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 ANAPC4 29945 broad.mit.edu 37 4 25384881 25384881 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:25384881A>T ENST00000315368.3 + 4 377 c.e4-1 ANAPC4_ENST00000510092.1_Splice_Site NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) TTCTTGTTTTAGTTTTGGCCT 0.343000 6 27 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18918498 18918498 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:18918498C>T ENST00000317977.6 + 10 1597 c.1026C>T c.(1024-1026)ctC>ctT p.L342L SLC5A10_ENST00000395642.1_Silent_p.L342L|SLC5A10_ENST00000395643.2_Silent_p.L382L|SLC5A10_ENST00000395647.2_Silent_p.L425L|SLC5A10_ENST00000417251.2_Silent_p.L373L|SLC5A10_ENST00000395645.3_Silent_p.L409L A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 409 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 AGCGGGAGCTCCTGCTGGTGG 0.657000 3 51 0 0 1 0 0 SLC43A1 8501 broad.mit.edu 37 11 57256464 57256464 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:57256464T>A ENST00000278426.3 - 13 1691 c.e13-2 SLC43A1_ENST00000528450.1_Splice_Site NM_003627.5 NP_003618.1 O75387 LAT3_HUMAN solute carrier family 43 (amino acid system L transporter), member 1 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 GGTCACAAACTAAAACCAAAA 0.532000 10 257 0 0 1 0 0 SLC43A3 29015 broad.mit.edu 37 11 57182112 57182112 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:57182112A>T ENST00000395123.2 - 11 1340 c.1036T>A c.(1036-1038)Tac>Aac p.Y346N SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 346 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TCCTTCTGGTACTTCTGTTTA 0.547000 19 823 0 0 1 0 0 OMP 4975 broad.mit.edu 37 11 76814108 76814108 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:76814108C>T ENST00000529803.1 + 1 223 c.223C>T c.(223-225)Ccg>Tcg p.P75S CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 75 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 GCTGGACAAGCCGGGCAAGGT 0.622000 3 47 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57372286 57372286 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:57372286A>T ENST00000607273.1 + 8 780 c.e8-1 PRIM2_ENST00000389488.2_Splice_Site NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CCCTGCTTTTAGTTAACAGCC 0.428000 5 142 0 0 1 0 0 FTSJ3 117246 broad.mit.edu 37 17 61897195 61897195 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:61897195A>T ENST00000427159.2 - 21 3156 c.2511T>A c.(2509-2511)cgT>cgA p.R837R NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 837 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TTTGTTCCTTACGTTGCTGTG 0.537000 25 1217 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148012533 148012533 + Missense_Mutation SNP T T G rs144977899 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:148012533T>G ENST00000369219.1 - 12 1442 c.1426A>C c.(1426-1428)Aag>Cag p.K476Q Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 476 NBPF 5. cytoplasm p.E481D(1)|p.K476Q(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) CCAACATGCTTTTCCTCCAAT 0.448000 11 1558 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18534919 18534919 + Missense_Mutation SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:18534919C>A ENST00000336714.3 + 18 2465 c.2033C>A c.(2032-2034)cCc>cAc p.P678H SEC23B_ENST00000377465.1_Missense_Mutation_p.P678H|SEC23B_ENST00000377475.3_Missense_Mutation_p.P678H|SEC23B_ENST00000262544.2_Missense_Mutation_p.P678H NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 678 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 CAGGACATGCCCGAGTATGAA 0.483000 11 725 2.27111e-07 2.39988e-07 1 1 0 PRDM4 11108 broad.mit.edu 37 12 108127989 108127989 + Nonstop_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:108127989A>T ENST00000228437.5 - 12 2863 c.2404T>A c.(2404-2406)Taa>Aaa p.*802K NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 0 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 TTTTCCTTTTATTTATGTGCA 0.358000 5 207 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52067829 52067829 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:52067829C>T ENST00000361781.2 - 10 1934 c.975G>A c.(973-975)gcG>gcA p.A325A SGMS1_ENST00000429490.1_Silent_p.A156A NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 331 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 AGTGGTCATGCGCTAAGAGAA 0.507000 5 321 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38211143 38211143 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr13:38211143A>T ENST00000379705.3 - 11 3688 c.2831T>A c.(2830-2832)aTa>aAa p.I944K TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.I771K|TRPC4_ENST00000379679.1_Missense_Mutation_p.I771K|TRPC4_ENST00000379681.3_Missense_Mutation_p.I949K|TRPC4_ENST00000379673.2_Missense_Mutation_p.I795K|TRPC4_ENST00000447043.1_Missense_Mutation_p.I803K|TRPC4_ENST00000355779.2_Missense_Mutation_p.I803K|TRPC4_ENST00000358477.2_Missense_Mutation_p.I860K Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 944 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTCCTTTGGTATTATAGGAAC 0.453000 5 326 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35717254 35717254 + Nonsense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr9:35717254G>A ENST00000314888.9 - 19 2700 c.2347C>T c.(2347-2349)Cag>Tag p.Q783* TLN1_ENST00000540444.1_Nonsense_Mutation_p.Q783* NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 783 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TTCACATGCTGCAGCAGCTCA 0.582000 6 241 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397952 125397952 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:125397952G>A ENST00000536769.1 - 1 1942 c.366C>T c.(364-366)gcC>gcT p.A122A UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Silent_p.A122A|UBC_ENST00000538617.1_Silent_p.A122A P0CG48 UBC_HUMAN ubiquitin C 122 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(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GCTGCTTTCCGGCAAAGATCA 0.547000 19 465 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719281 140719281 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:140719281G>A ENST00000394576.2 + 1 743 c.743G>A c.(742-744)cGc>cAc p.R248H PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGAGTACCGCATAAGCATT 0.557000 4 223 0 0 1 0 0 ARPC2 10109 broad.mit.edu 37 2 219099073 219099073 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:219099073A>T ENST00000295685.10 + 4 483 c.e4-1 ARPC2_ENST00000315717.5_Splice_Site NM_005731.2 NP_005722.1 O15144 ARPC2_HUMAN actin related protein 2/3 complex, subunit 2, 34kDa cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 6 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) TTTATTTTCTAGTTATTAAAG 0.363000 6 196 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84530754 84530754 + RNA SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr9:84530754G>A ENST00000527857.1 + 0 776 NR_026851.1 TTTTCCCACCGCATCACATTC 0.527000 5 401 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2876174 2876174 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:2876174T>A ENST00000520002.1 - 53 8414 c.e53-2 CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000542608.1_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACGAGATAACTAGAAGGAAAA 0.378000 7 222 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48269420 48269420 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:48269420A>T ENST00000435803.1 + 7 656 c.e7-1 NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTTTGGTTCTAGTTCCTTAAT 0.398000 7 679 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123908827 123908827 + Silent SNP T T C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:123908827T>C ENST00000330487.5 - 1 890 c.882A>G c.(880-882)gtA>gtG p.V294V NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GAGCTTTCTTTACCTCCTTGT 0.438000 3 134 0 0 1 0 0 NAE1 8883 broad.mit.edu 37 16 66844677 66844677 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:66844677T>A ENST00000379463.2 - 15 1209 c.e15-2 NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site|NAE1_ENST00000394074.2_Splice_Site NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TCACGGTAACTAAAAAAGAAT 0.343000 11 234 0 0 1 0 0 AP1M1 8907 broad.mit.edu 37 19 16317206 16317206 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:16317206A>T ENST00000291439.3 + 3 703 c.254A>T c.(253-255)tAt>tTt p.Y85F AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y85F|AP1M1_ENST00000429941.2_Missense_Mutation_p.Y85F NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 85 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 TCTTTCCTCTATAAGGTGGTG 0.592000 8 678 0 0 1 0 0 SYNJ2BP 55333 broad.mit.edu 37 14 70855304 70855304 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:70855304G>A ENST00000256366.4 - 2 165 c.84C>T c.(82-84)gtC>gtT p.V28V RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_Intron NM_018373.2 NP_060843.2 synaptojanin 2 binding protein central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) CTGTCCCACCGACGATGTTGA 0.522000 16 39 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53077787 53077787 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:53077787T>A ENST00000276480.7 - 12 1888 c.e12-2 NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGGCAAGAACTAAGCACAAAA 0.428000 6 387 0 0 1 0 0 IGHV3-48 28424 broad.mit.edu 37 14 106994250 106994250 + RNA SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:106994250G>A ENST00000390624.2 - 0 96 GGAAAACCCAGCACAGCCCCA 0.473000 4 395 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107315388 107315388 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:107315388A>T ENST00000265715.3 + 6 824 c.e6-1 NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TCCTTATCGTAGTTGATATTT 0.398000 Pendred syndrome 14 587 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41596049 41596049 + Silent SNP A A G rs149580014 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:41596049A>G ENST00000330436.3 + 3 441 c.441A>G c.(439-441)gaA>gaG p.E147E NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 147 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GCATCGAGGAACGCATCCAGG 0.697000 3 141 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35879085 35879085 + Silent SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:35879085G>T ENST00000339208.6 - 22 4043 c.3903C>A c.(3901-3903)gtC>gtA p.V1301V SYNRG_ENST00000394378.2_Silent_p.V1246V|SYNRG_ENST00000345615.4_Silent_p.V1211V|SYNRG_ENST00000591288.1_Silent_p.V1095V|SYNRG_ENST00000585472.1_Silent_p.V1222V|SYNRG_ENST00000502449.2_Silent_p.V1166V|SYNRG_ENST00000346661.4_Silent_p.V1289V NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 1301 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GCTTTGGTTCGACACAGTTGA 0.517000 41 595 1.7489e-18 1.91725e-18 1 1 0 CEACAM5 1048 broad.mit.edu 37 19 42221515 42221515 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:42221515C>T ENST00000221992.6 + 5 1214 c.1100C>T c.(1099-1101)cCc>cTc p.P367L CEACAM5_ENST00000405816.1_Missense_Mutation_p.P367L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P366L NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 367 Ig-like 4. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCGGTCAGTCCCAGGCTGCAG 0.498000 5 610 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103372895 103372895 + Splice_Site SNP T T A rs35923887 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:103372895T>A ENST00000520539.1 - 4 796 c.e4-2 UBR5_ENST00000521922.1_Splice_Site|UBR5_ENST00000220959.4_Splice_Site NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTACCATCCTAAAAGCAAAG 0.323000 5 239 0 0 1 0 0 SCGB1D4 404552 broad.mit.edu 37 11 62065065 62065065 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:62065065C>T ENST00000358585.1 - 2 174 c.121G>A c.(121-123)Gcg>Acg p.A41T NM_206998.1 NP_996881.1 Q6XE38 SG1D4_HUMAN secretoglobin, family 1D, member 4 41 extracellular region binding lung(1)|prostate(1) 2 AGGTTTACCGCAGCGTCACTT 0.438000 5 425 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 44 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183495729 183495729 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:183495729A>T ENST00000367537.3 + 6 594 c.e6-1 SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TTTTTCTTTTAGTTATTACAA 0.333000 11 72 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158577035 158577035 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:158577035G>A ENST00000361284.1 + 1 807 c.807G>A c.(805-807)gaG>gaA p.E269E NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) ACTCTCTTGAGAGAGATCAGC 0.478000 5 573 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106109045 106109045 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:106109045A>T ENST00000357242.5 + 16 2618 c.2444A>T c.(2443-2445)tAt>tTt p.Y815F TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 815 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTATCTTGTTATTGGTGTTTG 0.343000 8 224 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107592482 107592482 + Missense_Mutation SNP G G C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:107592482G>C ENST00000393561.1 - 21 3522 c.3338C>G c.(3337-3339)gCt>gGt p.A1113G LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G P07942 LAMB1_HUMAN laminin, beta 1 1089 Laminin EGF-like 12. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAGGAATGAGCAGCATTGCA 0.567000 68 52 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70255667 70255667 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:70255667G>T ENST00000342771.4 + 19 3786 c.3465G>T c.(3463-3465)ttG>ttT p.L1155F AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1155 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGGAGCGCTTGCACATGCTCA 0.692000 11 47 4.36969e-10 4.66555e-10 1 1 0 FAM198B 51313 broad.mit.edu 37 4 159092036 159092036 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:159092036A>T ENST00000296530.8 - 2 1113 c.492T>A c.(490-492)ccT>ccA p.P164P FAM198B_ENST00000585682.1_Silent_p.P164P|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000592057.1_Silent_p.P164P|FAM198B_ENST00000393807.5_Silent_p.P164P|FAM198B_ENST00000589306.1_Intron NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 164 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 GAGCGTACCCAGGTGCTACAG 0.637000 OREG0016378 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 114 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172165637 172165637 + Silent SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:172165637G>T ENST00000241256.2 - 1 609 c.567C>A c.(565-567)ggC>ggA p.G189G GHSR_ENST00000427970.1_Silent_p.G189G NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 189 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AAGGGTCGGTGCCGTTCTCGT 0.642000 6 91 5.9392e-07 6.24377e-07 1 1 0 CARD6 84674 broad.mit.edu 37 5 40854274 40854274 + Missense_Mutation SNP C C G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:40854274C>G ENST00000254691.5 + 3 3039 c.2840C>G c.(2839-2841)tCc>tGc p.S947C CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 947 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TCCGATCAGTCCAACCCATCC 0.512000 9 478 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32833840 32833840 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:32833840T>A ENST00000397452.1 - 8 766 c.e8-2 BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site Q8NFQ6 BPIL2_HUMAN BPI fold containing family C extracellular region lipopolysaccharide binding|phospholipid binding TGGTTAAAACTAAATAACCAA 0.303000 4 103 0 0 1 0 0 SPP1 6696 broad.mit.edu 37 4 88903976 88903976 + Missense_Mutation SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:88903976T>A ENST00000237623.7 + 6 979 c.831T>A c.(829-831)agT>agA p.S277R SPP1_ENST00000360804.4_Missense_Mutation_p.S264R|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Missense_Mutation_p.S291R NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 291 SHEF -> GNSL (in Ref. 2). biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) ACCCCAAAAGTAAGGAAGAAG 0.373000 4 109 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954569 30954569 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:30954569G>A ENST00000376296.3 + 2 858 c.617G>A c.(616-618)gGg>gAg p.G206E MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 206 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ACCTCCAGTGGGGCCAGCACA 0.622000 4 210 0 0 1 0 0 SDHAF2 54949 broad.mit.edu 37 11 61205474 61205474 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:61205474A>T ENST00000301761.2 + 3 334 c.e3-1 SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site NM_017841.2 NP_060311.1 Q9NX18 SDHF2_HUMAN succinate dehydrogenase complex assembly factor 2 mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage mitochondrion protein binding large_intestine(3)|lung(4)|ovary(2) 9 TCTTGTTTTTAGTCTTTTTGC 0.403000 6 216 0 0 1 0 0 SFRP2 6423 broad.mit.edu 37 4 154702608 154702608 + Missense_Mutation SNP A A C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:154702608A>C ENST00000274063.4 - 3 1167 c.883T>G c.(883-885)Tgc>Ggc p.C295G NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 295 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) CGGGACTAGCACTGCAGCTTG 0.617000 31 71 0 0 1 0 0 CNOT6 57472 broad.mit.edu 37 5 179994847 179994847 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:179994847A>T ENST00000393356.1 + 11 1296 c.e11-1 CNOT6_ENST00000261951.4_Splice_Site Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TTTTTGTTTTAGATTTACTTT 0.403000 5 117 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32832520 32832520 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:32832520A>T ENST00000421745.2 + 72 14204 c.e72-1 NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TTTATTCTTTAGGTGTTGGTG 0.408000 11 456 0 0 1 0 0 AGTR1 185 broad.mit.edu 37 3 148459298 148459298 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:148459298C>T ENST00000542281.1 + 4 922 c.476C>T c.(475-477)gCc>gTc p.A159V AGTR1_ENST00000474935.1_Missense_Mutation_p.A159V|AGTR1_ENST00000402260.1_Missense_Mutation_p.A159V|AGTR1_ENST00000497524.1_Missense_Mutation_p.A159V|AGTR1_ENST00000404754.2_Missense_Mutation_p.A159V|AGTR1_ENST00000418473.2_Missense_Mutation_p.A159V|AGTR1_ENST00000461609.1_Missense_Mutation_p.A159V|AGTR1_ENST00000475347.1_Missense_Mutation_p.A159V|AGTR1_ENST00000349243.3_Missense_Mutation_p.A159V NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 159 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) GCAGGCTTGGCCAGTTTGCCA 0.458000 4 266 0 0 1 0 0 TXNDC15 79770 broad.mit.edu 37 5 134235291 134235291 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:134235291A>T ENST00000358387.4 + 5 1624 c.999A>T c.(997-999)ttA>ttT p.L333F TXNDC15_ENST00000546290.1_Missense_Mutation_p.L310F NM_024715.3 NP_078991.3 Q96J42 TXD15_HUMAN thioredoxin domain containing 15 333 cell redox homeostasis integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TATTCTTTTTAATTAGTTTTA 0.403000 4 64 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167750453 167750453 + Missense_Mutation SNP T T C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:167750453T>C ENST00000470487.1 - 9 1720 c.1031A>G c.(1030-1032)gAg>gGg p.E344G GOLIM4_ENST00000309027.4_Missense_Mutation_p.E316G NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 344 Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TTCTTCCTCCTCCAGGGCCTT 0.552000 4 342 0 0 1 0 0 CEP78 84131 broad.mit.edu 37 9 80856610 80856610 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr9:80856610A>T ENST00000424347.2 + 4 788 c.e4-1 CEP78_ENST00000415759.2_Splice_Site|CEP78_ENST00000376597.4_Splice_Site|CEP78_ENST00000376598.2_Splice_Site|CEP78_ENST00000277082.5_Splice_Site Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 TTTCCATTTTAGTTATTTGTC 0.338000 6 165 0 0 1 0 0 ZNF16 7564 broad.mit.edu 37 8 146156711 146156711 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:146156711G>A ENST00000276816.4 - 4 1648 c.1462C>T c.(1462-1464)Ccg>Tcg p.P488S ZNF16_ENST00000394909.2_Missense_Mutation_p.P488S NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CATCTGTACGGCTTCTCTCCC 0.547000 5 367 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223163965 223163965 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:223163965A>T ENST00000284476.6 + 4 703 c.e4-1 DISP1_ENST00000495684.1_Splice_Site NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TGTGTTTTGTAGTTATGCAGC 0.478000 5 185 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107148850 107148850 + Missense_Mutation SNP C C T rs138552159 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:107148850C>T ENST00000262843.6 + 5 1615 c.1067C>T c.(1066-1068)gCt>gTt p.A356V MID2_ENST00000443968.2_Missense_Mutation_p.A356V|RP6-191P20.4_ENST00000430140.1_RNA NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 356 COS. centrosome|microtubule ligase activity|zinc ion binding p.A336D(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 AAAAATATTGCTGAGAGGTCA 0.428000 6 916 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1718106 1718106 + Silent SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:1718106C>A ENST00000397412.3 + 18 3345 c.3246C>A c.(3244-3246)ggC>ggA p.G1082G CRAMP1L_ENST00000293925.5_Silent_p.G1082G|CRAMP1L_ENST00000262317.4_Silent_p.G460G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G1079G Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 1082 Ser-rich. nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CCCTGCCCGGCCCACCTGAGG 0.617000 8 145 0.307466 0.307466 1 1 0 MEGF10 84466 broad.mit.edu 37 5 126676271 126676271 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:126676271C>T ENST00000274473.6 + 5 535 c.268C>T c.(268-270)Cgc>Tgc p.R90C MEGF10_ENST00000508365.1_Missense_Mutation_p.R90C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R90C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R90C NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 90 EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TATGTATAGGCGCAAGTCTCA 0.418000 5 472 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106091410 106091410 + RNA SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:106091410C>T ENST00000390543.2 - 0 483 TGCACCTCCACGCCATCCACG 0.607000 8 1102 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93756124 93756124 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:93756124A>T ENST00000265990.6 + 24 3617 c.e24-1 NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TTTTGTTTTTAGTTGGTCCAG 0.358000 5 107 0 0 1 0 0 SENP6 26054 broad.mit.edu 37 6 76380267 76380267 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:76380267A>T ENST00000370014.3 + 11 1843 c.e11-1 SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) TTTCCTTTTTAGTTTGGCAAT 0.323000 7 118 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686235 100686235 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:100686235G>T ENST00000306151.4 + 3 11602 c.11538G>T c.