesion|intracellular protein kinase cascade cytosol|lamellipodium|membrane|ruffle protein binding p.G5D(1) kidney(2)|large_intestine(2)|lung(2)|prostate(2) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.23) TCGTTTTTTGCCCTTGCGAAA 0.393000 7 1000 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130699432 130699432 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:130699432G>A ENST00000510168.1 + 20 2298 c.1748G>A c.(1747-1749)cGt>cAt p.R583H ATP2C1_ENST00000328560.8_Missense_Mutation_p.R583H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R583H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R583H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R617H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R583H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R528H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R578H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R583H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R567H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R567H P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 583 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TTAGCCAGTCGTCTGGGATTG 0.383000 Hailey-Hailey disease 7 286 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85982168 85982168 + Missense_Mutation SNP G G T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr10:85982168G>T ENST00000372113.4 - 3 1166 c.1161C>A c.(1159-1161)gaC>gaA p.D387E LRIT2_ENST00000538192.1_Missense_Mutation_p.D397E NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 387 Fibronectin type-III. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 CCTTAGAGGTGTCAGCCACTG 0.527000 6 283 3.09899e-07 3.22438e-07 1 1 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 6 310 0.00198382 0.00200611 1 1 0 KLK15 55554 broad.mit.edu 37 19 51330936 51330936 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr19:51330936G>A ENST00000326856.4 - 3 305 c.176C>T c.(175-177)gCg>gTg p.A59V KLK15_ENST00000596931.1_Missense_Mutation_p.A59V|KLK15_ENST00000301421.2_Missense_Mutation_p.A60V|KLK15_ENST00000416184.1_Missense_Mutation_p.A60V|KLK15_ENST00000598239.1_Missense_Mutation_p.A60V NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 60 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GCAGTGGGCCGCAGACAGCAC 0.627000 4 162 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42656112 42656112 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:42656112G>A ENST00000372901.1 + 45 5270 c.5012G>A c.(5011-5013)gGc>gAc p.G1671D UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.G1671D Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1671 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TCTGGAGTGGGCATCTTCCTG 0.527000 6 728 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111688 57111688 + Missense_Mutation SNP A A G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr12:57111688A>G ENST00000454682.1 - 3 3907 c.3626T>C c.(3625-3627)cTa>cCa p.L1209P NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGGGGTAGCTAGACCTCCTTT 0.637000 T BCL6 NHL 6 700 0 0 1 0 0 KRTAP9-2 83899 broad.mit.edu 37 17 39383275 39383275 + Silent SNP C C G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:39383275C>G ENST00000377721.3 + 1 376 c.369C>G c.(367-369)ccC>ccG p.P123P KRTAP9-2_ENST00000455970.2_Silent_p.P107P NM_031961.2 NP_114167.2 Q9BYQ4 KRA92_HUMAN keratin associated protein 9-2 123 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTACTACCCCACGACTGTCT 0.627000 8 741 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43529791 43529791 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr21:43529791G>A ENST00000400427.1 + 10 1819 c.1423G>A c.(1423-1425)Gca>Aca p.A475T UMODL1_ENST00000400424.1_Missense_Mutation_p.A475T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A547T|UMODL1_ENST00000408910.2_Missense_Mutation_p.A547T NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 547 SEA 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CCCCTCCCGCGCAGGCCGGGC 0.677000 5 220 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122303575 122303575 + Missense_Mutation SNP A A C TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr7:122303575A>C ENST00000334010.7 - 3 923 c.502T>G c.(502-504)Tgt>Ggt p.C168G CADPS2_ENST00000412584.2_Missense_Mutation_p.C168G|CADPS2_ENST00000313070.7_Missense_Mutation_p.C168G|CADPS2_ENST00000449022.2_Missense_Mutation_p.C168G NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 168 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding p.C168G(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TTAGCAGAACACCCTCCACTC 0.373000 11 95 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 4 69 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651423 1651423 + Missense_Mutation SNP G G C rs76164438 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:1651423G>C ENST00000399676.2 + 1 391 c.353G>C c.(352-354)gGc>gCc p.G118A NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 118 8 X 4 AA repeats of C-C-X-P. Missing (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament p.G118A(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TCCAAGGGGGGCTGTGGCTCC 0.701000 6 227 0 0 1 0 0 FAM149A 25854 broad.mit.edu 37 4 187074872 187074872 + Missense_Mutation SNP G G A rs140771382 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr4:187074872G>A ENST00000356371.5 + 5 1033 c.1033G>A c.(1033-1035)Gca>Aca p.A345T FAM149A_ENST00000503432.1_Missense_Mutation_p.A54T|FAM149A_ENST00000389354.5_Missense_Mutation_p.A54T|FAM149A_ENST00000502970.1_Missense_Mutation_p.A54T|FAM149A_ENST00000227065.4_Missense_Mutation_p.A54T|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000514153.1_Missense_Mutation_p.A54T A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 345 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) TCCTGCCTCCGCAGTCCACAG 0.507000 6 878 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917842 2917842 + Missense_Mutation SNP G G A rs149690257 byFrequency TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr19:2917842G>A ENST00000306908.5 + 4 1371 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q ZNF57_ENST00000523428.1_Missense_Mutation_p.R376Q|AC006277.2_ENST00000520090.2_RNA NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) AGATCATTCCGAGGTCATTTG 0.428000 6 545 0 0 1 0 0 RBL2 5934 broad.mit.edu 37 16 53524146 53524146 + Silent SNP C C T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:53524146C>T ENST00000262133.6 + 22 3491 c.3354C>T c.(3352-3354)tgC>tgT p.C1118C RBL2_ENST00000544545.1_Silent_p.C497C|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1118 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AAAGAATTTGCCCAGAAAATC 0.388000 5 425 0 0 1 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316570 39316570 + Missense_Mutation SNP T T C rs111563615 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:39316570T>C ENST00000390661.3 - 1 413 c.374A>G c.(373-375)tAc>tGc p.Y125C NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 125 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GGACACACAGTAGCTGGGGCA 0.667000 10 401 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 11 374 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53875859 53875859 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr12:53875859G>A ENST00000267079.2 - 14 2572 c.2347C>T c.(2347-2349)Cgg>Tgg p.R783W MAP3K12_ENST00000547488.1_Missense_Mutation_p.R816W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R816W NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 783 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 TCATCTGGCCGCTCATCAGTG 0.577000 OREG0021873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 583 0 0 1 0 0 LRCH1 23143 broad.mit.edu 37 13 47315978 47315978 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr13:47315978G>A ENST00000389798.3 + 19 2379 c.2182G>A c.(2182-2184)Gca>Aca p.A728T LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron NM_015116.2 NP_055931.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 728 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TGCTCTGTCCGCATAATGTCT 0.502000 6 872 0 0 1 0 0 VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 8 756 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 11 437 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 8 461 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 10 332 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 8 324 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115469133 115469134 + Frame_Shift_Ins INS - - A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:115469133_115469134insA ENST00000369522.3 + 23 2115_2116 c.1875_1876insA c.(1873-1878)ttaaaafs p.LK625fs SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.LK625fs NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 625 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAAGGCCTTGAAAAAAAAAGG 0.267 8 185 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:115537600_115537601insA ENST00000369522.3 + 32 3131_3132 c.2891_2892insA c.(2890-2892)aaafs p.K964fs SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs|SYCP1_ENST00000477590.1_3'UTR NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 18 352 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 10 425 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142720897 142720898 + RNA INS - - A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:142720897_142720898insA ENST00000595144.1 - 0 204_205 GCTCTTCCTCTAAGCCACTGGT 0.277 14 137 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 7 374 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 7 1168 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 11 1283 --- --- --- --- LCE4A 199834 broad.mit.edu 37 1 152681680 152681681 + In_Frame_Ins INS - - AGCTCTGGGGGCTGCTGT rs6143428 by1000genomes TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr1:152681680_152681681insAGCTCTGGGGGCTGCTGT ENST00000368777.1 + 2 385_386 c.129_130insAGCTCTGGGGGCTGCTGT c.