(11536-11538)ttG>ttT p.L3846F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3846 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTTTGCTCACCTCTA 0.463000 31 100 1.36161e-19 1.5007e-19 1 1 0 TRNT1 51095 broad.mit.edu 37 3 3170805 3170805 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:3170805A>T ENST00000251607.6 + 2 183 c.81A>T c.(79-81)ctA>ctT p.L27L TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 27 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) AGCAGTATCTATTCACAATGA 0.488000 56 105 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553761 19553761 + Missense_Mutation SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:19553761C>A ENST00000409832.3 + 1 397 c.345C>A c.(343-345)agC>agA p.S115R NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 115 p.S115R(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GCGGCAAGAGCAAAGTGGGCC 0.597000 21 330 2.24395e-52 2.51372e-52 1 1 0 SEPT2 4735 broad.mit.edu 37 2 242276907 242276907 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:242276907A>T ENST00000391973.2 + 6 980 c.452A>T c.(451-453)tAc>tTc p.Y151F SEPT2_ENST00000407971.1_Missense_Mutation_p.Y111F|SEPT2_ENST00000391971.2_Missense_Mutation_p.Y151F|SEPT2_ENST00000360051.3_Missense_Mutation_p.Y151F|SEPT2_ENST00000401990.1_Missense_Mutation_p.Y161F|SEPT2_ENST00000402092.2_Missense_Mutation_p.Y151F NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 151 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) TGTTGCTTTTACTTTATTTCA 0.373000 6 404 0 0 1 0 0 TMEM209 84928 broad.mit.edu 37 7 129841933 129841933 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:129841933T>A ENST00000397622.2 - 5 454 c.e5-2 TMEM209_ENST00000473456.1_Splice_Site|TMEM209_ENST00000462753.1_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Splice_Site NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) TCTGTACAACTAGAAGGAAAA 0.388000 7 178 0 0 1 0 0 MIR4485 100616263 broad.mit.edu 37 MT 2828 2828 + RNA SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrM:2828G>A ENST00000387347.2 + 0 1158 NR_039705.1 GGCGACCTCGGAGCAGAACCC 0.428000 5 30 0 0 1 0 0 EBPL 84650 broad.mit.edu 37 13 50235160 50235160 + Missense_Mutation SNP G G C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr13:50235160G>C ENST00000242827.6 - 4 615 c.565C>G c.(565-567)Cta>Gta p.L189V EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_3'UTR NM_032565.3 NP_115954.1 Q9BY08 EBPL_HUMAN emopamil binding protein-like 189 sterol metabolic process endoplasmic reticulum membrane|integral to membrane cholestenol delta-isomerase activity p.L189V(9) endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.06e-09) TTGAGTTCTAGCCATGACTGC 0.418000 6 61 0 0 1 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14423 14423 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrM:14423G>A ENST00000361681.2 - 1 250 c.251C>T c.(250-252)tCa>tTa p.S84L mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 CCTCAACCCCTGACCCCCATG 0.453000 5 29 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93757421 93757421 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:93757421A>T ENST00000265990.6 + 25 3881 c.3573A>T c.(3571-3573)gtA>gtT p.V1191V BTAF1_ENST00000544642.1_Silent_p.V19V NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1191 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TTGTTCCTGTATTAGGAAGAA 0.388000 6 147 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154562732 154562732 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:154562732G>A ENST00000368474.4 - 7 2623 c.2424C>T c.(2422-2424)acC>acT p.T808T ADAR_ENST00000368471.3_Silent_p.T513T|ADAR_ENST00000292205.5_Silent_p.T851T NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 808 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CTGTCACTGGGGTTACCTCTG 0.527000 5 109 0 0 1 0 0 CYLD 1540 broad.mit.edu 37 16 50827498 50827498 + Nonsense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:50827498G>T ENST00000540145.1 + 17 2807 c.2392G>T c.(2392-2394)Gag>Tag p.E798* CYLD_ENST00000398568.2_Nonsense_Mutation_p.E795*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.E613*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.E798*|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Nonsense_Mutation_p.E798*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.E795* Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 798 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) TGCAATGTATGAGTGTAGAGA 0.438000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 16 282 2.35188e-11 2.53756e-11 1 1 0 AKAP9 10142 broad.mit.edu 37 7 91667731 91667731 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:91667731A>T ENST00000359028.2 + 18 4599 c.e18-1 AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 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) TTATTTCTTTAGGTTATTGTG 0.299000 T BRAF papillary thyroid 4 78 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42163859 42163859 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:42163859A>T ENST00000520810.1 + 7 663 c.e7-1 IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 transcription, DNA-dependent|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) CTTTTGTTTTAGTTAATACAC 0.438000 4 117 0 0 1 0 0 CMC4 100272147 broad.mit.edu 37 X 154292310 154292310 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:154292310T>A ENST00000369484.3 - 2 669 c.e2-2 MTCP1_ENST00000369476.3_3'UTR|CMC4_ENST00000369479.1_Splice_Site NM_001018024.2 NP_001018024.1 C-x(9)-C motif containing 4 TCCAGAAAACTAAAACAAGAA 0.338000 4 57 0 0 1 0 0 FAM120B 84498 broad.mit.edu 37 6 170627767 170627767 + Missense_Mutation SNP A A G rs6900202 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:170627767A>G ENST00000476287.1 + 2 1397 c.1289A>G c.(1288-1290)gAc>gGc p.D430G FAM120B_ENST00000537664.1_Missense_Mutation_p.D453G|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.D442G NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 430 D -> G (in dbSNP:rs6900202). cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) ATGTATACAGACTCTGAACCC 0.512000 5 512 0 0 1 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36935784 36935784 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:36935784T>A ENST00000269554.3 - 5 988 c.e5-2 PIP4K2B_ENST00000311500.6_Splice_Site NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 CACTATAAACTAGAATGGAAA 0.532000 5 242 0 0 1 0 0 DPY19L4 286148 broad.mit.edu 37 8 95751944 95751944 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:95751944A>T ENST00000414645.2 + 6 636 c.537A>T c.(535-537)ttA>ttT p.L179F NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 179 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) TTACTGCTTTATTTGTTACAA 0.348000 5 257 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37620095 37620095 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:37620095A>T ENST00000252011.3 + 6 483 c.e6-1 DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) TTTATTTTTTAGTTTCTTACT 0.313000 4 142 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139175195 139175195 + Missense_Mutation SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:139175195C>A ENST00000423192.1 + 9 1263 c.1102C>A c.(1102-1104)Cct>Act p.P368T ECT2L_ENST00000541398.1_Missense_Mutation_p.P299T|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.P368T Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 368 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TTTACTGAGGCCTGAAGTGAG 0.393000 """N, Splice, Mis""" ETP ALL 4 430 0.014758 0.0149034 1 1 0 DMXL1 1657 broad.mit.edu 37 5 118532064 118532064 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:118532064A>T ENST00000311085.8 + 31 7537 c.e31-1 DMXL1_ENST00000539542.1_Splice_Site NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CTTTATTTTTAGTTGGTCCTT 0.388000 8 401 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24854824 24854824 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:24854824T>A ENST00000313367.2 - 19 2479 c.e19-2 OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TCCCCAAAACTAAAAAGAAGG 0.378000 11 211 0 0 1 0 0 MTHFR 4524 broad.mit.edu 37 1 11861228 11861228 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:11861228C>T ENST00000376592.1 - 2 593 c.465G>A c.(463-465)gcG>gcA p.A155A MTHFR_ENST00000376583.3_Silent_p.A196A|MTHFR_ENST00000376585.1_Silent_p.A196A|MTHFR_ENST00000376590.3_Silent_p.A155A P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 155 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) CTCCCCGCAGCGCCATGATGT 0.587000 3 107 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744726 62744726 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:62744726C>T ENST00000377871.3 - 9 1761 c.1495G>A c.(1495-1497)Gct>Act p.A499T SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 499 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ACAGTGACAGCGCTGGCGGCC 0.637000 45 69 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128723865 128723865 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:128723865A>T ENST00000371113.4 + 23 2678 c.2513A>T c.(2512-2514)tAc>tTc p.Y838F OCRL_ENST00000357121.5_Missense_Mutation_p.Y830F NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 838 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 GTTTTCCGTTACTTGATGGCA 0.428000 6 371 0 0 1 0 0 ZMAT2 153527 broad.mit.edu 37 5 140083501 140083501 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:140083501A>T ENST00000274712.3 + 4 363 c.e4-1 NM_144723.1 NP_653324.1 Q96NC0 ZMAT2_HUMAN zinc finger, matrin-type 2 nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCCTGTTAGATATTACTG 0.368000 8 680 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671742 45671742 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:45671742G>T ENST00000308064.2 - 4 1402 c.732C>A c.(730-732)agC>agA p.S244R NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 244 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGAAGGTCTCGCTGCGCGAAG 0.657000 5 175 0.00198382 0.00203341 1 1 0 DMXL1 1657 broad.mit.edu 37 5 118525401 118525401 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:118525401A>T ENST00000311085.8 + 29 7215 c.e29-1 DMXL1_ENST00000539542.1_Splice_Site NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TCTTTTTGTTAGTTTCTTCAC 0.368000 11 152 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628301 29628301 + Missense_Mutation SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:29628301T>A ENST00000278882.3 + 6 683 c.303T>A c.(301-303)agT>agA p.S101R FRG1B_ENST00000439954.2_Missense_Mutation_p.S106R|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101R endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAGCAAAAAGTAAAACAGCAG 0.353000 6 165 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48511107 48511107 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:48511107A>T ENST00000446524.1 + 1 839 c.763A>T c.(763-765)Atg>Ttg p.M255L NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TTGTATTTTTATGTATGCTAG 0.428000 8 1127 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106110141 106110141 + RNA SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:106110141G>A ENST00000390545.2 - 0 476 CCTCCACGCCGTCCACGTACC 0.617000 504 789 0 0 1 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623380 21623380 + Missense_Mutation SNP A A G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:21623380A>G ENST00000304418.3 - 1 842 c.805T>C c.(805-807)Tac>Cac p.Y269H NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) ATTAAGAAGTAGGAGATCAAG 0.488000 4 75 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071105 9071105 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:9071105C>T ENST00000397910.4 - 3 16544 c.16341G>A c.(16339-16341)tcG>tcA p.S5447S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5449 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 GTGTGGCTTTCGATGTCTCTG 0.493000 8 1008 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57572306 57572306 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:57572306G>A ENST00000243077.3 + 27 4992 c.4526G>A c.(4525-4527)gGc>gAc p.G1509D NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1509 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AAGTGGACCGGCCACAATGTC 0.622000 4 264 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271141 59271141 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:59271141A>T ENST00000313253.1 + 1 93 c.93A>T c.(91-93)ttA>ttT p.L31F NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 TTCTTTTTTTATGTCTTGTGT 0.448000 5 261 0 0 1 0 0 CTXN3 613212 broad.mit.edu 37 5 126993328 126993328 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:126993328A>T ENST00000379445.3 + 3 666 c.115A>T c.(115-117)Att>Ttt p.I39F CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F NM_001048252.2 NP_001041717.1 Q4LDR2 CTXN3_HUMAN cortexin 3 39 integral to membrane endometrium(1)|large_intestine(2)|lung(1) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038) TCTGTTGTTTATTTTCTTGGG 0.483000 7 260 0 0 1 0 0 ZCRB1 85437 broad.mit.edu 37 12 42711251 42711251 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:42711251T>A ENST00000266529.3 - 5 409 c.e5-2 PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Splice_Site NM_033114.3 NP_149105.3 Q8TBF4 ZCRB1_HUMAN zinc finger CCHC-type and RNA binding motif 1 mRNA processing nucleoplasm|U12-type spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2) 8 all_cancers(12;0.000348)|Breast(8;0.221) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0689) ACCAAATAACTAAACAAGAGA 0.294000 6 77 0 0 1 0 0 COX10 1352 broad.mit.edu 37 17 14005509 14005509 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:14005509A>T ENST00000261643.3 + 4 651 c.574A>T c.(574-576)Act>Tct p.T192S COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Intron NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 192 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) TTTCCTGCTTACTTCTGTTGG 0.473000 7 327 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49019264 49019264 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:49019264A>T ENST00000226432.4 + 9 1369 c.e9-1 CWH43_ENST00000513409.1_Splice_Site NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TTTTCTGTTTAGTTCTGTGGC 0.378000 3 46 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158059959 158059959 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:158059959A>T ENST00000264428.4 + 7 880 c.e7-1 GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000509282.1_Splice_Site NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TTTTGTTTATAGTTGGTTACA 0.259000 3 21 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92532309 92532309 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:92532309C>T ENST00000298047.6 + 9 6147 c.6130C>T c.(6130-6132)Cgt>Tgt p.R2044C FAT3_ENST00000525166.1_Missense_Mutation_p.R1894C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2044C Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2044 Cadherin 18. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCCCTTTGACCGTGAAGAACA 0.468000 TCGA Ovarian(4;0.039) 3 95 0 0 1 0 0 PSMD2 5708 broad.mit.edu 37 3 184020156 184020156 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:184020156A>T ENST00000310118.4 + 6 1262 c.e6-1 EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site|PSMD2_ENST00000435761.1_Splice_Site NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 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) TTACTTTTGTAGTTGTGTGAA 0.413000 4 93 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089442 9089442 + Silent SNP A A G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:9089442A>G ENST00000397910.4 - 1 2576 c.2373T>C c.(2371-2373)ccT>ccC p.P791P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 791 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 GATGAGTCAGAGGGGAAGTTG 0.502000 34 1611 0 0 1 0 0 WDR75 84128 broad.mit.edu 37 2 190334800 190334800 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:190334800A>T ENST00000314761.4 + 17 1879 c.e17-1 NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TTTTCCCTCTAGTGTTTGTAT 0.428000 6 340 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771625 143771625 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:143771625A>T ENST00000408898.2 + 1 351 c.313A>T c.(313-315)Agt>Tgt p.S105C NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TCTGTTTTTGAGTTTTGCACA 0.527000 8 426 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883378 228883378 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:228883378C>T ENST00000392056.3 - 7 2238 c.2192G>A c.(2191-2193)gGt>gAt p.G731D SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 731 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGGACATTCACCAAGCCGTAC 0.443000 6 255 0 0 1 0 0 ELL2 22936 broad.mit.edu 37 5 95242265 95242265 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:95242265G>T ENST00000237853.4 - 5 1052 c.703C>A c.(703-705)Caa>Aaa p.Q235K ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 235 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TTGTCTTTTTGATTGACACCA 0.468000 5 185 4.096e-09 4.35067e-09 1 1 0 TAS2R3 50831 broad.mit.edu 37 7 141464711 141464711 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:141464711A>T ENST00000247879.2 + 1 815 c.753A>T c.(751-753)ttA>ttT p.L251F SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 251 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) ttgctttcttAATTGCATCAT 0.408000 6 406 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582703 82582703 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:82582703A>T ENST00000423517.2 - 5 7903 c.7566T>A c.(7564-7566)acT>acA p.T2522T PCLO_ENST00000333891.8_Silent_p.T2522T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2453 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 GTTTTTGTGTAGTTGTTGGAA 0.423000 6 216 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102045089 102045089 + Missense_Mutation SNP T T C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:102045089T>C ENST00000549145.1 + 15 1508 c.1408T>C c.(1408-1410)Tct>Cct p.S470P MYBPC1_ENST00000536007.1_Missense_Mutation_p.S438P|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S443P|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S445P|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S431P|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S444P|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S358P|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000550501.1_Intron Q00872 MYPC1_HUMAN myosin binding protein C, slow type 457 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GTGTGAAATCTCTGAAAACAT 0.428000 10 395 0 0 1 0 0 WNT8A 7478 broad.mit.edu 37 5 137426757 137426757 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:137426757G>T ENST00000506684.1 + 5 1341 c.1105G>T c.(1105-1107)Gcc>Tcc p.A369S WNT8A_ENST00000398754.1_Missense_Mutation_p.A351S Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 351 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TAAGGGCAGTGCCTGATAATA 0.502000 12 399 0.00136819 0.00140945 1 1 0 STON2 85439 broad.mit.edu 37 14 81743834 81743834 + Silent SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:81743834C>A ENST00000555447.1 - 6 2233 c.1821G>T c.(1819-1821)ggG>ggT p.G607G STON2_ENST00000267540.2_Silent_p.G607G NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 607 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACTCTGCGAGCCCAGACAGGA 0.507000 16 157 5.3912e-06 5.63876e-06 1 1 0 ATP1A2 477 broad.mit.edu 37 1 160091024 160091024 + Missense_Mutation SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:160091024C>A ENST00000361216.3 + 3 249 c.160C>A c.(160-162)Caa>Aaa p.Q54K ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q54K NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 54 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCGCAAATACCAAGTGGACCT 0.517000 9 515 3.86212e-05 3.99866e-05 1 1 0 WFDC8 90199 broad.mit.edu 37 20 44181861 44181861 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:44181861G>A ENST00000357199.4 - 5 578 c.500C>T c.(499-501)cCt>cTt p.P167L WFDC8_ENST00000289953.2_Missense_Mutation_p.P167L NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 167 WAP 2. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) GTGACATGAAGGTGGACACTC 0.488000 5 614 0 0 1 0 0 FBXL3 26224 broad.mit.edu 37 13 77581635 77581635 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr13:77581635G>A ENST00000355619.5 - 5 1256 c.932C>T c.(931-933)aCc>aTc p.T311I FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 311 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) GTACAGATGGGTGGCAGGTAT 0.408000 5 99 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54901678 54901678 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:54901678G>A ENST00000293373.6 + 4 427 c.348G>A c.(346-348)caG>caA p.Q116Q NCKAP1L_ENST00000545638.2_Silent_p.Q66Q NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 116 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ATGCCTGCCAGTGCCATTTTG 0.418000 4 641 0 0 1 0 0 MRRF 92399 broad.mit.edu 37 9 125033141 125033141 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr9:125033141A>T ENST00000344641.3 + 2 283 c.e2-1 MRRF_ENST00000373730.3_Splice_Site|MRRF_ENST00000373723.4_Splice_Site|MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000373727.1_Splice_Site|MRRF_ENST00000373728.1_Splice_Site|MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000373729.1_Intron NM_138777.3 NP_620132.1 Q96E11 RRFM_HUMAN mitochondrial ribosome recycling factor ribosome disassembly|translation mitochondrion sequence-specific DNA binding transcription factor activity breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 12 TATTCTTTTTAGTGGATGTTT 0.393000 5 280 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52159702 52159702 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:52159702G>T ENST00000354534.5 + 16 2970 c.2792G>T c.(2791-2793)cGa>cTa p.R931L SCN8A_ENST00000545061.1_Missense_Mutation_p.R931L|SCN8A_ENST00000550891.1_Missense_Mutation_p.R931L NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 931 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity p.R931L(2)|p.R931Q(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ATTGTCTTTCGAGTGTTGTGC 0.498000 6 1231 0.00909568 0.00923076 1 1 0 AGO4 192670 broad.mit.edu 37 1 36297167 36297167 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:36297167C>T ENST00000373210.3 + 8 1233 c.988C>T c.(988-990)Cca>Tca p.P330S NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 TACATACTTGCCACTCGAGGT 0.348000 3 80 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088696 86088696 + Silent SNP C C A rs148371022 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:86088696C>A ENST00000330753.4 + 2 1605 c.838C>A c.