(127-132)tcgctc>tcAGCTCTGGGGGCTGCTGTgctc p.43_44SL>SALGAAVL LCE4A_ENST00000335535.3_In_Frame_Ins_p.43_44SL>SALGAAVL Q5TA78 LCE4A_HUMAN late cornified envelope 4A 43 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) GCTGTGGCTCCAGCTCTGGGGG 0.599 7 626 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 13 329 --- --- --- --- PUM2 23369 broad.mit.edu 37 2 20482977 20482979 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:20482977_20482979delGCT ENST00000361078.2 - 11 1471_1473 c.1449_1451delAGC c.(1447-1452)gct>gc p.AA483del PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 483 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTCCTCCAGCTGCTGCTGCTG 0.424 8 443 --- --- --- --- HS1BP3 64342 broad.mit.edu 37 2 20840864 20840864 + Frame_Shift_Del DEL G G - rs77941615 byFrequency TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:20840864delG ENST00000402541.1 - 3 289 c.275delC c.(274-276)cafs p.P92fs HS1BP3_ENST00000304031.3_Frame_Shift_Del_p.P92fs|HS1BP3_ENST00000406618.3_Frame_Shift_Del_p.P92fs Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 92 PX. cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGGGTAGTGGGGGGAGGCT 0.537 8 1270 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 8 481 --- --- --- --- DUSP2 1844 broad.mit.edu 37 2 96809973 96809973 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:96809973delA ENST00000288943.4 - 3 735 c.650delT c.(649-651)tcfs p.F217fs NM_004418.3 NP_004409.1 Q05923 DUS2_HUMAN dual specificity phosphatase 2 217 endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity NS(1)|breast(1)|lung(2)|skin(1) 5 Ovarian(717;0.0228) CTTGTAGCGGAAAAGGCCCTC 0.602 7 642 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 11 267 --- --- --- --- IFIH1 64135 broad.mit.edu 37 2 163134715 163134716 + Splice_Site INS - - T rs150760072 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:163134715_163134716insT ENST00000263642.2 - 9 2159_2160 c.1765_splice c.e9+1 p.NC588_splice NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 588 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 CCTAAATTACCTTTTTTTTCCA 0.327 7 485 --- --- --- --- HIBCH 26275 broad.mit.edu 37 2 191161629 191161629 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:191161629delT ENST00000392332.3 - 3 268 c.129delA c.(127-129)aafs p.K43fs HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase 43 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) CCGTGCAACCTTTTTTTTCCA 0.353 8 362 --- --- --- --- AC010136.2 0 broad.mit.edu 37 2 218847717 218847717 + RNA DEL C C - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr2:218847717delC ENST00000450996.1 + 0 138 CCCCCCACCACCAATGCCACC 0.512 2 4 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 11 1636 --- --- --- --- EAF2 55840 broad.mit.edu 37 3 121573658 121573659 + Frame_Shift_Ins INS - - A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:121573658_121573659insA ENST00000273668.2 + 3 397_398 c.326_327insA c.(325-327)gaafs p.E109fs EAF2_ENST00000451944.2_Frame_Shift_Ins_p.E109fs NM_018456.4 NP_060926.2 Q96CJ1 EAF2_HUMAN ELL associated factor 2 109 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) AACATCACTGTAAAAAAAACAA 0.248 7 621 --- --- --- --- PDIA5 10954 broad.mit.edu 37 3 122869089 122869089 + Frame_Shift_Del DEL C C - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:122869089delC ENST00000316218.7 + 14 1246 c.1151delC c.(1150-1152)gcfs p.A384fs PDIA5_ENST00000467157.1_3'UTR NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 384 Thioredoxin 2.|Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) AGCCCTGAGGCCCCCCCGCCC 0.602 8 539 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 10 477 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 8 27 --- --- --- --- RP11-139K4.2 0 broad.mit.edu 37 3 182220015 182220016 + RNA DEL AG AG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr3:182220015_182220016delAG ENST00000489016.1 - 0 461 agggacagacagagagagagag 0.470 2 4 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 7 343 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986558 88986559 + Frame_Shift_Ins INS - - A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr4:88986558_88986559insA ENST00000237596.2 + 11 2217_2218 c.2151_2152insA c.(2149-2154)ctaaaafs p.LK717fs PKD2_ENST00000508588.1_Frame_Shift_Ins_p.LK135fs|PKD2_ENST00000502363.1_Frame_Shift_Ins_p.LK135fs|PKD2_ENST00000511337.1_3'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 717 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) AACTAAAACTGAAAAAAAATAC 0.386 8 573 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 17 510 --- --- --- --- BRD9 65980 broad.mit.edu 37 5 889776 889777 + Frame_Shift_Ins INS - - A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:889776_889777insA ENST00000323510.4 - 1 37_38 c.38_39insT c.