(838-840)Cgg>Agg p.R280R FLRT2_ENST00000554746.1_Silent_p.R280R NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 280 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TAAGCTGGAACGGCTGGATAT 0.483000 205 119 1.07919e-67 1.21557e-67 1 1 0 HNRNPL 3191 broad.mit.edu 37 19 39330801 39330801 + Missense_Mutation SNP C C G rs115791874 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:39330801C>G ENST00000221419.5 - 8 1534 c.1168G>C c.(1168-1170)Gat>Cat p.D390H HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H|AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 390 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding p.D390H(1)|p.D257H(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) TTAGATTGATCCAAGCCATAG 0.597000 3 104 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065088 9065088 + Missense_Mutation SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:9065088C>A ENST00000397910.4 - 3 22561 c.22358G>T c.(22357-22359)aGc>aTc p.S7453I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7455 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 AACTGAGGTGCTGCTCAAACT 0.478000 5 716 0.184627 0.185532 1 1 0 FAM122C 159091 broad.mit.edu 37 X 133948805 133948805 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:133948805A>T ENST00000414371.2 + 4 396 c.223A>T c.(223-225)Aat>Tat p.N75Y FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR NM_001170780.1|NM_001170784.1 NP_001164251.1|NP_001164255.1 Q6P4D5 F222C_HUMAN family with sequence similarity 122C 39 endometrium(2)|kidney(1)|lung(2) 5 Acute lymphoblastic leukemia(192;0.000127) TTTTAGTTTTAATTCACAGGT 0.343000 9 182 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18958551 18958551 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:18958551A>T ENST00000262803.5 + 3 643 c.e3-1 UPF1_ENST00000599848.1_Splice_Site NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 TTGATTTTTTAGTTACTGTGG 0.408000 OREG0025373 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 104 0 0 1 0 0 DHRS7B 25979 broad.mit.edu 37 17 21094259 21094259 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:21094259A>T ENST00000395511.3 + 7 1092 c.e7-1 DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron NM_015510.4 NP_056325.2 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B integral to membrane|peroxisomal membrane binding|oxidoreductase activity p.?(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2) 7 TATTTATTTTAGTTATGGACA 0.517000 4 89 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183495733 183495733 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:183495733A>T ENST00000367537.3 + 6 597 c.402A>T c.(400-402)ttA>ttT p.L134F SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 105 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TCTTTTAGTTATTACAAGAAC 0.348000 4 97 0 0 1 0 0 ZNF565 147929 broad.mit.edu 37 19 36673739 36673739 + Nonsense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:36673739G>A ENST00000355114.5 - 5 1975 c.1249C>T c.(1249-1251)Cag>Tag p.Q417* ZNF565_ENST00000304116.5_Nonsense_Mutation_p.Q377*|ZNF565_ENST00000392173.2_Nonsense_Mutation_p.Q377* Q8N9K5 ZN565_HUMAN zinc finger protein 565 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(4)|ovary(1)|skin(2) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) CGTGTGAGCTGTGCGTGCTGT 0.468000 10 353 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6731556 6731556 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:6731556G>T ENST00000405858.1 - 5 1558 c.1017C>A c.(1015-1017)caC>caA p.H339Q ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|AC073343.13_ENST00000366167.2_RNA NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 339 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GCTGAATGAGGTGTAACTTCT 0.443000 41 133 6.07928e-31 6.7365e-31 1 1 0 ALDH1L2 160428 broad.mit.edu 37 12 105420396 105420396 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:105420396A>T ENST00000258494.9 - 22 2783 c.2643T>A c.(2641-2643)atT>atA p.I881I C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 881 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 TGTATGTGTTAATAAAAACAG 0.403000 6 289 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94043228 94043228 + Nonsense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:94043228A>T ENST00000515393.1 - 23 2972 c.2973T>A c.(2971-2973)taT>taA p.Y991* MCTP1_ENST00000312216.8_Nonsense_Mutation_p.Y770*|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.Y684*|MCTP1_ENST00000505078.1_Nonsense_Mutation_p.Y507*|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_Intron NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 991 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TCTTTCTTTTATATGGGCTAT 0.453000 8 236 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80764348 80764348 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:80764348A>T ENST00000458043.2 + 55 6594 c.e55-1 OTOGL_ENST00000547103.1_Splice_Site|OTOGL_ENST00000546620.1_Splice_Site NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTGATTTTTAGGTAGGGAGT 0.308000 5 117 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33467663 33467663 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:33467663A>T ENST00000265112.3 + 19 2334 c.e19-1 TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000414361.2_Splice_Site NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) TGTTTGTTTTAGTTGTTGGTG 0.408000 4 87 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57955884 57955884 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:57955884C>T ENST00000334181.4 + 3 1618 c.1368C>T c.(1366-1368)caC>caT p.H456H AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H369H(1)|p.H456H(1) breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TAGTTCAGCACCAGAAAATCC 0.423000 5 525 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397946 125397946 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:125397946C>T ENST00000536769.1 - 1 1948 c.372G>A c.(370-372)aaG>aaA p.K124K UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Silent_p.K124K|UBC_ENST00000538617.1_Silent_p.K124K P0CG48 UBC_HUMAN ubiquitin C 124 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 p.K124K(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTTCCAGCTGCTTTCCGGCAA 0.542000 18 455 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6607201 6607201 + Silent SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:6607201C>A ENST00000433363.2 - 4 776 c.543G>T c.(541-543)ctG>ctT p.L181L SLC13A5_ENST00000293800.6_Silent_p.L164L|SLC13A5_ENST00000381074.4_Silent_p.L138L|SLC13A5_ENST00000573648.1_Silent_p.L181L NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 181 integral to membrane citrate transmembrane transporter activity p.L181L(3) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 GCTCACCTGGCAGCTCCTTGG 0.642000 6 50 3.86212e-05 3.99866e-05 1 1 0 OR4F4 26682 broad.mit.edu 37 15 102462642 102462642 + Silent SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:102462642T>A ENST00000326183.3 - 1 656 c.621A>T c.(619-621)ctA>ctT p.L207L NM_001004195.2 NP_001004195.2 Q96R69 OR4F4_HUMAN olfactory receptor, family 4, subfamily F, member 4 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) ATGAGATGATTAGAAGAACAA 0.413000 7 1354 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89720860 89720860 + Missense_Mutation SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:89720860T>A ENST00000371953.3 + 8 2368 c.1011T>A c.(1009-1011)ttT>ttA p.F337L PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 337 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ACCGATACTTTTCTCCAAATT 0.338000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 12 130 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138433380 138433380 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:138433380A>T ENST00000477593.1 - 8 1305 c.1232T>A c.(1231-1233)gTa>gAa p.V411E PIK3CB_ENST00000289153.2_Missense_Mutation_p.V411E P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 411 C2 PI3K-type. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CTTCGTTTTTACTTTATCCAA 0.328000 4 41 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102849529 102849529 + Missense_Mutation SNP G G C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:102849529G>C ENST00000264257.2 + 10 1368 c.1242G>C c.(1240-1242)gaG>gaC p.E414D IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D|IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000481806.1_3'UTR NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 414 TIR. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 AGGTGTTGGAGAGACAATGTG 0.448000 85 141 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95535270 95535270 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:95535270G>T ENST00000343958.4 - 6 2954 c.2731C>A c.(2731-2733)Cca>Aca p.P911T FGD6_ENST00000549499.1_Missense_Mutation_p.P911T|FGD6_ENST00000546711.1_Missense_Mutation_p.P911T NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 911 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TCAATCACTGGTTTCCCAAGT 0.443000 77 99 1.53276e-45 1.70769e-45 1 1 0 TRIM33 51592 broad.mit.edu 37 1 114968131 114968131 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:114968131A>T ENST00000358465.2 - 9 1718 c.1635T>A c.(1633-1635)acT>acA p.T545T TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 545 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) 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) TTGTTGTTGTAGTTGGTACAG 0.428000 T RET papillary thyroid 6 388 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72420855 72420855 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:72420855A>T ENST00000340595.3 + 18 2758 c.e18-1 SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TTTTCCTTCTAGTTTATACCC 0.323000 8 427 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13910666 13910666 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:13910666G>T ENST00000254323.2 + 2 475 c.286G>T c.(286-288)Gcc>Tcc p.A96S NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 96 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CGAGCACGATGCCCGGGTGCC 0.632000 9 234 1.04858e-14 1.13734e-14 1 1 0 ENTPD5 957 broad.mit.edu 37 14 74444079 74444079 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:74444079T>A ENST00000334696.6 - 7 761 c.e7-2 ENTPD5_ENST00000557325.1_Splice_Site NM_001249.2 NP_001240.1 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) CTCCTTTACCTAGAGAAAAAG 0.388000 4 77 0 0 1 0 0 TTC30A 92104 broad.mit.edu 37 2 178482598 178482598 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:178482598G>A ENST00000355689.4 - 1 1096 c.832C>T c.(832-834)Cca>Tca p.P278S AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 278 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) GCCCTGGGTGGCATGTCGGTG 0.507000 5 398 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 48 0 0 1 0 0 ACSL3 2181 broad.mit.edu 37 2 223782769 223782769 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:223782769A>T ENST00000357430.3 + 6 1093 c.562A>T c.(562-564)Aca>Tca p.T188S ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 188 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) TTTAGTTGTTACATTATATGC 0.348000 T ETV1 prostate 6 151 0 0 1 0 0 CDC42EP3 10602 broad.mit.edu 37 2 37873692 37873692 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:37873692A>T ENST00000295324.3 - 2 1039 c.39T>A c.(37-39)aaT>aaA p.N13K AC006369.2_ENST00000419425.1_RNA NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3 NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2 Q9UKI2 BORG2_HUMAN CDC42 effector protein (Rho GTPase binding) 3 13 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 11 all_hematologic(82;0.172) CTTTCTTGTTATTGGCTGCTT 0.448000 4 215 0 0 1 0 0 EVI2B 2124 broad.mit.edu 37 17 29632058 29632058 + Missense_Mutation SNP A A T rs142498190 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:29632058A>T ENST00000330927.4 - 2 724 c.570T>A c.(568-570)agT>agA p.S190R EVI2B_ENST00000577894.1_Missense_Mutation_p.S190R|EVI2B_ENST00000544462.1_Missense_Mutation_p.S205R|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 190 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TTTGTTTGTTACTGGTAGTAT 0.338000 5 271 0 0 1 0 0 STT3B 201595 broad.mit.edu 37 3 31621496 31621496 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:31621496A>T ENST00000295770.2 + 3 828 c.619A>T c.(619-621)Att>Ttt p.I207F STT3B_ENST00000453168.1_3'UTR NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 207 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 TTTTATTGCTATTGTACCAGG 0.398000 6 493 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248262935 248262935 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:248262935C>T ENST00000366478.2 + 3 595 c.258C>T c.(256-258)tcC>tcT p.S86S OR2L13_ENST00000358120.2_Silent_p.S86S NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) ACTTCCTGTCCGGCCAGAAAG 0.542000 4 627 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38655278 38655278 + Missense_Mutation SNP G G C rs45620037 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:38655278G>C ENST00000443581.1 - 6 852 c.659C>G c.(658-660)aCc>aGc p.T220S SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.T220S|SCN5A_ENST00000449557.2_Missense_Mutation_p.T220S|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.T220S NM_000335.4|NM_198056.2 NP_000326.2|NP_932173.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 220 T -> I (in SSS1; dbSNP:rs45620037). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GACTCGGAAGGTGCGTAAGGC 0.478000 3 24 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62739504 62739504 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:62739504G>A ENST00000371153.4 - 3 1650 c.1272C>T c.(1270-1272)acC>acT p.T424T KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 424 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 ACGACTCCCTGGTCAAGAGTC 0.557000 4 462 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51947198 51947198 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:51947198G>A ENST00000371117.3 - 4 548 c.273C>T c.(271-273)tgC>tgT p.C91C PKHD1_ENST00000340994.4_Silent_p.C91C NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 91 IPT/TIG 1; atypical. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.C91C(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACCTGGTCCGGCATGTCACCA 0.478000 5 655 0 0 1 0 0 WIF1 11197 broad.mit.edu 37 12 65462686 65462686 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:65462686T>A ENST00000286574.4 - 4 772 c.e4-2 NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CTTGAACAACTAAAAGAAAAA 0.373000 T HMGA2 pleomorphic salivary gland adenoma 6 108 0 0 1 0 0 GSK3B 2932 broad.mit.edu 37 3 119624701 119624701 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:119624701T>A ENST00000264235.8 - 7 1698 c.e7-2 GSK3B_ENST00000316626.5_Splice_Site NM_001146156.1|NM_002093.3 NP_001139628.1|NP_002084.2 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) ACCATACATCTAAAGAGAAAA 0.373000 6 250 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47777146 47777146 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr18:47777146A>T ENST00000398545.4 - 5 1095 c.978T>A c.(976-978)gaT>gaA p.D326E NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 326 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) GTTTCTTTTTATCTGCCTCTT 0.423000 14 787 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57955885 57955885 + Missense_Mutation SNP C C G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:57955885C>G ENST00000334181.4 + 3 1619 c.1369C>G c.(1369-1371)Cag>Gag p.Q457E AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q457E(1)|p.Q370E(1) breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) AGTTCAGCACCAGAAAATCCA 0.423000 5 527 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434473 179434473 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:179434473A>T ENST00000589042.1 - 326 76610 c.76386T>A c.(76384-76386)aaT>aaA p.N25462K TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N16522K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N16589K|TTN_ENST00000460472.2_Missense_Mutation_p.N16397K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N22894K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N23821K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23821 Fibronectin type-III 85. 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) TGTTTGTTTTATTAATTCCTG 0.383000 4 102 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177632806 177632806 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:177632806T>A ENST00000280193.2 - 4 968 c.e4-2 VEGFC_ENST00000507638.1_Splice_Site NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TTCAAATAACTACAAAGAAGG 0.363000 8 227 0 0 1 0 0 NKTR 4820 broad.mit.edu 37 3 42680994 42680994 + Silent SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:42680994T>A ENST00000232978.8 + 13 3986 c.3798T>A c.(3796-3798)atT>atA p.I1266I RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1266 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) GAATAGAAATTAAAAGCAAAA 0.443000 6 143 0 0 1 0 0 IL22RA2 116379 broad.mit.edu 37 6 137468946 137468946 + Nonsense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:137468946A>T ENST00000296980.2 - 6 855 c.555T>A c.(553-555)taT>taA p.Y185* IL22RA2_ENST00000349184.4_Nonsense_Mutation_p.Y153*|IL22RA2_ENST00000339602.3_Intron NM_052962.2 NP_443194.1 Q969J5 I22R2_HUMAN interleukin 22 receptor, alpha 2 185 Fibronectin type-III 3. regulation of tyrosine phosphorylation of Stat3 protein extracellular space interleukin-22 receptor activity endometrium(1)|large_intestine(1)|lung(3) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407) TTTGGTATCTATATGGTAAAT 0.303000 4 241 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121207884 121207884 + Nonsense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:121207884A>T ENST00000264233.5 - 16 4022 c.3894T>A c.(3892-3894)taT>taA p.Y1298* NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1298 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TGTTTGTTGTATAAGTACCTG 0.333000 DNA polymerases (catalytic subunits) 4 59 0 0 1 0 0 TMCO5A 145942 broad.mit.edu 37 15 38233348 38233348 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:38233348A>T ENST00000558158.1 + 7 541 c.e7-1 TMCO5A_ENST00000540944.1_Splice_Site|TMCO5A_ENST00000559502.1_Splice_Site|TMCO5A_ENST00000319669.4_Splice_Site Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 TGCTTTCTTTAGGTTAAGTTA 0.488000 6 280 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54963015 54963015 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:54963015C>T ENST00000243052.3 + 4 711 c.275C>T c.(274-276)gCc>gTc p.A92V PDE1B_ENST00000550620.1_Missense_Mutation_p.A72V|PDE1B_ENST00000538346.1_Missense_Mutation_p.A51V|PDE1B_ENST00000394277.3_Intron NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 92 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 CGGTCAGATGCCGTGCCTTCG 0.632000 4 529 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241534490 241534490 + Silent SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:241534490C>A ENST00000391984.2 + 7 1243 c.1047C>A c.(1045-1047)ggC>ggA p.G349G CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000354082.4_Silent_p.G349G NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 349 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) GGGTCAAGGGCCAGTCAGCAG 0.632000 15 31 8.24728e-16 8.99305e-16 1 1 0 NETO2 81831 broad.mit.edu 37 16 47165938 47165938 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:47165938T>A ENST00000562435.1 - 2 419 c.e2-2 NETO2_ENST00000303155.5_Splice_Site NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TTAACAACACTAGAGAAATAA 0.313000 HNSCC(25;0.065) 8 373 0 0 1 0 0 C16orf72 29035 broad.mit.edu 37 16 9210552 9210552 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:9210552G>A ENST00000327827.7 + 4 1008 c.611G>A c.(610-612)aGc>aAc p.S204N NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 204 endometrium(4)|large_intestine(2)|lung(2) 8 GCTAGTATAAGCGTGCGTTCG 0.433000 6 665 0 0 1 0 0 MACROD2 140733 broad.mit.edu 37 20 15948196 15948196 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:15948196A>T ENST00000217246.4 + 13 1302 c.e13-1 MACROD2_ENST00000378058.3_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000310348.4_Splice_Site NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) GTTTGTTGTTAGATTTTGCAA 0.363000 6 155 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30973983 30973983 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:30973983C>T ENST00000298139.5 + 20 2636 c.2387C>T c.(2386-2388)gCg>gTg p.A796V NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 796 Helicase C-terminal. 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) ACATACCATGCGGGCATGAGT 0.393000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 5 267 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93837804 93837804 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:93837804A>T ENST00000315765.9 + 16 2801 c.2793A>T c.(2791-2793)gtA>gtT p.V931V NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 931 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TGTTTTTGGTATTTAATGAGA 0.373000 10 357 0 0 1 0 0 ELL2 22936 broad.mit.edu 37 5 95242266 95242266 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:95242266A>T ENST00000237853.4 - 5 1051 c.702T>A c.(700-702)aaT>aaA p.N234K ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 234 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TGTCTTTTTGATTGACACCAT 0.468000 4 183 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163044875 163044875 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:163044875T>A ENST00000188790.4 - 20 1827 c.e20-2 FAP_ENST00000443424.1_Splice_Site NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.?(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 CCACCATACCTAAAGGAAAAA 0.383000 6 159 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771624 143771624 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:143771624G>T ENST00000408898.2 + 1 350 c.312G>T c.(310-312)ttG>ttT p.L104F NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TTCTGTTTTTGAGTTTTGCAC 0.532000 7 418 1.6384e-10 1.75849e-10 1 1 0 ZNF12 7559 broad.mit.edu 37 7 6731556 6731556 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:6731556G>T ENST00000405858.1 - 5 1558 c.1017C>A c.(1015-1017)caC>caA p.H339Q ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|AC073343.13_ENST00000366167.2_RNA NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 339 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GCTGAATGAGGTGTAACTTCT 0.443000 27 85 0.00127121 0.00135322 1 1 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 3 21 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89720860 89720860 + Missense_Mutation SNP T T A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:89720860T>A ENST00000371953.3 + 8 2368 c.1011T>A c.