(37-39)tctfs p.S13fs BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs Q9H8M2 BRD9_HUMAN bromodomain containing 9 0 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) ACAATTTAAGGAAAAAAAAATT 0.446 7 365 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 10 1474 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 11 513 --- --- --- --- CMYA5 202333 broad.mit.edu 37 5 79041149 79041151 + In_Frame_Del DEL GAA GAA - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:79041149_79041151delGAA ENST00000446378.2 + 4 10870_10872 c.10839_10841delGAA c.(10837-10842)gtg>gt p.VK3613del NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3613 B-box coiled-coil; BBC. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTGAGGAAGTGAAGAAGAAGAAG 0.448 8 295 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216457 149216459 + In_Frame_Del DEL GGA GGA - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:149216457_149216459delGGA ENST00000309241.5 + 8 2471_2473 c.2439_2441delGGA c.(2437-2442)ggg>gg p.GE813del PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 813 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) aggaagaaggggaggaggaggag 0.606 8 462 --- --- --- --- UNC5A 90249 broad.mit.edu 37 5 176301302 176301304 + In_Frame_Del DEL CAC CAC - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr5:176301302_176301304delCAC ENST00000329542.4 + 8 1387_1389 c.1113_1115delCAC c.(1111-1116)agc>ag p.ST371del UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 371 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGACCTCAGCACCACCACCACC 0.645 7 500 --- --- --- --- GABBR1 0 broad.mit.edu 37 6 29573436 29573438 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:29573436_29573438delCAG ENST00000377034.4 - 20 2682_2684 c.2347_2349delCTG c.(2347-2349)del p.L783del GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 783 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.L783M(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGAAGATTCCCAGCAGCAGCAGC 0.512 10 620 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30571900 30571900 + Frame_Shift_Del DEL G G - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:30571900delG ENST00000376511.2 - 14 1945 c.1393delC c.(1393-1395)ggfs p.R465fs NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 465 Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 ACCAGGGGCCGGGGGCACACC 0.582 7 1201 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975223 31975224 + RNA INS - - T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:31975223_31975224insT ENST00000342991.6 + 0 1346_1347 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTGGGCCGTGGTTTTTTTTGCT 0.614 7 877 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 10 171 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64394097 64394097 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:64394097delA ENST00000262043.3 + 4 814 c.474delA c.(472-474)acfs p.T158fs PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs Q92576 PHF3_HUMAN PHD finger protein 3 158 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAAGTAACACAAAAAAAGCAT 0.383 7 1074 --- --- --- --- GABRR2 2570 broad.mit.edu 37 6 89975427 89975429 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:89975427_89975429delAAG ENST00000402938.3 - 7 925_927 c.792_794delCTT c.(790-795)ttg>tt p.FL264del GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 289 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGTTTGGAGCAAGAAGAAGAAGA 0.517 8 359 --- --- --- --- WISP3 8838 broad.mit.edu 37 6 112389434 112389434 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:112389434delA ENST00000361714.1 + 4 715 c.670delA c.(670-672)aafs p.K226fs WISP3_ENST00000604763.1_Frame_Shift_Del_p.K208fs|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000230529.5_Frame_Shift_Del_p.K208fs|WISP3_ENST00000368663.3_Frame_Shift_Del_p.K185fs|WISP3_ENST00000368666.2_Frame_Shift_Del_p.K208fs O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 208 TSP type-1. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 13 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) ACTTATTTGGAAAAAAAAATG 0.333 9 271 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 512 integral to membrane CTGTTGAGCCTTTTTTTCAGA 0.294 10 827 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91732038 91732039 + Frame_Shift_Ins INS - - G rs143306820 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr7:91732038_91732039insG ENST00000359028.2 + 46 11465_11466 c.11240_11241insG c.