(1009-1011)ttT>ttA p.F337L PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 337 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ACCGATACTTTTCTCCAAATT 0.338000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 4 93 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102849529 102849529 + Missense_Mutation SNP G G C TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:102849529G>C ENST00000264257.2 + 10 1368 c.1242G>C c.(1240-1242)gaG>gaC p.E414D IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 414 TIR. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 AGGTGTTGGAGAGACAATGTG 0.448000 47 67 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95535270 95535270 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:95535270G>T ENST00000343958.4 - 6 2954 c.2731C>A c.(2731-2733)Cca>Aca p.P911T FGD6_ENST00000549499.1_Missense_Mutation_p.P911T|FGD6_ENST00000546711.1_Missense_Mutation_p.P911T NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 911 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TCAATCACTGGTTTCCCAAGT 0.443000 28 40 3.65163e-15 4.1553e-15 1 1 0 MUC17 140453 broad.mit.edu 37 7 100686235 100686235 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:100686235G>T ENST00000306151.4 + 3 11602 c.11538G>T c.(11536-11538)ttG>ttT p.L3846F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3846 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTTTGCTCACCTCTA 0.463000 45 97 6.4771e-29 7.91646e-29 1 1 0 IGHG2 3501 broad.mit.edu 37 14 106110141 106110141 + RNA SNP G G A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:106110141G>A ENST00000390545.2 - 0 476 CCTCCACGCCGTCCACGTACC 0.617000 46 45 0 0 1 0 0 TRNT1 51095 broad.mit.edu 37 3 3170805 3170805 + Silent SNP A A T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:3170805A>T ENST00000251607.6 + 2 183 c.81A>T c.(79-81)ctA>ctT p.L27L TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 27 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) AGCAGTATCTATTCACAATGA 0.488000 40 114 0 0 1 0 0 FAM35A 54537 broad.mit.edu 37 10 88946959 88946959 + Splice_Site SNP T T G TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:88946959T>G ENST00000298786.4 + 9 2629 c.e9+2 FAM35A_ENST00000298784.1_Splice_Site Q86V20 FA35A_HUMAN family with sequence similarity 35, member A endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 GAGTGATAGGTAATATATCAG 0.368000 4 52 0 0 1 0 0 MIR4485 100616263 broad.mit.edu 37 MT 2828 2828 + RNA SNP G G A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrM:2828G>A ENST00000387347.2 + 0 1158 NR_039705.1 GGCGACCTCGGAGCAGAACCC 0.428000 78 199 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088696 86088696 + Silent SNP C C A rs148371022 TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:86088696C>A ENST00000330753.4 + 2 1605 c.838C>A c.(838-840)Cgg>Agg p.R280R FLRT2_ENST00000554746.1_Silent_p.R280R NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 280 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TAAGCTGGAACGGCTGGATAT 0.483000 145 49 9.15414e-77 1.16187e-76 1 1 0 MT-ND6 4541 broad.mit.edu 37 MT 14423 14423 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrM:14423G>A ENST00000361681.2 - 1 250 c.251C>T c.(250-252)tCa>tTa p.S84L mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 CCTCAACCCCTGACCCCCATG 0.453000 30 334 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15077 15077 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrM:15077G>A ENST00000361789.2 + 1 331 c.331G>A c.(331-333)Gaa>Aaa p.111_111insK mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 TTCTCTACTCAGAAACCTGAA 0.483000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 13 272 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725572 32725572 + Silent SNP G G A rs116284473 byFrequency TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:32725572G>A ENST00000435145.2 - 4 796 c.735C>T c.(733-735)atC>atT p.I245I HLA-DQB2_ENST00000437316.2_Silent_p.I245I|HLA-DQB2_ENST00000411527.1_Intron Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 TGTGACGGATGATAAGGCCCA 0.557000 3 22 0 0 1 0 0 SYNJ2BP 55333 broad.mit.edu 37 14 70855304 70855304 + Silent SNP G G A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:70855304G>A ENST00000256366.4 - 2 165 c.84C>T c.(82-84)gtC>gtT p.V28V SYNJ2BP_ENST00000554216.1_Intron|RP11-718G2.3_ENST00000555276.1_RNA NM_018373.2 NP_060843.2 synaptojanin 2 binding protein central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) CTGTCCCACCGACGATGTTGA 0.522000 4 19 0 0 1 0 0 MIR4485 100616263 broad.mit.edu 37 MT 1748 1748 + RNA SNP G G A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrM:1748G>A ENST00000387347.2 + 0 78 NR_039705.1 AATAAAGTATAGGCGATAGAA 0.408000 34 207 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883378 228883378 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:228883378C>T ENST00000392056.3 - 7 2238 c.2192G>A c.(2191-2193)gGt>gAt p.G731D SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 731 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGGACATTCACCAAGCCGTAC 0.443000 7 187 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92430268 92430268 + Nonsense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:92430268G>T ENST00000370389.2 + 3 982 c.58G>T c.(58-60)Gaa>Taa p.E20* BRDT_ENST00000362005.3_Nonsense_Mutation_p.E93*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.E93*|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Nonsense_Mutation_p.E93* NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GAAGGCTTCAGAATGTATAGA 0.279000 3 37 1 1 1 1 0 LAMB1 3912 broad.mit.edu 37 7 107592482 107592482 + Missense_Mutation SNP G G C TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:107592482G>C ENST00000393561.1 - 21 3522 c.3338C>G c.(3337-3339)gCt>gGt p.A1113G LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G P07942 LAMB1_HUMAN laminin, beta 1 1089 Laminin EGF-like 12. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAGGAATGAGCAGCATTGCA 0.567000 24 26 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70255667 70255667 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:70255667G>T ENST00000342771.4 + 19 3786 c.3465G>T c.(3463-3465)ttG>ttT p.L1155F AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1155 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGGAGCGCTTGCACATGCTCA 0.692000 17 76 2.48551e-13 2.73406e-13 1 1 0 SLC22A6 9356 broad.mit.edu 37 11 62744726 62744726 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:62744726C>T ENST00000377871.3 - 9 1761 c.1495G>A c.(1495-1497)Gct>Act p.A499T SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 499 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ACAGTGACAGCGCTGGCGGCC 0.637000 51 69 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241534490 241534490 + Silent SNP C C A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:241534490C>A ENST00000391984.2 + 7 1243 c.1047C>A c.(1045-1047)ggC>ggA p.G349G CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 349 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) GGGTCAAGGGCCAGTCAGCAG 0.632000 42 40 7.63091e-17 8.99357e-17 1 1 0 TDRD1 56165 broad.mit.edu 37 10 115973808 115973808 + Missense_Mutation SNP T T C TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:115973808T>C ENST00000251864.2 + 16 2300 c.2147T>C c.(2146-2148)gTa>gCa p.V716A TDRD1_ENST00000369280.1_Missense_Mutation_p.V716A|TDRD1_ENST00000422662.1_Missense_Mutation_p.V320A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V659A|TDRD1_ENST00000369282.1_Missense_Mutation_p.V716A NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 716 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GACCAAACAGTAGATGTTGTG 0.363000 4 140 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3172134 3172134 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:3172134G>A ENST00000381075.2 + 19 2007 c.1783G>A c.(1783-1785)Gca>Aca p.A595T PFKP_ENST00000381072.1_Missense_Mutation_p.A21T|PFKP_ENST00000381125.4_Missense_Mutation_p.A603T NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 603 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) AGCTGATGCCGCATACATTTT 0.647000 4 95 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671742 45671742 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:45671742G>T ENST00000308064.2 - 4 1402 c.732C>A c.(730-732)agC>agA p.S244R NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 244 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGAAGGTCTCGCTGCGCGAAG 0.657000 7 124 0.00198382 0.00204581 1 1 0 SFRP2 6423 broad.mit.edu 37 4 154702608 154702608 + Missense_Mutation SNP A A C TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:154702608A>C ENST00000274063.4 - 3 1167 c.883T>G c.(883-885)Tgc>Ggc p.C295G NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 295 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) CGGGACTAGCACTGCAGCTTG 0.617000 29 46 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151277140 151277140 + Missense_Mutation SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr6:151277140C>A ENST00000367321.3 + 17 2010 c.1736C>A c.(1735-1737)aCa>aAa p.T579K NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 579 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GTATTGGATACAAATGACCGA 0.483000 8 82 0.335167 0.335167 1 1 0 SLC5A10 125206 broad.mit.edu 37 17 18918498 18918498 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr17:18918498C>T ENST00000317977.6 + 10 1597 c.1026C>T c.(1024-1026)ctC>ctT p.L342L SLC5A10_ENST00000395645.3_Silent_p.L409L|SLC5A10_ENST00000395643.2_Silent_p.L382L|SLC5A10_ENST00000395647.2_Silent_p.L425L|SLC5A10_ENST00000417251.2_Silent_p.L373L|SLC5A10_ENST00000395642.1_Silent_p.L342L A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 409 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 AGCGGGAGCTCCTGCTGGTGG 0.657000 3 51 0 0 1 0 0 SLC43A1 8501 broad.mit.edu 37 11 57256464 57256464 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:57256464T>A ENST00000278426.3 - 13 1691 c.e13-2 SLC43A1_ENST00000528450.1_Splice_Site NM_003627.5 NP_003618.1 O75387 LAT3_HUMAN solute carrier family 43 (amino acid system L transporter), member 1 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 GGTCACAAACTAAAACCAAAA 0.532000 10 257 0 0 1 0 0 OMP 4975 broad.mit.edu 37 11 76814108 76814108 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:76814108C>T ENST00000529803.1 + 1 223 c.223C>T c.(223-225)Ccg>Tcg p.P75S CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 75 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 GCTGGACAAGCCGGGCAAGGT 0.622000 3 47 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57372286 57372286 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr6:57372286A>T ENST00000607273.1 + 8 780 c.e8-1 PRIM2_ENST00000389488.2_Splice_Site NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CCCTGCTTTTAGTTAACAGCC 0.428000 5 142 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18534919 18534919 + Missense_Mutation SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr20:18534919C>A ENST00000336714.3 + 18 2465 c.2033C>A c.(2032-2034)cCc>cAc p.P678H SEC23B_ENST00000377465.1_Missense_Mutation_p.P678H|SEC23B_ENST00000262544.2_Missense_Mutation_p.P678H|SEC23B_ENST00000377475.3_Missense_Mutation_p.P678H NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 678 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 CAGGACATGCCCGAGTATGAA 0.483000 11 725 2.27111e-07 2.5464e-07 1 1 0 SGMS1 259230 broad.mit.edu 37 10 52067829 52067829 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:52067829C>T ENST00000361781.2 - 10 1934 c.975G>A c.(973-975)gcG>gcA p.A325A SGMS1_ENST00000429490.1_Silent_p.A156A NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 331 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 AGTGGTCATGCGCTAAGAGAA 0.507000 5 321 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38211143 38211143 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr13:38211143A>T ENST00000379705.3 - 11 3688 c.2831T>A c.(2830-2832)aTa>aAa p.I944K TRPC4_ENST00000379673.2_Missense_Mutation_p.I795K|TRPC4_ENST00000358477.2_Missense_Mutation_p.I860K|TRPC4_ENST00000355779.2_Missense_Mutation_p.I803K|TRPC4_ENST00000338947.5_Missense_Mutation_p.I771K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.I771K|TRPC4_ENST00000379681.3_Missense_Mutation_p.I949K|TRPC4_ENST00000447043.1_Missense_Mutation_p.I803K Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 944 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTCCTTTGGTATTATAGGAAC 0.453000 5 326 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397952 125397952 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:125397952G>A ENST00000536769.1 - 1 1942 c.366C>T c.(364-366)gcC>gcT p.A122A UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Silent_p.A122A|UBC_ENST00000339647.5_Silent_p.A122A P0CG48 UBC_HUMAN ubiquitin C 122 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(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GCTGCTTTCCGGCAAAGATCA 0.547000 19 465 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719281 140719281 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:140719281G>A ENST00000394576.2 + 1 743 c.743G>A c.(742-744)cGc>cAc p.R248H PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGAGTACCGCATAAGCATT 0.557000 4 223 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2876174 2876174 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr8:2876174T>A ENST00000602557.1 - 53 8414 c.e53-2 CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACGAGATAACTAGAAGGAAAA 0.378000 7 222 0 0 1 0 0 FBXL3 26224 broad.mit.edu 37 13 77581635 77581635 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr13:77581635G>A ENST00000355619.5 - 5 1256 c.932C>T c.(931-933)aCc>aTc p.T311I FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 311 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) GTACAGATGGGTGGCAGGTAT 0.408000 5 99 0 0 1 0 0 SYNJ2BP 55333 broad.mit.edu 37 14 70855304 70855304 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:70855304G>A ENST00000256366.4 - 2 165 c.84C>T c.(82-84)gtC>gtT p.V28V SYNJ2BP_ENST00000554216.1_Intron|RP11-718G2.3_ENST00000555276.1_RNA NM_018373.2 NP_060843.2 synaptojanin 2 binding protein central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) CTGTCCCACCGACGATGTTGA 0.522000 16 39 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53077787 53077787 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr8:53077787T>A ENST00000276480.7 - 12 1888 c.e12-2 NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGGCAAGAACTAAGCACAAAA 0.428000 6 387 0 0 1 0 0 IGHV3-48 28424 broad.mit.edu 37 14 106994250 106994250 + RNA SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:106994250G>A ENST00000390624.2 - 0 96 GGAAAACCCAGCACAGCCCCA 0.473000 4 395 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41596049 41596049 + Silent SNP A A G rs149580014 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:41596049A>G ENST00000330436.3 + 3 441 c.441A>G c.(439-441)gaA>gaG p.E147E NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 147 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GCATCGAGGAACGCATCCAGG 0.697000 3 141 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35879085 35879085 + Silent SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr17:35879085G>T ENST00000339208.6 - 22 4043 c.3903C>A c.(3901-3903)gtC>gtA p.V1301V SYNRG_ENST00000394378.2_Silent_p.V1246V|SYNRG_ENST00000585472.1_Silent_p.V1222V|SYNRG_ENST00000591288.1_Silent_p.V1095V|SYNRG_ENST00000502449.2_Silent_p.V1166V|SYNRG_ENST00000345615.4_Silent_p.V1211V|SYNRG_ENST00000346661.4_Silent_p.V1289V NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 1301 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GCTTTGGTTCGACACAGTTGA 0.517000 41 595 1.7489e-18 2.03809e-18 1 1 0 CEACAM5 1048 broad.mit.edu 37 19 42221515 42221515 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:42221515C>T ENST00000221992.6 + 5 1214 c.1100C>T c.(1099-1101)cCc>cTc p.P367L CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P366L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P367L NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 367 Ig-like 4. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCGGTCAGTCCCAGGCTGCAG 0.498000 5 610 0 0 1 0 0 SCGB1D4 404552 broad.mit.edu 37 11 62065065 62065065 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:62065065C>T ENST00000358585.1 - 2 174 c.121G>A c.(121-123)Gcg>Acg p.A41T NM_206998.1 NP_996881.1 Q6XE38 SG1D4_HUMAN secretoglobin, family 1D, member 4 41 extracellular region binding lung(1)|prostate(1) 2 AGGTTTACCGCAGCGTCACTT 0.438000 5 425 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 44 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158577035 158577035 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:158577035G>A ENST00000361284.1 + 1 807 c.807G>A c.(805-807)gaG>gaA p.E269E NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) ACTCTCTTGAGAGAGATCAGC 0.478000 5 573 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35717254 35717254 + Nonsense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr9:35717254G>A ENST00000314888.9 - 19 2700 c.2347C>T c.(2347-2349)Cag>Tag p.Q783* TLN1_ENST00000540444.1_Nonsense_Mutation_p.Q783* NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 783 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TTCACATGCTGCAGCAGCTCA 0.582000 6 241 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107592482 107592482 + Missense_Mutation SNP G G C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:107592482G>C ENST00000393561.1 - 21 3522 c.3338C>G c.(3337-3339)gCt>gGt p.A1113G LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G P07942 LAMB1_HUMAN laminin, beta 1 1089 Laminin EGF-like 12. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAGGAATGAGCAGCATTGCA 0.567000 68 52 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70255667 70255667 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:70255667G>T ENST00000342771.4 + 19 3786 c.3465G>T c.(3463-3465)ttG>ttT p.L1155F AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1155 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGGAGCGCTTGCACATGCTCA 0.692000 11 47 4.36969e-10 4.97472e-10 1 1 0 FAM198B 51313 broad.mit.edu 37 4 159092036 159092036 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr4:159092036A>T ENST00000296530.8 - 2 1113 c.492T>A c.(490-492)ccT>ccA p.P164P FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Silent_p.P164P|FAM198B_ENST00000585682.1_Silent_p.P164P|FAM198B_ENST00000393807.5_Silent_p.P164P|RP11-597D13.9_ENST00000503611.1_RNA NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 164 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 GAGCGTACCCAGGTGCTACAG 0.637000 OREG0016378 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 114 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854274 40854274 + Missense_Mutation SNP C C G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:40854274C>G ENST00000254691.5 + 3 3039 c.2840C>G c.(2839-2841)tCc>tGc p.S947C CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 947 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TCCGATCAGTCCAACCCATCC 0.512000 9 478 0 0 1 0 0 SPP1 6696 broad.mit.edu 37 4 88903976 88903976 + Missense_Mutation SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr4:88903976T>A ENST00000237623.7 + 6 979 c.831T>A c.(829-831)agT>agA p.S277R SPP1_ENST00000360804.4_Missense_Mutation_p.S264R|SPP1_ENST00000395080.3_Missense_Mutation_p.S291R|SPP1_ENST00000509659.1_3'UTR NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 291 SHEF -> GNSL (in Ref. 2). biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) ACCCCAAAAGTAAGGAAGAAG 0.373000 4 109 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954569 30954569 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr6:30954569G>A ENST00000376296.3 + 2 858 c.617G>A c.(616-618)gGg>gAg p.G206E MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 206 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ACCTCCAGTGGGGCCAGCACA 0.622000 4 210 0 0 1 0 0 SFRP2 6423 broad.mit.edu 37 4 154702608 154702608 + Missense_Mutation SNP A A C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr4:154702608A>C ENST00000274063.4 - 3 1167 c.883T>G c.(883-885)Tgc>Ggc p.C295G NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 295 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) CGGGACTAGCACTGCAGCTTG 0.617000 31 71 0 0 1 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36935784 36935784 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr17:36935784T>A ENST00000269554.3 - 5 988 c.e5-2 PIP4K2B_ENST00000311500.6_Splice_Site NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 CACTATAAACTAGAATGGAAA 0.532000 5 242 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150746080 150746080 + Silent SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:150746080C>A ENST00000357922.4 + 1 702 c.108C>A c.(106-108)ggC>ggA p.G36G ASIC3_ENST00000349064.5_Silent_p.G36G|ASIC3_ENST00000297512.8_Silent_p.G36G NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 36 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity TCGGGCCAGGCAGCCTGAGCC 0.697000 6 49 0.00621372 0.00643098 1 1 0 AGTR1 185 broad.mit.edu 37 3 148459298 148459298 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr3:148459298C>T ENST00000542281.1 + 4 922 c.476C>T c.(475-477)gCc>gTc p.A159V AGTR1_ENST00000474935.1_Missense_Mutation_p.A159V|AGTR1_ENST00000461609.1_Missense_Mutation_p.A159V|AGTR1_ENST00000475347.1_Missense_Mutation_p.A159V|AGTR1_ENST00000418473.2_Missense_Mutation_p.A159V|AGTR1_ENST00000349243.3_Missense_Mutation_p.A159V|AGTR1_ENST00000402260.1_Missense_Mutation_p.A159V|AGTR1_ENST00000497524.1_Missense_Mutation_p.A159V|AGTR1_ENST00000404754.2_Missense_Mutation_p.A159V NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 159 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) GCAGGCTTGGCCAGTTTGCCA 0.458000 4 266 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167750453 167750453 + Missense_Mutation SNP T T C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr3:167750453T>C ENST00000470487.1 - 9 1720 c.1031A>G c.(1030-1032)gAg>gGg p.E344G GOLIM4_ENST00000309027.4_Missense_Mutation_p.E316G NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 344 Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TTCTTCCTCCTCCAGGGCCTT 0.552000 4 342 0 0 1 0 0 ZNF16 7564 broad.mit.edu 37 8 146156711 146156711 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr8:146156711G>A ENST00000276816.4 - 4 1648 c.1462C>T c.(1462-1464)Ccg>Tcg p.P488S ZNF16_ENST00000394909.2_Missense_Mutation_p.P488S NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CATCTGTACGGCTTCTCTCCC 0.547000 5 367 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223163965 223163965 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:223163965A>T ENST00000284476.6 + 4 703 c.e4-1 DISP1_ENST00000495684.1_Splice_Site NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TGTGTTTTGTAGTTATGCAGC 0.478000 5 185 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107148850 107148850 + Missense_Mutation SNP C C T rs138552159 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chrX:107148850C>T ENST00000262843.6 + 5 1615 c.1067C>T c.