(11239-11241)aggfs p.R3747fs AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3747 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTTGCCCGGATGGGGGGGCAGC 0.535 T BRAF papillary thyroid 8 1173 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr7:123332873_123332875delGGA ENST00000223023.4 - 9 1205_1207 c.873_875delTCC c.(871-876)ccc>cc p.PP293del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 293 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 gtgtggagggggaggaggaggag 0.567 8 480 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 11 880 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 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) TTCGTGTGCCTTTTTTTATTC 0.408 7 1222 --- --- --- --- DCAF13 25879 broad.mit.edu 37 8 104439486 104439487 + Frame_Shift_Ins INS - - T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr8:104439486_104439487insT ENST00000521971.1 + 4 590_591 c.510_511insT c.(508-513)atttttfs p.IF170fs DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.IF206fs|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000297579.5_Intron Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 TTGAGGTAATGTTTTTTTTTAA 0.277 8 235 --- --- --- --- MTSS1 9788 broad.mit.edu 37 8 125597329 125597329 + Splice_Site DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr8:125597329delT ENST00000518547.1 - 6 932 c.460_splice c.e6+1 p.K153_splice MTSS1_ENST00000378017.3_Splice_Site_p.K153_splice|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Splice_Site_p.K153_splice NM_014751.4 NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 153 IMD. K -> KVDTL (in Ref. 2; AK027015). actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AGGAGTTACCTTTTTTTGCTT 0.373 7 726 --- --- --- --- SLC46A2 57864 broad.mit.edu 37 9 115652769 115652769 + Frame_Shift_Del DEL C C - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr9:115652769delC ENST00000374228.4 - 1 424 c.193delG c.(193-195)ctfs p.A65fs NM_033051.3 NP_149040.3 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 65 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1) 18 TCCTCTAGAGCCCCCCGGGGC 0.627 7 798 --- --- --- --- SLC16A9 220963 broad.mit.edu 37 10 61414180 61414180 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr10:61414180delT ENST00000395348.3 - 5 1240 c.604delA c.(604-606)tafs p.I202fs SLC16A9_ENST00000395347.1_Frame_Shift_Del_p.I202fs NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 202 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 TCTGGAGCTATTTTTTTAGGC 0.378 7 746 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ggtggtggcagtggtggtggtgg 0.498 8 629 --- --- --- --- SCD 6319 broad.mit.edu 37 10 102107836 102107838 + In_Frame_Del DEL ACC ACC - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr10:102107836_102107838delACC ENST00000370355.2 + 2 424_426 c.43_45delACC c.(43-45)del p.T19del NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 19 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TAGCTCCTATACCACCACCACCA 0.581 7 802 --- --- --- --- AP2A2 161 broad.mit.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:970195delA ENST00000448903.2 + 3 304 c.163delA c.(163-165)aafs p.K57fs AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 57 Lipid-binding. axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity p.K57fs*24(1) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TGGCTATAGTAAAAAAAAGTA 0.488 7 692 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30034029 30034031 + In_Frame_Del DEL TGG TGG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:30034029_30034031delTGG ENST00000328224.6 - 2 1428_1430 c.195_197delCCA c.(193-198)cag>ca p.HQ65del NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 65 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCGCGTGACTGGTGGTGGTGGT 0.660 7 467 --- --- --- --- ATG16L2 89849 broad.mit.edu 37 11 72528863 72528865 + In_Frame_Del DEL AGG AGG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:72528863_72528865delAGG ENST00000321297.5 + 3 419_421 c.281_283delAGG c.(280-285)cag>c p.QE94del ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 94 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) GTGAAGTGGCAGGAGGAGGAGGA 0.591 7 197 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407177 89407177 + RNA DEL C C - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:89407177delC ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTTTTTTTTCCCCAATCTGG 0.303 7 180 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 16 1107 --- --- --- --- LINC00987 0 broad.mit.edu 37 12 9392739 9392740 + RNA INS - - TCTTCCTCCTCC rs71045240 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr12:9392739_9392740insTCTTCCTCCTCC ENST00000427111.3 + 0 141_142 NR_036466.1 caccatcaccttcttcctcccc 0.545 8 116 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGGGGGAGGGGGTGGTGGTGGTG 0.483 7 411 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 9 987 --- --- --- --- GOLGA2B 0 broad.mit.edu 37 12 100551828 100551830 + RNA DEL CCT CCT - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr12:100551828_100551830delCCT ENST00000397112.4 - 0 1625_1627 NR_036632.1 large_intestine(1)|lung(3) 4 GGCTGAGGCACCTCCTCCTCCTC 0.635 7 134 --- --- --- --- RASAL1 8437 broad.mit.edu 37 12 113565943 113565943 + Frame_Shift_Del DEL C C - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr12:113565943delC ENST00000546530.1 - 4 448 c.163delG c.