(1066-1068)gCt>gTt p.A356V RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.A356V NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 356 COS. centrosome|microtubule ligase activity|zinc ion binding p.A336D(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 AAAAATATTGCTGAGAGGTCA 0.428000 6 916 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1718106 1718106 + Silent SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:1718106C>A ENST00000397412.3 + 18 3345 c.3246C>A c.(3244-3246)ggC>ggA p.G1082G CRAMP1L_ENST00000262317.4_Silent_p.G460G|CRAMP1L_ENST00000293925.5_Silent_p.G1082G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G1079G Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 1082 Ser-rich. nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CCCTGCCCGGCCCACCTGAGG 0.617000 8 145 0.307466 0.309558 1 1 0 MEGF10 84466 broad.mit.edu 37 5 126676271 126676271 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:126676271C>T ENST00000274473.6 + 5 535 c.268C>T c.(268-270)Cgc>Tgc p.R90C MEGF10_ENST00000418761.2_Missense_Mutation_p.R90C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R90C|MEGF10_ENST00000508365.1_Missense_Mutation_p.R90C NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 90 EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TATGTATAGGCGCAAGTCTCA 0.418000 5 472 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106091410 106091410 + RNA SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:106091410C>T ENST00000390543.2 - 0 483 TGCACCTCCACGCCATCCACG 0.607000 8 1102 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 3 106 0 0 1 0 0 SENP6 26054 broad.mit.edu 37 6 76380267 76380267 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr6:76380267A>T ENST00000370014.3 + 11 1843 c.e11-1 SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) TTTCCTTTTTAGTTTGGCAAT 0.323000 7 118 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686235 100686235 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:100686235G>T ENST00000306151.4 + 3 11602 c.11538G>T c.(11536-11538)ttG>ttT p.L3846F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3846 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTTTGCTCACCTCTA 0.463000 31 100 1.36161e-19 1.59936e-19 1 1 0 TRNT1 51095 broad.mit.edu 37 3 3170805 3170805 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr3:3170805A>T ENST00000251607.6 + 2 183 c.81A>T c.(79-81)ctA>ctT p.L27L TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000402675.1_Silent_p.L27L NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 27 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) AGCAGTATCTATTCACAATGA 0.488000 56 105 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553761 19553761 + Missense_Mutation SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:19553761C>A ENST00000409832.3 + 1 397 c.345C>A c.(343-345)agC>agA p.S115R NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 115 p.S115R(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GCGGCAAGAGCAAAGTGGGCC 0.597000 21 330 2.24395e-52 2.70004e-52 1 1 0 TMEM209 84928 broad.mit.edu 37 7 129841933 129841933 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:129841933T>A ENST00000397622.2 - 5 454 c.e5-2 TMEM209_ENST00000462753.1_Splice_Site|TMEM209_ENST00000336804.8_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Splice_Site NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) TCTGTACAACTAGAAGGAAAA 0.388000 7 178 0 0 1 0 0 EBPL 84650 broad.mit.edu 37 13 50235160 50235160 + Missense_Mutation SNP G G C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr13:50235160G>C ENST00000242827.6 - 4 615 c.565C>G c.(565-567)Cta>Gta p.L189V EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR NM_032565.3 NP_115954.1 Q9BY08 EBPL_HUMAN emopamil binding protein-like 189 sterol metabolic process endoplasmic reticulum membrane|integral to membrane cholestenol delta-isomerase activity p.L189V(9) endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.06e-09) TTGAGTTCTAGCCATGACTGC 0.418000 6 61 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93757421 93757421 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:93757421A>T ENST00000265990.6 + 25 3881 c.3573A>T c.(3571-3573)gtA>gtT p.V1191V BTAF1_ENST00000544642.1_Silent_p.V19V NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1191 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TTGTTCCTGTATTAGGAAGAA 0.388000 6 147 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154562732 154562732 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:154562732G>A ENST00000368474.4 - 7 2623 c.2424C>T c.(2422-2424)acC>acT p.T808T ADAR_ENST00000368471.3_Silent_p.T513T|ADAR_ENST00000292205.5_Silent_p.T851T NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 808 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CTGTCACTGGGGTTACCTCTG 0.527000 5 109 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 8 68 0 0 1 0 0 CYLD 1540 broad.mit.edu 37 16 50827498 50827498 + Nonsense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:50827498G>T ENST00000540145.1 + 17 2807 c.2392G>T c.(2392-2394)Gag>Tag p.E798* CYLD_ENST00000398568.2_Nonsense_Mutation_p.E795*|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Nonsense_Mutation_p.E798*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.E795*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.E613*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.E798* Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 798 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) TGCAATGTATGAGTGTAGAGA 0.438000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 16 282 2.35188e-11 2.69828e-11 1 1 0 FAM120B 84498 broad.mit.edu 37 6 170627767 170627767 + Missense_Mutation SNP A A G rs6900202 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr6:170627767A>G ENST00000476287.1 + 2 1397 c.1289A>G c.(1288-1290)gAc>gGc p.D430G FAM120B_ENST00000537664.1_Missense_Mutation_p.D453G|FAM120B_ENST00000540480.1_Missense_Mutation_p.D442G|FAM120B_ENST00000252510.9_Intron NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 430 D -> G (in dbSNP:rs6900202). cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) ATGTATACAGACTCTGAACCC 0.512000 5 512 0 0 1 0 0 DPY19L4 286148 broad.mit.edu 37 8 95751944 95751944 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr8:95751944A>T ENST00000414645.2 + 6 636 c.537A>T c.(535-537)ttA>ttT p.L179F NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 179 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) TTACTGCTTTATTTGTTACAA 0.348000 5 257 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37620095 37620095 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr20:37620095A>T ENST00000252011.3 + 6 483 c.e6-1 DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) TTTATTTTTTAGTTTCTTACT 0.313000 4 142 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139175195 139175195 + Missense_Mutation SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr6:139175195C>A ENST00000423192.1 + 9 1263 c.1102C>A c.(1102-1104)Cct>Act p.P368T ECT2L_ENST00000541398.1_Missense_Mutation_p.P299T|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.P368T Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 368 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TTTACTGAGGCCTGAAGTGAG 0.393000 """N, Splice, Mis""" ETP ALL 4 430 0.014758 0.0151679 1 1 0 FAT3 120114 broad.mit.edu 37 11 92532309 92532309 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:92532309C>T ENST00000298047.6 + 9 6147 c.6130C>T c.(6130-6132)Cgt>Tgt p.R2044C FAT3_ENST00000525166.1_Missense_Mutation_p.R1894C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2044C Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2044 Cadherin 18. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCCCTTTGACCGTGAAGAACA 0.468000 TCGA Ovarian(4;0.039) 3 95 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24854824 24854824 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:24854824T>A ENST00000313367.2 - 19 2479 c.e19-2 OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TCCCCAAAACTAAAAAGAAGG 0.378000 11 211 0 0 1 0 0 MTHFR 4524 broad.mit.edu 37 1 11861228 11861228 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:11861228C>T ENST00000376592.1 - 2 593 c.465G>A c.(463-465)gcG>gcA p.A155A MTHFR_ENST00000376583.3_Silent_p.A196A|MTHFR_ENST00000376585.1_Silent_p.A196A|MTHFR_ENST00000376590.3_Silent_p.A155A P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 155 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) CTCCCCGCAGCGCCATGATGT 0.587000 3 107 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744726 62744726 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:62744726C>T ENST00000377871.3 - 9 1761 c.1495G>A c.(1495-1497)Gct>Act p.A499T SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T|SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 499 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ACAGTGACAGCGCTGGCGGCC 0.637000 45 69 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295576 62295576 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:62295576G>A ENST00000378024.4 - 5 6587 c.6313C>T c.(6313-6315)Ctt>Ttt p.L2105F AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2105 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGCATCTTAAGCTTGGGGCCC 0.527000 5 671 0 0 1 0 0 ZMAT2 153527 broad.mit.edu 37 5 140083501 140083501 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:140083501A>T ENST00000274712.3 + 4 363 c.e4-1 NM_144723.1 NP_653324.1 Q96NC0 ZMAT2_HUMAN zinc finger, matrin-type 2 nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCCTGTTAGATATTACTG 0.368000 8 680 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671742 45671742 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:45671742G>T ENST00000308064.2 - 4 1402 c.732C>A c.(730-732)agC>agA p.S244R NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 244 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGAAGGTCTCGCTGCGCGAAG 0.657000 5 175 0.00198382 0.00208231 1 1 0 OR5AU1 390445 broad.mit.edu 37 14 21623380 21623380 + Missense_Mutation SNP A A G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:21623380A>G ENST00000304418.3 - 1 842 c.805T>C c.(805-807)Tac>Cac p.Y269H NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) ATTAAGAAGTAGGAGATCAAG 0.488000 4 75 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57572306 57572306 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:57572306G>A ENST00000243077.3 + 27 4992 c.4526G>A c.(4525-4527)gGc>gAc p.G1509D NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1509 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AAGTGGACCGGCCACAATGTC 0.622000 4 264 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271141 59271141 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:59271141A>T ENST00000313253.1 + 1 93 c.93A>T c.(91-93)ttA>ttT p.L31F NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 TTCTTTTTTTATGTCTTGTGT 0.448000 5 261 0 0 1 0 0 CTXN3 613212 broad.mit.edu 37 5 126993328 126993328 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:126993328A>T ENST00000379445.3 + 3 666 c.115A>T c.(115-117)Att>Ttt p.I39F CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F NM_001048252.2 NP_001041717.1 Q4LDR2 CTXN3_HUMAN cortexin 3 39 integral to membrane endometrium(1)|large_intestine(2)|lung(1) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038) TCTGTTGTTTATTTTCTTGGG 0.483000 7 260 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158059959 158059959 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr4:158059959A>T ENST00000264428.4 + 7 880 c.e7-1 GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Splice_Site NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TTTTGTTTATAGTTGGTTACA 0.259000 3 21 0 0 1 0 0 PSMD2 5708 broad.mit.edu 37 3 184020156 184020156 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr3:184020156A>T ENST00000310118.4 + 6 1262 c.e6-1 EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site|PSMD2_ENST00000435761.1_Splice_Site NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 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) TTACTTTTGTAGTTGTGTGAA 0.413000 4 93 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089442 9089442 + Silent SNP A A G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:9089442A>G ENST00000397910.4 - 1 2576 c.2373T>C c.(2371-2373)ccT>ccC p.P791P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 791 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 GATGAGTCAGAGGGGAAGTTG 0.502000 34 1611 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883378 228883378 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:228883378C>T ENST00000392056.3 - 7 2238 c.2192G>A c.(2191-2193)gGt>gAt p.G731D SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 731 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGGACATTCACCAAGCCGTAC 0.443000 6 255 0 0 1 0 0 ELL2 22936 broad.mit.edu 37 5 95242265 95242265 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:95242265G>T ENST00000237853.4 - 5 1052 c.703C>A c.(703-705)Caa>Aaa p.Q235K ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 235 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TTGTCTTTTTGATTGACACCA 0.468000 5 185 4.096e-09 4.62754e-09 1 1 0 WIF1 11197 broad.mit.edu 37 12 65462686 65462686 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:65462686T>A ENST00000286574.4 - 4 772 c.e4-2 NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CTTGAACAACTAAAAGAAAAA 0.373000 T HMGA2 pleomorphic salivary gland adenoma 6 108 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241534490 241534490 + Silent SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:241534490C>A ENST00000391984.2 + 7 1243 c.1047C>A c.(1045-1047)ggC>ggA p.G349G CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 349 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) GGGTCAAGGGCCAGTCAGCAG 0.632000 15 31 8.24728e-16 9.53592e-16 1 1 0 MYBPC1 4604 broad.mit.edu 37 12 102045089 102045089 + Missense_Mutation SNP T T C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:102045089T>C ENST00000549145.1 + 15 1508 c.1408T>C c.(1408-1410)Tct>Cct p.S470P MYBPC1_ENST00000545503.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S445P|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S444P|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S438P|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S443P|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S358P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S431P|RP11-755O11.2_ENST00000547027.1_RNA Q00872 MYPC1_HUMAN myosin binding protein C, slow type 457 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GTGTGAAATCTCTGAAAACAT 0.428000 10 395 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81743834 81743834 + Silent SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:81743834C>A ENST00000555447.1 - 6 2233 c.1821G>T c.(1819-1821)ggG>ggT p.G607G STON2_ENST00000267540.2_Silent_p.G607G NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 607 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACTCTGCGAGCCCAGACAGGA 0.507000 16 157 5.3912e-06 5.8669e-06 1 1 0 ATP1A2 477 broad.mit.edu 37 1 160091024 160091024 + Missense_Mutation SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:160091024C>A ENST00000361216.3 + 3 249 c.160C>A c.(160-162)Caa>Aaa p.Q54K ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q54K NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 54 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCGCAAATACCAAGTGGACCT 0.517000 9 515 3.86212e-05 4.14198e-05 1 1 0 WFDC8 90199 broad.mit.edu 37 20 44181861 44181861 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr20:44181861G>A ENST00000357199.4 - 5 578 c.500C>T c.(499-501)cCt>cTt p.P167L WFDC8_ENST00000289953.2_Missense_Mutation_p.P167L NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 167 WAP 2. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) GTGACATGAAGGTGGACACTC 0.488000 5 614 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54901678 54901678 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:54901678G>A ENST00000293373.6 + 4 427 c.348G>A c.(346-348)caG>caA p.Q116Q NCKAP1L_ENST00000545638.2_Silent_p.Q66Q NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 116 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ATGCCTGCCAGTGCCATTTTG 0.418000 4 641 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52159702 52159702 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:52159702G>T ENST00000354534.5 + 16 2970 c.2792G>T c.(2791-2793)cGa>cTa p.R931L SCN8A_ENST00000550891.1_Missense_Mutation_p.R931L|SCN8A_ENST00000545061.1_Missense_Mutation_p.R931L NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 931 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity p.R931L(2)|p.R931Q(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ATTGTCTTTCGAGTGTTGTGC 0.498000 6 1231 2.56e-06 2.82746e-06 1 1 0 AGO4 192670 broad.mit.edu 37 1 36297167 36297167 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:36297167C>T ENST00000373210.3 + 8 1233 c.988C>T c.(988-990)Cca>Tca p.P330S NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 TACATACTTGCCACTCGAGGT 0.348000 3 80 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088696 86088696 + Silent SNP C C A rs148371022 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:86088696C>A ENST00000330753.4 + 2 1605 c.838C>A c.(838-840)Cgg>Agg p.R280R FLRT2_ENST00000554746.1_Silent_p.R280R NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 280 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TAAGCTGGAACGGCTGGATAT 0.483000 205 119 1.07919e-67 1.30918e-67 1 1 0 HNRNPL 3191 broad.mit.edu 37 19 39330801 39330801 + Missense_Mutation SNP C C G rs115791874 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:39330801C>G ENST00000221419.5 - 8 1534 c.1168G>C c.(1168-1170)Gat>Cat p.D390H AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C|HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 390 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding p.D390H(1)|p.D257H(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) TTAGATTGATCCAAGCCATAG 0.597000 3 104 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065088 9065088 + Missense_Mutation SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:9065088C>A ENST00000397910.4 - 3 22561 c.22358G>T c.(22357-22359)aGc>aTc p.S7453I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7455 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 AACTGAGGTGCTGCTCAAACT 0.478000 5 716 0.184627 0.187156 1 1 0 SMG7 9887 broad.mit.edu 37 1 183495733 183495733 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:183495733A>T ENST00000367537.3 + 6 597 c.402A>T c.(400-402)ttA>ttT p.L134F SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 105 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TCTTTTAGTTATTACAAGAAC 0.348000 4 97 0 0 1 0 0 ZNF565 147929 broad.mit.edu 37 19 36673739 36673739 + Nonsense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:36673739G>A ENST00000355114.5 - 5 1975 c.1249C>T c.(1249-1251)Cag>Tag p.Q417* ZNF565_ENST00000392173.2_Nonsense_Mutation_p.Q377*|ZNF565_ENST00000304116.5_Nonsense_Mutation_p.Q377* Q8N9K5 ZN565_HUMAN zinc finger protein 565 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(4)|ovary(1)|skin(2) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) CGTGTGAGCTGTGCGTGCTGT 0.468000 10 353 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6731556 6731556 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:6731556G>T ENST00000405858.1 - 5 1558 c.1017C>A c.(1015-1017)caC>caA p.H339Q ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 339 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GCTGAATGAGGTGTAACTTCT 0.443000 41 133 6.07928e-31 7.19786e-31 1 1 0 SRRT 51593 broad.mit.edu 37 7 100479340 100479340 + Silent SNP T T G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:100479340T>G ENST00000388793.4 + 4 532 c.312T>G c.(310-312)ggT>ggG p.G104G SRRT_ENST00000347433.4_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G|SRRT_ENST00000457580.2_Silent_p.G104G NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 104 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104G(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CTGGGGGGGGTGGGGGCCCAA 0.607000 8 219 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80764348 80764348 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:80764348A>T ENST00000458043.2 + 55 6594 c.e55-1 OTOGL_ENST00000546620.1_Splice_Site|OTOGL_ENST00000547103.1_Splice_Site NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTGATTTTTAGGTAGGGAGT 0.308000 5 117 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33467663 33467663 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:33467663A>T ENST00000265112.3 + 19 2334 c.e19-1 TARS_ENST00000414361.2_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000502553.1_Splice_Site NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) TGTTTGTTTTAGTTGTTGGTG 0.408000 4 87 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120801744 120801744 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:120801744G>A ENST00000369144.3 - 19 3415 c.3288C>T c.(3286-3288)gaC>gaT p.D1096D EIF3A_ENST00000541549.1_Silent_p.D1062D|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1096 25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TGGGACCCCGGTCATCATCCA 0.622000 8 397 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397946 125397946 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:125397946C>T ENST00000536769.1 - 1 1948 c.372G>A c.(370-372)aaG>aaA p.K124K UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Silent_p.K124K|UBC_ENST00000339647.5_Silent_p.K124K P0CG48 UBC_HUMAN ubiquitin C 124 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 p.K124K(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTTCCAGCTGCTTTCCGGCAA 0.542000 18 455 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6607201 6607201 + Silent SNP C C A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr17:6607201C>A ENST00000433363.2 - 4 776 c.543G>T c.(541-543)ctG>ctT p.L181L SLC13A5_ENST00000573648.1_Silent_p.L181L|SLC13A5_ENST00000293800.6_Silent_p.L164L|SLC13A5_ENST00000381074.4_Silent_p.L138L NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 181 integral to membrane citrate transmembrane transporter activity p.L181L(3) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 GCTCACCTGGCAGCTCCTTGG 0.642000 6 50 3.86212e-05 4.14198e-05 1 1 0 PTEN 5728 broad.mit.edu 37 10 89720860 89720860 + Missense_Mutation SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:89720860T>A ENST00000371953.3 + 8 2368 c.1011T>A c.(1009-1011)ttT>ttA p.F337L PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 337 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ACCGATACTTTTCTCCAAATT 0.338000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 12 130 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102849529 102849529 + Missense_Mutation SNP G G C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:102849529G>C ENST00000264257.2 + 10 1368 c.1242G>C c.