(163-165)agfs p.E56fs RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000548055.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000446861.3_Frame_Shift_Del_p.E56fs NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 56 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 GTGTACTCCTCCCCCCAGAAG 0.617 7 1483 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 11 842 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 10 354 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23912864 23912864 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr13:23912864delT ENST00000382298.3 - 10 5739 c.5151delA c.(5149-5151)aafs p.K1717fs SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.K1717fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1717 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGAGCAGGATTTTTTTTTAA 0.358 10 316 --- --- --- --- RFC3 5983 broad.mit.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr13:34398063delA ENST00000380071.3 + 3 365 c.235delA c.(235-237)aafs p.K81fs RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 81 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GACTCCATCTAAAAAAAAAAT 0.269 14 283 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88329794 88329796 + In_Frame_Del DEL CGG CGG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr13:88329794_88329796delCGG ENST00000325089.6 + 2 2370_2372 c.2151_2153delCGG c.(2149-2154)tac>ta p.YG717del SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 717 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACAGCGTGTACGGCGGCGGCGGC 0.645 7 426 --- --- --- --- APEX1 328 broad.mit.edu 37 14 20925506 20925506 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:20925506delT ENST00000216714.3 + 5 1064 c.796delT c.(796-798)ttfs p.F266fs APEX1_ENST00000398030.4_Frame_Shift_Del_p.F266fs|APEX1_ENST00000557054.1_3'UTR|APEX1_ENST00000555414.1_Frame_Shift_Del_p.F266fs NM_001244249.1|NM_001641.3 NP_001231178.1|NP_001632.2 P27695 APEX1_HUMAN APEX nuclease (multifunctional DNA repair enzyme) 1 266 base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) TGCCTACACCTTTTGGACTTA 0.502 Other BER factors 7 834 --- --- --- --- SALL2 6297 broad.mit.edu 37 14 21991334 21991336 + In_Frame_Del DEL GGT GGT - rs113881459 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:21991334_21991336delGGT ENST00000327430.3 - 2 2820_2822 c.2526_2528delACC c.(2524-2529)cct>cc p.PP842del SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 842 Poly-Pro. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CAGGCTGTCAGGTGGTGGTGGTG 0.571 7 540 --- --- --- --- PCK2 5106 broad.mit.edu 37 14 24572757 24572757 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:24572757delT ENST00000545054.2 + 10 2023 c.1105delT c.(1105-1107)ttfs p.F370fs PCK2_ENST00000559250.1_Intron|PCK2_ENST00000216780.4_Frame_Shift_Del_p.F504fs|PCK2_ENST00000561286.1_Frame_Shift_Del_p.F370fs|PCK2_ENST00000558096.1_Frame_Shift_Del_p.F338fs|NRL_ENST00000561028.1_Intron Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 504 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) CATGCGGCCCTTTTTTGGCTA 0.577 7 588 --- --- --- --- RALGAPA1 253959 broad.mit.edu 37 14 36194270 36194270 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:36194270delT ENST00000258840.6 - 14 2216 c.1826delA c.(1825-1827)atfs p.N609fs RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000389698.3_Frame_Shift_Del_p.N609fs Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 609 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAAGGTCATATTTTTTTTCCC 0.378 9 702 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96783571 96783572 + Frame_Shift_Ins INS - - T TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:96783571_96783572insT ENST00000359933.4 - 20 4013_4014 c.3120_3121insA c.(3118-3123)aatagafs p.NR1040fs NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1040 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGAGAGTCTAATTTTTTTTTCC 0.371 10 384 --- --- --- --- IGHV3-48 0 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 11 1166 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25324325 25324325 + RNA DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr15:25324325delT ENST00000549804.2 + 0 1377 ACAACTGTCATTTTTTTTGAT 0.478 9 399 --- --- --- --- OCA2 4948 broad.mit.edu 37 15 28200305 28200305 + Splice_Site DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr15:28200305delT ENST00000354638.3 - 17 1996 c.1842_splice c.e17+1 p.K614_splice OCA2_ENST00000353809.5_Splice_Site_p.K590_splice|OCA2_ENST00000382996.2_Splice_Site_p.K614_splice NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 614 K -> E (in OCA2).