(1240-1242)gaG>gaC p.E414D IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D|IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000481806.1_3'UTR NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 414 TIR. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 AGGTGTTGGAGAGACAATGTG 0.448000 85 141 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95535270 95535270 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:95535270G>T ENST00000343958.4 - 6 2954 c.2731C>A c.(2731-2733)Cca>Aca p.P911T FGD6_ENST00000546711.1_Missense_Mutation_p.P911T|FGD6_ENST00000549499.1_Missense_Mutation_p.P911T NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 911 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TCAATCACTGGTTTCCCAAGT 0.443000 77 99 1.53276e-45 1.82942e-45 1 1 0 SCN5A 6331 broad.mit.edu 37 3 38655278 38655278 + Missense_Mutation SNP G G C rs45620037 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr3:38655278G>C ENST00000443581.1 - 6 852 c.659C>G c.(658-660)aCc>aGc p.T220S SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000449557.2_Missense_Mutation_p.T220S|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.T220S|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.T220S NM_000335.4|NM_198056.2 NP_000326.2|NP_932173.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 220 T -> I (in SSS1; dbSNP:rs45620037). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GACTCGGAAGGTGCGTAAGGC 0.478000 3 24 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72420855 72420855 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr4:72420855A>T ENST00000340595.3 + 18 2758 c.e18-1 SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TTTTCCTTCTAGTTTATACCC 0.323000 8 427 0 0 1 0 0 ENTPD5 957 broad.mit.edu 37 14 74444079 74444079 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:74444079T>A ENST00000334696.6 - 7 761 c.e7-2 ENTPD5_ENST00000557325.1_Splice_Site NM_001249.2 NP_001240.1 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) CTCCTTTACCTAGAGAAAAAG 0.388000 4 77 0 0 1 0 0 TTC30A 92104 broad.mit.edu 37 2 178482598 178482598 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:178482598G>A ENST00000355689.4 - 1 1096 c.832C>T c.(832-834)Cca>Tca p.P278S AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 278 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) GCCCTGGGTGGCATGTCGGTG 0.507000 5 398 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 48 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 5 24 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41815528 41815528 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr15:41815528G>T ENST00000304330.4 - 18 2577 c.2461C>A c.(2461-2463)Ctc>Atc p.L821I RPAP1_ENST00000561603.1_Missense_Mutation_p.L821I NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 821 nucleus DNA binding|DNA-directed RNA polymerase activity p.L821I(1) NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) ATGTCCTGGAGCCAATCCTCC 0.577000 5 46 0.00307968 0.00320981 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72828641 72828641 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:72828641G>T ENST00000268489.5 - 9 8612 c.7940C>A c.(7939-7941)aCc>aAc p.T2647N ZFHX3_ENST00000397992.5_Missense_Mutation_p.T1733N NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2647 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGGTGTGATGGTTGTTCTCAA 0.502000 7 819 0.000274275 0.000289948 1 1 0 OR2L13 284521 broad.mit.edu 37 1 248262935 248262935 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:248262935C>T ENST00000366478.2 + 3 595 c.258C>T c.(256-258)tcC>tcT p.S86S OR2L13_ENST00000358120.2_Silent_p.S86S NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) ACTTCCTGTCCGGCCAGAAAG 0.542000 4 627 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172165637 172165637 + Silent SNP G G T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr3:172165637G>T ENST00000241256.2 - 1 609 c.567C>A c.(565-567)ggC>ggA p.G189G GHSR_ENST00000427970.1_Silent_p.G189G NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 189 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AAGGGTCGGTGCCGTTCTCGT 0.642000 6 91 5.9392e-07 6.60903e-07 1 1 0 KANK4 163782 broad.mit.edu 37 1 62739504 62739504 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:62739504G>A ENST00000371153.4 - 3 1650 c.1272C>T c.(1270-1272)acC>acT p.T424T KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 424 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 ACGACTCCCTGGTCAAGAGTC 0.557000 4 462 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106110141 106110141 + RNA SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:106110141G>A ENST00000390545.2 - 0 476 CCTCCACGCCGTCCACGTACC 0.617000 504 789 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51947198 51947198 + Silent SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr6:51947198G>A ENST00000371117.3 - 4 548 c.273C>T c.(271-273)tgC>tgT p.C91C PKHD1_ENST00000340994.4_Silent_p.C91C NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 91 IPT/TIG 1; atypical. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.C91C(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACCTGGTCCGGCATGTCACCA 0.478000 5 655 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1278808 1278808 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:1278808G>A ENST00000310581.5 - 6 2291 c.2234C>T c.(2233-2235)gCc>gTc p.A745V TERT_ENST00000508104.2_Missense_Mutation_p.A745V|TERT_ENST00000296820.5_Missense_Mutation_p.A745V|TERT_ENST00000334602.6_Missense_Mutation_p.A745V NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 745 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTGGACCACGGCATACCGACG 0.602000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 5 592 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434473 179434473 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:179434473A>T ENST00000589042.1 - 326 76610 c.76386T>A c.(76384-76386)aaT>aaA p.N25462K TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N16397K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N23821K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N16589K|TTN_ENST00000342992.6_Missense_Mutation_p.N22894K|TTN_ENST00000359218.5_Missense_Mutation_p.N16522K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23821 Fibronectin type-III 85. 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) TGTTTGTTTTATTAATTCCTG 0.383000 4 102 0 0 1 0 0 NKTR 4820 broad.mit.edu 37 3 42680994 42680994 + Silent SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr3:42680994T>A ENST00000232978.8 + 13 3986 c.3798T>A c.(3796-3798)atT>atA p.I1266I RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1266 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) GAATAGAAATTAAAAGCAAAA 0.443000 6 143 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071105 9071105 + Silent SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:9071105C>T ENST00000397910.4 - 3 16544 c.16341G>A c.(16339-16341)tcG>tcA p.S5447S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5449 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 GTGTGGCTTTCGATGTCTCTG 0.493000 8 1008 0 0 1 0 0 TMCO5A 145942 broad.mit.edu 37 15 38233348 38233348 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr15:38233348A>T ENST00000558158.1 + 7 541 c.e7-1 TMCO5A_ENST00000540944.1_Splice_Site|TMCO5A_ENST00000559502.1_Splice_Site|TMCO5A_ENST00000319669.4_Splice_Site Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 TGCTTTCTTTAGGTTAAGTTA 0.488000 6 280 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54963015 54963015 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:54963015C>T ENST00000243052.3 + 4 711 c.275C>T c.(274-276)gCc>gTc p.A92V PDE1B_ENST00000538346.1_Missense_Mutation_p.A51V|PDE1B_ENST00000550620.1_Missense_Mutation_p.A72V|PDE1B_ENST00000394277.3_Intron NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 92 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 CGGTCAGATGCCGTGCCTTCG 0.632000 4 529 0 0 1 0 0 ETFDH 2110 broad.mit.edu 37 4 159618713 159618713 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr4:159618713A>T ENST00000511912.1 + 8 1166 c.834A>T c.(832-834)ttA>ttT p.L278F ETFDH_ENST00000307738.5_Missense_Mutation_p.L231F NM_004453.2 NP_004444.2 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 278 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3) 28 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) TTTTTTAGTTATGGGTTATTG 0.348000 4 105 0 0 1 0 0 C16orf72 29035 broad.mit.edu 37 16 9210552 9210552 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:9210552G>A ENST00000327827.7 + 4 1008 c.611G>A c.(610-612)aGc>aAc p.S204N NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 204 endometrium(4)|large_intestine(2)|lung(2) 8 GCTAGTATAAGCGTGCGTTCG 0.433000 6 665 0 0 1 0 0 MACROD2 140733 broad.mit.edu 37 20 15948196 15948196 + Splice_Site SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr20:15948196A>T ENST00000217246.4 + 13 1302 c.e13-1 MACROD2_ENST00000378058.3_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000310348.4_Splice_Site NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) GTTTGTTGTTAGATTTTGCAA 0.363000 6 155 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30973983 30973983 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr8:30973983C>T ENST00000298139.5 + 20 2636 c.2387C>T c.(2386-2388)gCg>gTg p.A796V NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 796 Helicase C-terminal. 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) ACATACCATGCGGGCATGAGT 0.393000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 5 267 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93837804 93837804 + Silent SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:93837804A>T ENST00000315765.9 + 16 2801 c.2793A>T c.(2791-2793)gtA>gtT p.V931V NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 931 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TGTTTTTGGTATTTAATGAGA 0.373000 10 357 0 0 1 0 0 ELL2 22936 broad.mit.edu 37 5 95242266 95242266 + Missense_Mutation SNP A A T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:95242266A>T ENST00000237853.4 - 5 1051 c.702T>A c.(700-702)aaT>aaA p.N234K ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 234 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TGTCTTTTTGATTGACACCAT 0.468000 4 183 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163044875 163044875 + Splice_Site SNP T T A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:163044875T>A ENST00000188790.4 - 20 1827 c.e20-2 FAP_ENST00000443424.1_Splice_Site NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.?(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 CCACCATACCTAAAGGAAAAA 0.383000 6 159 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115973808 115973808 + Missense_Mutation SNP T T C TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:115973808T>C ENST00000251864.2 + 16 2300 c.2147T>C c.(2146-2148)gTa>gCa p.V716A TDRD1_ENST00000369282.1_Missense_Mutation_p.V716A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V659A|TDRD1_ENST00000422662.1_Missense_Mutation_p.V320A|TDRD1_ENST00000369280.1_Missense_Mutation_p.V716A NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 716 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GACCAAACAGTAGATGTTGTG 0.363000 4 140 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 5 23 0 0 1 0 0 FAM86FP 653113 broad.mit.edu 37 12 8386947 8386947 + RNA SNP T T G TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:8386947T>G ENST00000427893.2 - 0 819 GGAGCCCGCTTGTGCTCCTGG 0.632000 6 156 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9965171 9965171 + Silent SNP C C T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:9965171C>T ENST00000264833.4 - 6 1241 c.1056G>A c.(1054-1056)ccG>ccA p.P352P OLFM2_ENST00000590841.1_Silent_p.P274P NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 352 Olfactomedin-like. extracellular region p.P352P(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 CGAGGGTGTGCGGGTCCAGCC 0.642000 4 135 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89720860 89720860 + Missense_Mutation SNP T T A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:89720860T>A ENST00000371953.3 + 8 2368 c.1011T>A c.(1009-1011)ttT>ttA p.F337L PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 337 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ACCGATACTTTTCTCCAAATT 0.338000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 4 93 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102849529 102849529 + Missense_Mutation SNP G G C TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:102849529G>C ENST00000264257.2 + 10 1368 c.1242G>C c.(1240-1242)gaG>gaC p.E414D IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D|IL1RL2_ENST00000481806.1_3'UTR NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 414 TIR. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 AGGTGTTGGAGAGACAATGTG 0.448000 47 67 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95535270 95535270 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:95535270G>T ENST00000343958.4 - 6 2954 c.2731C>A c.(2731-2733)Cca>Aca p.P911T FGD6_ENST00000549499.1_Missense_Mutation_p.P911T|FGD6_ENST00000546711.1_Missense_Mutation_p.P911T NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 911 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TCAATCACTGGTTTCCCAAGT 0.443000 28 40 3.65163e-15 4.42622e-15 1 1 0 MUC17 140453 broad.mit.edu 37 7 100686235 100686235 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:100686235G>T ENST00000306151.4 + 3 11602 c.11538G>T c.(11536-11538)ttG>ttT p.L3846F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3846 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTTTGCTCACCTCTA 0.463000 45 97 6.4771e-29 8.35755e-29 1 1 0 IGHG2 3501 broad.mit.edu 37 14 106110141 106110141 + RNA SNP G G A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:106110141G>A ENST00000390545.2 - 0 476 CCTCCACGCCGTCCACGTACC 0.617000 46 45 0 0 1 0 0 TRNT1 51095 broad.mit.edu 37 3 3170805 3170805 + Silent SNP A A T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr3:3170805A>T ENST00000251607.6 + 2 183 c.81A>T c.(79-81)ctA>ctT p.L27L TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000339437.6_Silent_p.L27L NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 27 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) AGCAGTATCTATTCACAATGA 0.488000 40 114 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 6 29 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107592482 107592482 + Missense_Mutation SNP G G C TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:107592482G>C ENST00000393561.1 - 21 3522 c.3338C>G c.(3337-3339)gCt>gGt p.A1113G LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G P07942 LAMB1_HUMAN laminin, beta 1 1089 Laminin EGF-like 12. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAGGAATGAGCAGCATTGCA 0.567000 24 26 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088696 86088696 + Silent SNP C C A rs148371022 TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:86088696C>A ENST00000330753.4 + 2 1605 c.838C>A c.(838-840)Cgg>Agg p.R280R FLRT2_ENST00000554746.1_Silent_p.R280R NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 280 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TAAGCTGGAACGGCTGGATAT 0.483000 145 49 9.15414e-77 1.22055e-76 1 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 5 33 0 0 1 0 0 HSPA12B 116835 broad.mit.edu 37 20 3726646 3726646 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr20:3726646G>T ENST00000254963.2 + 7 788 c.643G>T c.(643-645)Gcc>Tcc p.A215S HSPA12B_ENST00000542646.1_Missense_Mutation_p.A49S NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 215 ATP binding p.A215S(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 GAAACAGCCAGCCAAGCAGTT 0.642000 5 127 8.12818e-05 9.03132e-05 1 1 0 SYNJ2BP 55333 broad.mit.edu 37 14 70855304 70855304 + Silent SNP G G A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr14:70855304G>A ENST00000256366.4 - 2 165 c.84C>T c.(82-84)gtC>gtT p.V28V RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_Intron NM_018373.2 NP_060843.2 synaptojanin 2 binding protein central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) CTGTCCCACCGACGATGTTGA 0.522000 4 19 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 3 18 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883378 228883378 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:228883378C>T ENST00000392056.3 - 7 2238 c.2192G>A c.(2191-2193)gGt>gAt p.G731D SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 731 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGGACATTCACCAAGCCGTAC 0.443000 7 187 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 5 23 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92430268 92430268 + Nonsense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:92430268G>T ENST00000370389.2 + 3 982 c.58G>T c.(58-60)Gaa>Taa p.E20* BRDT_ENST00000402388.1_Nonsense_Mutation_p.E93*|BRDT_ENST00000362005.3_Nonsense_Mutation_p.E93*|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Nonsense_Mutation_p.E93* NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GAAGGCTTCAGAATGTATAGA 0.279000 3 37 1 1 1 1 0 FAM35A 54537 broad.mit.edu 37 10 88946959 88946959 + Splice_Site SNP T T G TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:88946959T>G ENST00000298786.4 + 9 2629 c.e9+2 FAM35A_ENST00000298784.1_Splice_Site Q86V20 FA35A_HUMAN family with sequence similarity 35, member A endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 GAGTGATAGGTAATATATCAG 0.368000 4 52 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70255667 70255667 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:70255667G>T ENST00000342771.4 + 19 3786 c.3465G>T c.(3463-3465)ttG>ttT p.L1155F AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1155 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGGAGCGCTTGCACATGCTCA 0.692000 17 76 2.48551e-13 2.92412e-13 1 1 0 SLC22A6 9356 broad.mit.edu 37 11 62744726 62744726 + Missense_Mutation SNP C C T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:62744726C>T ENST00000377871.3 - 9 1761 c.1495G>A c.(1495-1497)Gct>Act p.A499T SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 499 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ACAGTGACAGCGCTGGCGGCC 0.637000 51 69 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241534490 241534490 + Silent SNP C C A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:241534490C>A ENST00000391984.2 + 7 1243 c.1047C>A c.(1045-1047)ggC>ggA p.G349G CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 349 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) GGGTCAAGGGCCAGTCAGCAG 0.632000 42 40 7.63091e-17 9.53864e-17 1 1 0 ZNF12 7559 broad.mit.edu 37 7 6731556 6731556 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:6731556G>T ENST00000405858.1 - 5 1558 c.1017C>A c.(1015-1017)caC>caA p.H339Q ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|AC073343.13_ENST00000366167.2_RNA NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 339 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GCTGAATGAGGTGTAACTTCT 0.443000 27 85 0.00127121 0.00137428 1 1 0 PFKP 5214 broad.mit.edu 37 10 3172134 3172134 + Missense_Mutation SNP G G A TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:3172134G>A ENST00000381075.2 + 19 2007 c.1783G>A c.(1783-1785)Gca>Aca p.A595T PFKP_ENST00000381125.4_Missense_Mutation_p.A603T|PFKP_ENST00000381072.1_Missense_Mutation_p.A21T NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 603 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) AGCTGATGCCGCATACATTTT 0.647000 4 95 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671742 45671742 + Missense_Mutation SNP G G T TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:45671742G>T ENST00000308064.2 - 4 1402 c.732C>A c.(730-732)agC>agA p.S244R NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 244 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGAAGGTCTCGCTGCGCGAAG 0.657000 7 124 0.00198382 0.00208823 1 1 0 SFRP2 6423 broad.mit.edu 37 4 154702608 154702608 + Missense_Mutation SNP A A C TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr4:154702608A>C ENST00000274063.4 - 3 1167 c.883T>G c.(883-885)Tgc>Ggc p.C295G NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 295 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) CGGGACTAGCACTGCAGCTTG 0.617000 29 46 0 0 1 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593386 1593386 + RNA SNP A A C TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:1593386A>C ENST00000436493.2 - 0 239 CTGGCCATTCACGTGCCTCAG 0.597000 4 70 0 0 1 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13109019 13109020 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:13109019_13109020insG ENST00000376182.1 - 4 1348_1349 c.1249_1250insC c.(1249-1251)ggafs p.G417fs PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs|PRAMEF6_ENST00000376192.5_Intron Q5VXH4 PRAM6_HUMAN PRAME family member 6 417 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATAACTCTCCCGGGGGGCAGGA 0.520 8 236 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16259479 16259480 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:16259479_16259480insC ENST00000375759.3 + 11 6948_6949 c.6744_6745insC c.(6742-6747)caccccfs p.HP2248fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2248 Interaction with MSX2 (By similarity).|RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding p.A2251fs*102(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CAGATCTGCAACCCCCCGCAGG 0.554 7 310 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 11 470 --- --- --- --- KIAA1522 57648 broad.mit.edu 37 1 33233494 33233495 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:33233494_33233495insC ENST00000401073.2 + 2 412_413 c.342_343insC c.(340-345)cgccccfs p.RP114fs KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 55 S -> P (in dbSNP:rs3737994). breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCAGTGGGCGACCCCCCCACCT 0.614 10 120 --- --- --- --- SFPQ 6421 broad.mit.edu 37 1 35653663 35653664 + Frame_Shift_Ins INS - - CT TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:35653663_35653664insCT ENST00000357214.5 - 7 1823_1824 c.1725_1726insAG c.(1723-1728)gaaagafs p.R576fs NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 576 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) ATCATCTCTTCCTCTCTTCTAC 0.441 T TFE3 papillary renal cell 7 439 --- --- --- --- CSF3R 1441 broad.mit.edu 37 1 36935322 36935323 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:36935322_36935323insG ENST00000373103.1 - 11 1951_1952 c.1404_1405insC c.