|K -> N (in OCA2). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCTGGGTACCTTTTTTTGGAG 0.443 Oculocutaneous Albinism 7 876 --- --- --- --- FAM63B 54629 broad.mit.edu 37 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr15:59144132_59144134delGCT ENST00000559228.1 + 8 1787_1789 c.1705_1707delGCT c.(1705-1707)del p.A574del FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 574 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 ACAAGCAGCAGCTGCTGCTGCTG 0.468 7 475 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967246 64967247 + Frame_Shift_Ins INS - - A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr15:64967246_64967247insA ENST00000326648.3 + 4 2321_2322 c.2193_2194insA c.(2191-2196)gaaaaafs p.EK731fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 731 Poly-Lys. nucleus zinc ion binding p.K734fs*12(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAAAGAAAGACAAAAAAAAGAA 0.490 11 874 --- --- --- --- MYO9A 4649 broad.mit.edu 37 15 72190580 72190580 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr15:72190580delA ENST00000356056.5 - 25 4736 c.4264delT c.(4264-4266)atfs p.Y1422fs MYO9A_ENST00000424560.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.Y1403fs|MYO9A_ENST00000566885.1_Frame_Shift_Del_p.Y1042fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000563542.1_5'UTR NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1422 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGGGGGATATAAAAAAAAGTA 0.398 8 440 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 11 48 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 8 661 --- --- --- --- RP11-368J21.3 0 broad.mit.edu 37 16 22579763 22579764 + RNA DEL TT TT - rs112473041 by1000genomes TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:22579763_22579764delTT ENST00000550753.1 + 0 1976 NR_003676.2 tgtgtgtgtgtttgtttgtTTT 0.505 9 489 --- --- --- --- RP11-1166P10.8 0 broad.mit.edu 37 16 32127005 32127005 + RNA DEL C C - rs78871347 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:32127005delC ENST00000564145.1 - 0 456 GCGGCTTTTTCCCCCCACCGC 0.687 3 6 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 9 711 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 7 242 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68718504 68718504 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr16:68718504delA ENST00000264012.4 + 10 1745 c.1201delA c.(1201-1203)aafs p.K401fs CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 401 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TTTTGAGGCCAAAAACCAGCA 0.522 10 1733 --- --- --- --- EPN2 22905 broad.mit.edu 37 17 19232949 19232950 + Frame_Shift_Ins INS - - A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:19232949_19232950insA ENST00000314728.5 + 9 1884_1885 c.1400_1401insA c.(1399-1401)taafs p.*467fs EPN2_ENST00000347697.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000571254.1_Frame_Shift_Ins_p.*403fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.*175fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.*182fs|EPN2_ENST00000395620.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000395626.1_Frame_Shift_Ins_p.*467fs NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 467 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding p.T470fs*19(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CTTCGGACTTCAAAAAAAACAG 0.396 8 577 --- --- --- --- STAT5B 6777 broad.mit.edu 37 17 40370236 40370236 + Frame_Shift_Del DEL G G - rs144993426 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:40370236delG ENST00000293328.3 - 9 1270 c.1102delC c.(1102-1104)agfs p.Q368fs NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 368 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GCCTTCACCTGGGGGGGGTTC 0.577 9 306 --- --- --- --- TRIM25 7706 broad.mit.edu 37 17 54978862 54978862 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:54978862delT ENST00000316881.4 - 4 1054 c.1005delA c.(1003-1005)aafs p.K335fs TRIM25_ENST00000537230.1_Frame_Shift_Del_p.K335fs NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 335 Interaction with influenza A virus NS1. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) GGTGGATGCCTTTTATCAGCT 0.547 7 1992 --- --- --- --- ITGB4 3691 broad.mit.edu 37 17 73732157 73732158 + Frame_Shift_Del DEL GT GT - rs121912463 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr17:73732157_73732158delGT ENST00000200181.3 + 14 1870_1871 c.1683_1684delGT c.