(1402-1407)ccgcgcfs p.R469fs CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 469 Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTGCTCGCGCTGGGGGGGCCCA 0.634 7 239 --- --- --- --- BMP8A 353500 broad.mit.edu 37 1 39988691 39988692 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:39988691_39988692insC ENST00000331593.5 + 6 1307_1308 c.961_962insC c.(961-963)cccfs p.P321fs RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA NM_181809.3 NP_861525.2 Q7Z5Y6 BMP8A_HUMAN bone morphogenetic protein 8a 321 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGGGTCATCGCCCCCCAAGGC 0.644 7 358 --- --- --- --- FAM151A 338094 broad.mit.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:55081756_55081757insG ENST00000302250.2 - 3 511_512 c.351_352insC c.(349-354)ccctatfs p.Y118fs ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 118 integral to membrane p.T118fs*43(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTGTAGATAGTGGGGGGGTGTG 0.594 20 389 --- --- --- --- FGGY 55277 broad.mit.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G rs145440779 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:59812016_59812017insG ENST00000371218.4 + 4 595_596 c.411_412insG c.(409-414)gtggggfs p.VG137fs FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 137 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGAT 0.500 21 316 --- --- --- --- OVGP1 5016 broad.mit.edu 37 1 111959046 111959047 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:111959046_111959047insC ENST00000369732.3 - 10 1109_1110 c.1054_1055insG c.(1054-1056)catfs p.H352fs OVGP1_ENST00000540696.1_3'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 352 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CCACACCATGGCCCCCCCAAAA 0.505 20 467 --- --- --- --- ANKRD35 148741 broad.mit.edu 37 1 145561840 145561841 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:145561840_145561841insG ENST00000355594.4 + 10 1615_1616 c.1528_1529insG c.(1528-1530)gggfs p.G510fs NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 510 p.R510R(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGATGCTGCCCGGGGGGCTTTG 0.629 7 275 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145585532 145585533 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:145585532_145585533insG ENST00000393045.2 + 14 1887_1888 c.1797_1798insG c.(1795-1800)ccggggfs p.PG599fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 599 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGCCCCTGGGGGGGCCTT 0.663 8 105 --- --- --- --- IGSF9 57549 broad.mit.edu 37 1 159900127 159900128 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:159900127_159900128insC ENST00000368094.1 - 15 2112_2113 c.1915_1916insG c.(1915-1917)actfs p.T639fs IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.T623fs|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 639 Fibronectin type-III 2. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGCAGGAGTACCCCCCGGGGT 0.673 7 550 --- --- --- --- TNN 63923 broad.mit.edu 37 1 175096158 175096159 + Frame_Shift_Ins INS - - C rs59588723 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:175096158_175096159insC ENST00000239462.4 + 13 3095_3096 c.2982_2983insC c.(2980-2985)acccccfs p.TP994fs NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 994 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGACCTGGACGCCCCCCTCTGC 0.505 7 318 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201046125 201046126 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:201046125_201046126insC ENST00000362061.3 - 12 1975_1976 c.1749_1750insG c.(1747-1752)ggggtafs p.V584fs CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 584 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGTCATACCTCCCCCCAAAGA 0.574 9 402 --- --- --- --- NAV1 89796 broad.mit.edu 37 1 201779175 201779176 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:201779175_201779176insC ENST00000367296.4 + 23 4923_4924 c.4503_4504insC c.(4501-4506)gaccccfs p.DP1501fs NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1501 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TGGATGCAGAGCCCCCCGAGAT 0.525 9 329 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203667345 203667346 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:203667345_203667346insC ENST00000357681.5 + 3 1377_1378 c.254_255insC c.(253-255)accfs p.T85fs ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 85 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CACAACGTGATCCCCCCCAAAA 0.480 8 186 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:207642043_207642044insC ENST00000367057.3 + 3 806_807 c.617_618insC c.(616-618)gccfs p.A206fs CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.T209fs*10(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGAGTGCTGTCCCCCCCACAT 0.396 16 293 --- --- --- --- IRF6 3664 broad.mit.edu 37 1 209974763 209974764 + Splice_Site INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:209974763_209974764insG ENST00000367021.3 - 3 170 c.e3-2 IRF6_ENST00000542854.1_Intron NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) GGCCATGATCTGGGGGGGTCAG 0.594 HNSCC(57;0.16) 7 83 --- --- --- --- PROX1 5629 broad.mit.edu 37 1 214170285 214170286 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:214170285_214170286insC ENST00000366958.4 + 2 1015_1016 c.407_408insC c.(406-408)accfs p.T136fs PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 136 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TCAAGAGACAGCCCCCCAGAGT 0.530 7 231 --- --- --- --- ACTA1 58 broad.mit.edu 37 1 229567546 229567547 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr1:229567546_229567547insC ENST00000366684.3 - 6 1013_1014 c.911_912insG c.(910-912)gacfs p.D304fs ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 304 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) ACATCGTGGTGCCCCCCGACAT 0.589 7 184 --- --- --- --- AC010880.1 0 broad.mit.edu 37 2 16576444 16576445 + RNA DEL AC AC - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:16576444_16576445delAC ENST00000427950.1 + 0 157 cacaccatagacacacacacac 0.500 3 5 --- --- --- --- KCNS3 3790 broad.mit.edu 37 2 18112337 18112338 + Frame_Shift_Ins INS - - G rs35579067 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:18112337_18112338insG ENST00000403915.1 + 3 513_514 c.62_63insG c.(61-63)gggfs p.G21fs KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 21 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCTGAATGTGGGGGGCTTTA 0.535 8 526 --- --- --- --- NRBP1 29959 broad.mit.edu 37 2 27658017 27658018 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:27658017_27658018insC ENST00000233557.3 + 8 1416_1417 c.584_585insC c.(583-585)gccfs p.A195fs NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 195 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) CACTCCTGTGACCCCCCCATCA 0.589 14 384 --- --- --- --- SLC8A1 6546 broad.mit.edu 37 2 40366704 40366705 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:40366704_40366705insG ENST00000406785.1 - 7 2462_2463 c.2273_2274insC c.(2272-2274)cacfs p.H758fs SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 794 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGTATTCAGTAGGGGGGACGAA 0.515 8 536 --- --- --- --- PAPOLG 64895 broad.mit.edu 37 2 61021134 61021135 + Frame_Shift_Ins INS - - C rs140373990 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:61021134_61021135insC ENST00000238714.3 + 19 2046_2047 c.1797_1798insC c.(1795-1800)tcccccfs p.SP599fs NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 599 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) AAACTGTATCACCCCCCACTGT 0.401 9 367 --- --- --- --- FBXO48 554251 broad.mit.edu 37 2 68691369 68691370 + Frame_Shift_Ins INS - - C rs36078393 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:68691369_68691370insC ENST00000377957.2 - 4 846_847 c.439_440insG c.(439-441)aatfs p.N147fs NM_001024680.1 NP_001019851.1 Q5FWF7 FBX48_HUMAN F-box protein 48 147 endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 TTCTAGAATTTCCCCCCATGTA 0.386 7 560 --- --- --- --- RAB11FIP5 26056 broad.mit.edu 37 2 73303155 73303156 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:73303155_73303156insG ENST00000258098.6 - 4 1963_1964 c.1723_1724insC c.(1723-1725)ggcfs p.G575fs RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 575 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding p.Q575fs*11(1) biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CTGGCCAGCCTGGGGGGCCTGG 0.599 10 1292 --- --- --- --- DCTN1 1639 broad.mit.edu 37 2 74593376 74593377 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:74593376_74593377insG ENST00000361874.3 - 23 3071_3072 c.2754_2755insC c.(2752-2757)ccgcaafs p.Q919fs DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 919 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CCTACCTTGCTGGGGGGCCGCT 0.559 9 1069 --- --- --- --- USP39 10713 broad.mit.edu 37 2 85863227 85863228 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:85863227_85863228insG ENST00000323701.6 + 7 1011_1012 c.1001_1002insG c.(1000-1002)cggfs p.R334fs USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 334 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CACTCAGCTCTGGGGGGCACAA 0.416 9 884 --- --- --- --- USP39 10713 broad.mit.edu 37 2 85866422 85866423 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:85866422_85866423insC ENST00000323701.6 + 9 1202_1203 c.1192_1193insC c.(1192-1194)cccfs p.P398fs USP39_ENST00000409766.3_Frame_Shift_Ins_p.P398fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.P295fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000459775.1_3'UTR NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 398 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CCTTCCTACTGCCCCCCTCTAC 0.505 11 603 --- --- --- --- FABP1 2168 broad.mit.edu 37 2 88425822 88425823 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:88425822_88425823insC ENST00000393750.3 - 2 143_144 c.112_113insG c.(112-114)gtcfs p.V38fs FABP1_ENST00000295834.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR P07148 FABPL_HUMAN fatty acid binding protein 1, liver 38 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 GATTTCCGACACCCCCTTGATA 0.530 7 1918 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083951 89083951 + RNA DEL A A - rs111608027 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:89083951delA ENST00000393525.3 + 0 576 CTTTTTTTTCAGTGTATTTCT 0.348 4 9 --- --- --- --- IGKV1OR2-118 339562 broad.mit.edu 37 2 90458648 90458648 + Frame_Shift_Del DEL T T - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:90458648delT ENST00000603238.1 + 2 324 c.324delT c.(322-324)tgfs p.108fs CTTATTACTGTCAACAGAGTG 0.512 8 1194 --- --- --- --- ANKRD23 200539 broad.mit.edu 37 2 97507820 97507821 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:97507820_97507821insG ENST00000318357.4 - 3 317_318 c.276_277insC c.(274-279)ccggaafs p.E93fs ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.E93fs|ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.E93fs NM_144994.7 NP_659431.5 Q86SG2 ANR23_HUMAN ankyrin repeat domain 23 93 nucleus endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1) 9 TCAGGTTTCCTGGGGGGGACTC 0.530 12 192 --- --- --- --- CKAP2L 150468 broad.mit.edu 37 2 113514753 113514755 + In_Frame_Del DEL AAC AAC - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:113514753_113514755delAAC ENST00000302450.6 - 4 271_273 c.193_195delGTT c.(193-195)del p.V65del CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR NM_152515.3 NP_689728.3 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 65 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TGACAGGCAAAACAACATGGTTG 0.360 72 217 --- --- --- --- FIGN 55137 broad.mit.edu 37 2 164467542 164467543 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:164467542_164467543insC ENST00000333129.3 - 3 1113_1114 c.799_800insG c.(799-801)accfs p.T267fs FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 267 Pro-rich. nuclear matrix ATP binding|nucleoside-triphosphatase activity p.A267fs*100(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CGGAGGCGGTGCCCCCCCAGGG 0.609 10 183 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099957 168099958 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:168099957_168099958insG ENST00000409195.1 + 9 2144_2145 c.2055_2056insG c.(2053-2058)acggggfs p.TG685fs XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 510 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGACATAACTGGGGGGGATGT 0.421 14 336 --- --- --- --- NEUROD1 4760 broad.mit.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:182542971_182542972insG ENST00000295108.3 - 2 1073_1074 c.616_617insC c.(616-618)cctfs p.P206fs CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 13 310 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:187521084_187521085insG ENST00000261023.3 + 17 1949_1950 c.1675_1676insG c.(1675-1677)gggfs p.G559fs ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 15 662 --- --- --- --- HECW2 57520 broad.mit.edu 37 2 197171262 197171263 + Frame_Shift_Ins INS - - G rs144884935 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:197171262_197171263insG ENST00000260983.2 - 13 2945_2946 c.2763_2764insC c.(2761-2766)cctgaafs p.E922fs HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 922 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AGGAACTTCACGGGGGGAGACT 0.530 8 433 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197990602 197990603 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:197990602_197990603insC ENST00000328737.2 - 5 421_422 c.345_346insG c.(343-348)gggcacfs p.H116fs ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.H116fs|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.H133fs|ANKRD44_ENST00000409919.1_Frame_Shift_Ins_p.H141fs|ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.H141fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.H116fs|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.H69fs Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 141 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) AAGGCTGTGCGCCCCCCTCGGT 0.559 7 462 --- --- --- --- ADAM23 8745 broad.mit.edu 37 2 207460860 207460861 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:207460860_207460861insC ENST00000264377.3 + 24 2661_2662 c.2333_2334insC c.(2332-2334)cccfs p.P778fs ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 778 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.K781fs*3(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGGAACCTTCACCCCCCCAAGG 0.455 8 164 --- --- --- --- NYAP2 57624 broad.mit.edu 37 2 226447071 226447072 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:226447071_226447072insC ENST00000272907.6 + 4 1351_1352 c.938_939insC c.(937-939)tccfs p.S313fs NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 313 Pro-rich. TCAGTGCCATGCCCCCCCAAGG 0.619 11 157 --- --- --- --- NDUFA10 4705 broad.mit.edu 37 2 240954220 240954221 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:240954220_240954221insG ENST00000252711.2 - 5 704_705 c.604_605insC c.(604-606)cctfs p.P202fs NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 202 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AATCACCAGGTGGGGGGGCAGG 0.535 13 368 --- --- --- --- TADA3 10474 broad.mit.edu 37 3 9831566 9831567 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:9831566_9831567insG ENST00000343450.2 - 3 835_836 c.288_289insC c.(286-291)ccaacafs p.T97fs TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000301964.2_Frame_Shift_Ins_p.T97fs|TADA3_ENST00000440161.1_Frame_Shift_Ins_p.T97fs NM_133480.1 NP_597814.1 O75528 TADA3_HUMAN transcriptional adaptor 3 97 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 TTCCCATGTTTGGGGGGAGCTC 0.540 9 312 --- --- --- --- FANCD2 2177 broad.mit.edu 37 3 10088407 10088410 + Splice_Site DEL AGTA AGTA - rs146316187 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:10088407_10088410delAGTA ENST00000287647.3 + 15 1371 c.1278_splice c.e15+1 p.426_splice FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 426 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTCATTACTTAGTAAGTGTCAGAG 0.358 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 15 98 --- --- --- --- SLC6A1 6529 broad.mit.edu 37 3 11059620 11059621 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:11059620_11059621insG ENST00000287766.4 + 4 751_752 c.330_331insG c.(328-333)atggggfs p.MG110fs SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 110 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ACACCTCCATCGGGGGGCTAGG 0.599 9 490 --- --- --- --- SLC6A1 6529 broad.mit.edu 37 3 11072861 11072862 + Splice_Site INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:11072861_11072862insG ENST00000287766.4 + 13 1744 c.e13-1 SLC6A1_ENST00000536032.1_Splice_Site NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TTCATCTTGCAGGGGGGTATTT 0.500 8 768 --- --- --- --- VILL 50853 broad.mit.edu 37 3 38043303 38043304 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:38043303_38043304insC ENST00000283713.6 + 13 1697_1698 c.1431_1432insC c.(1429-1434)gaccccfs p.DP477fs VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs|VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs O15195 VILL_HUMAN villin-like 477 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton p.H480fs*38(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGGGCAGCGAGCCCCCCCACTT 0.594 15 291 --- --- --- --- NCKIPSD 51517 broad.mit.edu 37 3 48716892 48716893 + Splice_Site INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:48716892_48716893insG ENST00000294129.2 - 9 1609 c.e9-2 NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCTGGTGGTCTGGGGGGGACAA 0.569 8 182 --- --- --- --- SLC38A3 10991 broad.mit.edu 37 3 50255143 50255144 + RNA INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:50255143_50255144insC ENST00000420502.1 + 0 879_880 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) CCTGCCCACTGCCCCCCAACTT 0.584 7 142 --- --- --- --- SFMBT1 51460 broad.mit.edu 37 3 52962211 52962212 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:52962211_52962212insG ENST00000394752.3 - 9 1425_1426 c.1043_1044insC c.(1042-1044)cccfs p.P348fs SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 348 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) GTGCACCTGGAGGGGGGCTGAT 0.530 7 583 --- --- --- --- PRKCD 5580 broad.mit.edu 37 3 53220652 53220653 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:53220652_53220653insG ENST00000394729.2 + 13 1621_1622 c.1293_1294insG c.(1291-1296)aaggggfs p.KG431fs PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.KG431fs NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 431 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) AGTTCCTCAACGGGGGGGACCT 0.604 8 915 --- --- --- --- IL17RB 55540 broad.mit.edu 37 3 53898813 53898814 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:53898813_53898814insC ENST00000288167.3 + 11 996_997 c.987_988insC c.(985-990)ctccccfs p.LP329fs NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 329 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) CCACACTACTGCCCCCCATTAA 0.406 11 775 --- --- --- --- NIT2 56954 broad.mit.edu 37 3 100073614 100073615 + Splice_Site INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:100073614_100073615insG ENST00000394140.3 + 9 774 c.e9-1 NM_020202.4 NP_064587.1 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 nitrogen compound metabolic process omega-amidase activity breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 CATCTTTTTCAGGGGGGAGGTT 0.450 10 475 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 7 2063 --- --- --- --- PDIA5 10954 broad.mit.edu 37 3 122869088 122869089 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:122869088_122869089insC ENST00000316218.7 + 14 1245_1246 c.1150_1151insC c.(1150-1152)cccfs p.P384fs 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) CAGCCCTGAGGCCCCCCCGCCC 0.604 11 345 --- --- --- --- TRH 7200 broad.mit.edu 37 3 129695642 129695643 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:129695642_129695643insG ENST00000302649.3 + 3 839_840 c.312_313insG c.(310-315)gaggggfs p.EG104fs TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 104 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 aagaggaagaagggggggCTGT 0.569 8 246 --- --- --- --- GRK7 131890 broad.mit.edu 37 3 141535707 141535708 + Frame_Shift_Ins INS - - G rs149574289 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:141535707_141535708insG ENST00000264952.2 + 4 1614_1615 c.1477_1478insG c.(1477-1479)gggfs p.G493fs NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 493 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.R493L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CTCTGAGGTTCGGGGGGTGGAA 0.460 16 1097 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 150877785 150877786 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:150877785_150877786insC ENST00000474524.1 + 7 1042_1043 c.1004_1005insC c.(1003-1005)gccfs p.A335fs MED12L_ENST00000422248.2_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 335 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCCAGCCCTGGCCCCCCCGGCC 0.584 7 145 --- --- --- --- SAMD7 344658 broad.mit.edu 37 3 169646267 169646268 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:169646267_169646268insG ENST00000428432.2 + 7 1331_1332 c.942_943insG c.(940-945)atggggfs p.MG314fs SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 314 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TGGTTACAATTGGGGGGAATCT 0.381 9 464 --- --- --- --- HTR3C 170572 broad.mit.edu 37 3 183777416 183777417 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:183777416_183777417insC ENST00000318351.1 + 7 947_948 c.913_914insC c.(913-915)cccfs p.P305fs NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 305 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TGCCAGTGGCACCCCCCTCATC 0.584 7 836 --- --- --- --- HTR3E 285242 broad.mit.edu 37 3 183823745 183823746 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr3:183823745_183823746insC ENST00000415389.2 + 7 1379_1380 c.913_914insC c.(913-915)cccfs p.P305fs HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 305 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CACCAGTGGCACCCCCCTCATC 0.540 9 681 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2661592 2661593 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:2661592_2661593insC ENST00000324666.5 + 8 1034_1035 c.683_684insC c.(682-684)gccfs p.A228fs FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 228 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GGTATCATGGACCCCCCCGTCA 0.525 9 672 --- --- --- --- LGI2 55203 broad.mit.edu 37 4 25005320 25005321 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:25005320_25005321insC ENST00000382114.4 - 8 1575_1576 c.1390_1391insG c.(1390-1392)catfs p.H464fs NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 464 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CAGGGTCATGGCCCCCCGGGAT 0.515 7 479 --- --- --- --- STIM2 57620 broad.mit.edu 37 4 27019446 27019447 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:27019446_27019447insC ENST00000382009.3 + 12 2155_2156 c.1888_1889insC c.