(1681-1686)cagtfs p.QC561fs ITGB4_ENST00000449880.2_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000584558.1_3'UTR NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 561 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCATGGGCCAGTGTGTGTGTGA 0.604 9 779 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 8 120 --- --- --- --- RP11-595B24.1 0 broad.mit.edu 37 18 19622068 19622068 + RNA DEL C C - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr18:19622068delC ENST00000584898.1 + 0 39 ctgaaaggtgccccccaccct 0.443 2 4 --- --- --- --- DENND1C 79958 broad.mit.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr19:6477251delG ENST00000381480.2 - 8 603 c.491delC c.(490-492)ctfs p.P164fs DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 164 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCCCCGGGTAGGGGGGGGGAT 0.672 11 281 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9057565 9057565 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr19:9057565delT ENST00000397910.4 - 3 30084 c.29881delA c.(29881-29883)gtfs p.S9962fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9964 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGGAGAACTTTTTTGGGTG 0.488 8 1368 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 9 46 --- --- --- --- ZIM3 0 broad.mit.edu 37 19 57646387 57646387 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr19:57646387delT ENST00000269834.1 - 5 1703 c.1318delA c.(1318-1320)ccfs p.T440fs NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCAGTATGGGTTTTTTTATGC 0.403 7 905 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr20:25657231_25657232delTG ENST00000376436.1 - 4 1231_1232 c.692_693delCA c.(691-693)afs p.T231fs ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000455791.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTTCTCTCCTGTGTGTGTGTT 0.510 7 557 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61512380 61512381 + Frame_Shift_Ins INS - - G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr20:61512380_61512381insG ENST00000266070.4 - 16 5252_5253 c.4927_4928insC c.(4927-4929)cccfs p.P1643fs DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1643 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGTGGCGGGGCGGGTGCCCTCC 0.728 8 105 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61537401 61537402 + Frame_Shift_Ins INS - - T rs140153728 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr20:61537401_61537402insT ENST00000266070.4 - 6 1750_1751 c.1425_1426insA c.(1423-1428)aaagacfs p.D476fs DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 476 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACTGTGGTCTCTTTTTTTTCTG 0.490 7 641 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661172 22661173 + RNA INS - - C rs7410785 TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chr22:22661172_22661173insC ENST00000426066.1 + 0 264_265 NR_027293.1 CATACAGGTTTTCCCCCCCCAC 0.411 7 172 --- --- --- --- FAM155B 27112 broad.mit.edu 37 X 68725672 68725672 + Frame_Shift_Del DEL A A - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chrX:68725672delA ENST00000252338.4 + 1 589 c.547delA c.(547-549)aafs p.K184fs NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 184 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 CCCCTCCGCCAAAAAAAACTT 0.592 7 212 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 13 356 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 7 516 --- --- --- --- GUCY2F 2986 broad.mit.edu 37 X 108619355 108619355 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chrX:108619355delT ENST00000218006.2 - 18 3483 c.3192delA c.(3190-3192)aafs p.K1064fs NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 1064 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 breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TCATGAAGCCTTTTTTCCCAA 0.418 7 679 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 9 278 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994114 140994116 + In_Frame_Del DEL CTC CTC - rs141900922 byFrequency TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chrX:140994114_140994116delCTC ENST00000285879.4 + 4 1210_1212 c.924_926delCTC c.(922-927)agc>ag p.SS312del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 312 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.483 HNSCC(15;0.026) 7 1097 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994639 140994641 + In_Frame_Del DEL CTC CTC - rs144357389 byFrequency TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chrX:140994639_140994641delCTC ENST00000285879.4 + 4 1735_1737 c.1449_1451delCTC c.(1447-1452)agc>ag p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.473 HNSCC(15;0.026) 8 756 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8bf3938-5f3e-430e-8353-e7d5d41b451b 7f130a3c-8efa-41a2-a092-380ae507db20 g.chrX:140994844_140994846delCCT ENST00000285879.4 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)del p.P553del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 HNSCC(15;0.026) 8 1107 --- --- --- ---