(1888-1890)cccfs p.P630fs STIM2_ENST00000237364.5_Frame_Shift_Ins_p.P622fs|STIM2_ENST00000412829.2_Frame_Shift_Ins_p.P622fs|STIM2_ENST00000465503.1_Frame_Shift_Ins_p.P543fs|STIM2_ENST00000467087.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000467011.1_Frame_Shift_Ins_p.P535fs NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 535 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) TGCTCCACACGCCCCCCACCCG 0.619 9 596 --- --- --- --- KLF3 51274 broad.mit.edu 37 4 38691475 38691476 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:38691475_38691476insC ENST00000261438.5 + 4 975_976 c.670_671insC c.(670-672)cccfs p.P224fs KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 224 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 GAACTCAGTGTCCCCCCCGCAA 0.426 7 311 --- --- --- --- IGFBP7 3490 broad.mit.edu 37 4 57907076 57907077 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:57907076_57907077insG ENST00000295666.4 - 2 531_532 c.498_499insC c.(496-501)ccaggafs p.G167fs IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.G167fs NM_001553.2 NP_001544.1 Q16270 IBP7_HUMAN insulin-like growth factor binding protein 7 167 Ig-like C2-type. cell adhesion|negative regulation of cell proliferation|regulation of cell growth extracellular space insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|lung(3) 5 Glioma(25;0.08)|all_neural(26;0.181) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGATGTCCTTGGGGGGCGTCA 0.505 8 309 --- --- --- --- FRAS1 80144 broad.mit.edu 37 4 79238582 79238583 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:79238582_79238583insC ENST00000264895.6 + 17 2320_2321 c.1880_1881insC c.(1879-1881)accfs p.T627fs FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 627 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACAGCCTGCAGCCCCCCCAAGG 0.574 8 222 --- --- --- --- AGPAT9 84803 broad.mit.edu 37 4 84519314 84519315 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:84519314_84519315insC ENST00000395226.2 + 11 1325_1326 c.1107_1108insC c.(1105-1110)atccccfs p.IP369fs AGPAT9_ENST00000264409.4_Frame_Shift_Ins_p.IP369fs NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 369 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) TGTGGTACATGCCCCCCATGAC 0.475 7 273 --- --- --- --- HPGDS 27306 broad.mit.edu 37 4 95223320 95223321 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:95223320_95223321insC ENST00000295256.5 - 5 501_502 c.411_412insG c.(409-414)gggagafs p.R138fs NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 138 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) AGCCATTCTCTCCCCCCTAAAT 0.351 7 804 --- --- --- --- UNC5C 8633 broad.mit.edu 37 4 96140293 96140294 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:96140293_96140294insG ENST00000453304.1 - 9 1819_1820 c.1471_1472insC c.(1471-1473)agafs p.R491fs UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 491 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAGGTCATCTTGGGGGGTGACA 0.505 28 677 --- --- --- --- EGF 1950 broad.mit.edu 37 4 110920983 110920984 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:110920983_110920984insG ENST00000265171.5 + 21 3599_3600 c.3154_3155insG c.(3154-3156)gggfs p.G1052fs EGF_ENST00000509793.1_Frame_Shift_Ins_p.G1010fs|EGF_ENST00000503392.1_Frame_Shift_Ins_p.G1011fs NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 1052 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CCTGAGCCTGTGGGGGGCCCAC 0.584 9 650 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114280134 114280135 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:114280134_114280135insG ENST00000357077.4 + 38 10413_10414 c.10360_10361insG c.(10360-10362)gggfs p.G3454fs ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3421 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.T3457fs*8(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCTTCCTGCAGGGGGGGCACG 0.455 7 123 --- --- --- --- HHIP 64399 broad.mit.edu 37 4 145629422 145629423 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:145629422_145629423insC ENST00000296575.3 + 7 1915_1916 c.1260_1261insC c.(1258-1263)caccccfs p.HP420fs NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 420 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) GCACCAACCAGCCCCCCGAAGT 0.545 7 195 --- --- --- --- TLR3 7098 broad.mit.edu 37 4 186997804 186997805 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr4:186997804_186997805insG ENST00000296795.2 + 2 135_136 c.31_32insG c.(31-33)gggfs p.G11fs NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 11 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TATCTACTTTTGGGGGGGCCTT 0.446 18 343 --- --- --- --- SEMA5A 9037 broad.mit.edu 37 5 9044549 9044550 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:9044549_9044550insG ENST00000382496.5 - 22 3705_3706 c.3040_3041insC c.(3040-3042)taafs p.*1014fs CTD-2215L10.1_ENST00000506519.1_RNA NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 1014 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GCTGGTATTAAGGGGGGCAGGT 0.525 8 563 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13766238 13766239 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:13766238_13766239insG ENST00000265104.4 - 59 10051_10052 c.9947_9948insC c.(9946-9948)ccafs p.P3316fs DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3316 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGATGAGGTGAGGGGGGCGGCC 0.530 Kartagener syndrome 10 595 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31799656 31799657 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:31799656_31799657insG ENST00000438447.1 + 2 689_690 c.301_302insG c.(301-303)gggfs p.G101fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs O15018 PDZD2_HUMAN PDZ domain containing 2 101 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGAAAAGCGCAGGGGGGGCAAG 0.574 9 247 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32087802 32087803 + Frame_Shift_Ins INS - - G rs157497 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:32087802_32087803insG ENST00000438447.1 + 20 4636_4637 c.4248_4249insG c.(4246-4251)ccggggfs p.PG1416fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.PG1416fs O15018 PDZD2_HUMAN PDZ domain containing 2 1416 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACTGCTGCCCAGGGGGGAGTAG 0.594 7 358 --- --- --- --- FYB 2533 broad.mit.edu 37 5 39202090 39202091 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:39202090_39202091insC ENST00000351578.6 - 2 1162_1163 c.972_973insG c.(970-975)ggcatgfs p.M325fs FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 325 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding p.P325A(3)|p.P335A(1) endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGGCCCCATGGCCCCCCCACTG 0.540 18 208 --- --- --- --- MOCS2 4338 broad.mit.edu 37 5 52402939 52402940 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:52402939_52402940insG ENST00000361377.4 - 3 293_294 c.252_253insC c.(250-255)ccttagfs p.*85fs MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 85 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) CCTCCACTAATGGGGGGGATAA 0.426 10 215 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:71495076_71495077insC ENST00000296755.7 + 5 6192_6193 c.5894_5895insC c.(5893-5895)accfs p.T1965fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1965 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAGACCACCAGCCCCCCCGAAG 0.485 10 363 --- --- --- --- GCNT4 51301 broad.mit.edu 37 5 74324982 74324983 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:74324982_74324983insG ENST00000322348.4 - 1 1741_1742 c.880_881insC c.(880-882)taafs p.*294fs NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 294 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.H294fs*2(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) CTGAATGTTATGGGGGGGTGCT 0.366 14 172 --- --- --- --- PCSK1 5122 broad.mit.edu 37 5 95746639 95746640 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:95746639_95746640insC ENST00000311106.3 - 8 1170_1171 c.933_934insG c.(931-936)gggtcafs p.S312fs CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|PCSK1_ENST00000513085.1_Intron NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 312 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity p.R312C(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTCCCTGACGCCCCCCGTTTC 0.530 7 437 --- --- --- --- SEMA6A 57556 broad.mit.edu 37 5 115782764 115782765 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:115782764_115782765insG ENST00000343348.6 - 19 3424_3425 c.2637_2638insC c.(2635-2640)ccaagtfs p.S880fs SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 880 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGTGGAACTTTGGGGGGCAGGC 0.604 8 552 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127610310 127610311 + Frame_Shift_Ins INS - - C rs151053868 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:127610310_127610311insC ENST00000508053.1 - 66 8633_8634 c.7659_7660insG c.(7657-7662)ggttacfs p.Y2554fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs P35556 FBN2_HUMAN fibrillin 2 2554 EGF-like 43; 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) TTACAGGTAAACCCCCCCAGGG 0.421 10 314 --- --- --- --- FSTL4 23105 broad.mit.edu 37 5 132534816 132534817 + Frame_Shift_Ins INS - - C rs140495211 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:132534816_132534817insC ENST00000265342.7 - 16 2748_2749 c.2499_2500insG c.(2497-2502)ggccacfs p.H834fs CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 834 extracellular region calcium ion binding p.T834fs*>9(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACCACTGTGGTCCCCCCCTTTA 0.584 9 255 --- --- --- --- TCF7 6932 broad.mit.edu 37 5 133473764 133473765 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:133473764_133473765insC ENST00000395029.1 + 4 651_652 c.456_457insC c.(454-459)caccccfs p.HP152fs TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 152 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGCCAATCAGCCCCCCCACGG 0.574 11 213 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137803131 137803132 + Frame_Shift_Ins INS - - C rs148475837 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:137803131_137803132insC ENST00000239938.4 + 2 1265_1266 c.993_994insC c.(991-996)acccccfs p.TP331fs NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 331 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCAGCAAGACGCCCCCCCACGA 0.649 7 148 --- --- --- --- PCDHB16 57717 broad.mit.edu 37 5 140563385 140563386 + Frame_Shift_Ins INS - - A rs115003049 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:140563385_140563386insA ENST00000361016.2 + 1 2406_2407 c.1251_1252insA c.(1249-1254)taatatfs p.Y418fs NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 418 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCTGAATATAATATCACCCT 0.455 39 74 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141049341 141049342 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:141049341_141049342insC ENST00000239440.4 - 16 2351_2352 c.2286_2287insG c.(2284-2289)ggggatfs p.D763fs ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 763 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 TGCTGGATCCTCCCCCCAGCGA 0.579 16 1002 --- --- --- --- SLC6A7 6534 broad.mit.edu 37 5 149581960 149581961 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:149581960_149581961insG ENST00000230671.2 + 7 1280_1281 c.909_910insG c.(907-912)ttggggfs p.LG303fs SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 303 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GTGTGGGCTTCGGGGGGCTCCT 0.569 7 445 --- --- --- --- HRH2 3274 broad.mit.edu 37 5 175111290 175111291 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:175111290_175111291insC ENST00000231683.2 + 1 2827_2828 c.1054_1055insC c.(1054-1056)cccfs p.P352fs HRH2_ENST00000377291.2_Frame_Shift_Ins_p.P352fs NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 352 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) AGAAGTCACGGCCCCCCAGGGA 0.589 8 654 --- --- --- --- KIAA1191 57179 broad.mit.edu 37 5 175774701 175774702 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:175774701_175774702insG ENST00000298569.4 - 9 1352_1353 c.819_820insC c.(817-822)ccagatfs p.D274fs KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs NM_020444.3 NP_065177.2 Q96A73 K1191_HUMAN KIAA1191 274 protein binding endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) ATGTCCATCTTGGGGGGCTTCA 0.579 12 524 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:13206134_13206135insG ENST00000379350.1 + 7 881_882 c.752_753insG c.(751-753)gggfs p.G251fs PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 16 369 --- --- --- --- DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:24205282_24205283insC ENST00000378454.3 - 8 1271_1272 c.970_971insG c.(970-972)agcfs p.S324fs DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 34 1647 --- --- --- --- MOG 4340 broad.mit.edu 37 6 29627216 29627217 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:29627216_29627217insC ENST00000376894.4 + 2 327_328 c.209_210insC c.(208-210)cccfs p.P70fs MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 70 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane p.F73fs*29(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 GGGTGGTACCGCCCCCCCTTCT 0.569 16 425 --- --- --- --- RNF39 80352 broad.mit.edu 37 6 30040952 30040952 + Frame_Shift_Del DEL T T - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:30040952delT ENST00000244360.6 - 3 761 c.664delA c.(664-666)tgfs p.M222fs RNF39_ENST00000376751.3_Frame_Shift_Del_p.M222fs NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 222 B30.2/SPRY. cytoplasm zinc ion binding CTATGAAGCATTTTTTTGACC 0.408 8 1394 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30569333 30569334 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:30569333_30569334insG ENST00000376511.2 - 20 3367_3368 c.2815_2816insC c.(2815-2817)gccfs p.A939fs NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 939 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 TCCCTAGGGCAGGGGGGGCCCA 0.569 13 364 --- --- --- --- BAG6 7917 broad.mit.edu 37 6 31608570 31608571 + Splice_Site INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:31608570_31608571insG ENST00000404765.2 - 21 3221_3222 c.2934_splice c.e21+1 p.A978_splice BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice P46379 BAG6_HUMAN BCL2-associated athanogene 6 948 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GTCCCTTACCTGGGGGGGATCA 0.535 12 528 --- --- --- --- C6orf25 80739 broad.mit.edu 37 6 31692528 31692529 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:31692528_31692529insC ENST00000375809.3 + 5 558_559 c.547_548insC c.(547-549)cccfs p.P183fs C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TTCAGCTCTGTCCCCCCCACAT 0.579 27 647 --- --- --- --- VARS 7407 broad.mit.edu 37 6 31759454 31759455 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:31759454_31759455insG ENST00000375663.3 - 8 1472_1473 c.1032_1033insC c.(1030-1035)ccatgtfs p.C345fs VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 345 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CCTGTCACATTGGGGGGTGGGA 0.564 15 447 --- --- --- --- FKBPL 63943 broad.mit.edu 37 6 32097085 32097086 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:32097085_32097086insC ENST00000375156.3 - 2 742_743 c.472_473insG c.(472-474)gctfs p.A158fs NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 158 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity CTCTATGAGCTCCCCCCAAGTT 0.589 19 571 --- --- --- --- NOTCH4 4855 broad.mit.edu 37 6 32188294 32188295 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:32188294_32188295insC ENST00000375023.3 - 6 1184_1185 c.1046_1047insG c.(1045-1047)gacfs p.D349fs NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 349 EGF-like 8; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CACAGCTTGTGCCGCCCCAGCC 0.614 14 586 --- --- --- --- BRD2 6046 broad.mit.edu 37 6 32948228 32948229 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:32948228_32948229insC ENST00000395289.2 + 13 3962_3963 c.2361_2362insC c.(2359-2364)aaccccfs p.NP787fs BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs P25440 BRD2_HUMAN bromodomain containing 2 752 ET.|Poly-Ser.|Ser-rich. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CTACTAAAAAGCCCCCCAAGAA 0.426 8 311 --- --- --- --- PHF1 5252 broad.mit.edu 37 6 33383636 33383637 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:33383636_33383637insC ENST00000374516.3 + 15 1736_1737 c.1465_1466insC c.(1465-1467)cccfs p.P489fs PHF1_ENST00000374512.3_Frame_Shift_Ins_p.VP453fs NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 489 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A489V(1)|p.H491fs*3(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CCCTAAAAGTGCCCCCCACTCG 0.530 7 731 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33405504 33405505 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:33405504_33405505insC ENST00000418600.2 + 8 923_924 c.822_823insC c.(820-825)ctccccfs p.LP274fs SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 274 C2. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CCCGGGAGCTGCCCCCCAAGAA 0.599 7 378 --- --- --- --- MAPK14 1432 broad.mit.edu 37 6 36068005 36068006 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:36068005_36068006insC ENST00000229795.3 + 9 1170_1171 c.723_724insC c.(721-726)acccccfs p.TP241fs MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000310795.4_Intron NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 241 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 TGACAGGAACACCCCCCGCTTA 0.426 10 595 --- --- --- --- MOCS1 4337 broad.mit.edu 37 6 39874149 39874150 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:39874149_39874150insC ENST00000308559.7 - 10 1979_1980 c.1846_1847insG c.(1846-1848)cttfs p.L616fs MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.L529fs|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000340692.5_Frame_Shift_Ins_p.L632fs Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 632 Molybdenum cofactor biosynthesis protein C. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) CCGATGGAAGTCCCCCCGCTGA 0.579 7 588 --- --- --- --- UNC5CL 222643 broad.mit.edu 37 6 41002638 41002639 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:41002638_41002639insG ENST00000244565.3 - 2 263_264 c.175_176insC c.(175-177)actfs p.T59fs UNC5CL_ENST00000373164.1_Frame_Shift_Ins_p.T59fs NM_173561.2 NP_775832.2 Q8IV45 UN5CL_HUMAN unc-5 homolog C (C. elegans)-like 59 signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) ATTTTCTAGTTGGGGGGTAGGC 0.584 12 794 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45514855 45514856 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:45514855_45514856insG ENST00000371438.1 + 8 1737_1738 c.1379_1380insG c.(1378-1380)cggfs p.R460fs RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.R506fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.R460fs|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.R438fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.R424fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.R528fs|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.R446fs NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 460 Interaction with MYST4.|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.G462fs*22(1)|p.G530fs*22(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CCCATGGTGCCGGGGGGAGACC 0.545 7 280 --- --- --- --- TFAP2B 7021 broad.mit.edu 37 6 50805703 50805704 + Frame_Shift_Ins INS - - G rs34365845 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:50805703_50805704insG ENST00000263046.4 + 6 1030_1031 c.864_865insG c.(862-867)aaggggfs p.KG288fs TFAP2B_ENST00000393655.3_Frame_Shift_Ins_p.KG279fs Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 279 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AATCGAAAAATGGGGGGAGATC 0.436 7 366 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55039410 55039411 + Frame_Shift_Ins INS - - C rs76774128 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:55039410_55039411insC ENST00000370862.3 + 1 361_362 c.25_26insC c.(25-27)cccfs p.P9fs NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 9 feeding behavior integral to plasma membrane neuropeptide receptor activity p.P11fs*11(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATTGGAGGACTCCCCCCCTTGT 0.564 11 333 --- --- --- --- REV3L 5980 broad.mit.edu 37 6 111693903 111693904 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:111693903_111693904insG ENST00000435970.1 - 15 6236_6237 c.5420_5421insC c.(5419-5421)cagfs p.Q1807fs REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1885 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTCCCTACTTGGGGGGGACAT 0.431 DNA polymerases (catalytic subunits) 18 442 --- --- --- --- MARCKS 4082 broad.mit.edu 37 6 114181729 114181730 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:114181729_114181730insC ENST00000368635.4 + 2 1354_1355 c.973_974insC c.(973-975)cccfs p.P325fs NM_002356.5 NP_002347.5 P29966 MARCS_HUMAN myristoylated alanine-rich protein kinase C substrate 325 energy reserve metabolic process|regulation of insulin secretion actin cytoskeleton|plasma membrane actin filament binding|calmodulin binding breast(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198) Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322) CAGTCCAGAAGCCCCCCCAGCG 0.644 8 88 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767595 127767596 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:127767595_127767596insC ENST00000483725.3 - 5 2204_2205 c.1868_1869insG c.(1867-1869)gcafs p.A623fs SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCACTTCCTGTCCCCCCCACAC 0.401 16 431 --- --- --- --- UST 10090 broad.mit.edu 37 6 149395141 149395142 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:149395141_149395142insC ENST00000367463.4 + 8 1213_1214 c.1110_1111insC c.(1108-1113)aaccccfs p.NP370fs UST_ENST00000466695.1_3'UTR NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 370 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) ACGTCAGCAAGCCCCCCCTGAG 0.490 15 275 --- --- --- --- AKAP12 9590 broad.mit.edu 37 6 151670999 151671000 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:151670999_151671000insC ENST00000402676.2 + 4 1713_1714 c.1473_1474insC c.(1471-1476)aaccccfs p.NP491fs AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.NP393fs|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.NP386fs|AKAP12_ENST00000253332.1_Frame_Shift_Ins_p.NP491fs NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 491 Involved in PKC-binding (Probable). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) TGCTGTCCAAACCCCCCGAAGG 0.525 8 492 --- --- --- --- RMND1 55005 broad.mit.edu 37 6 151744740 151744741 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:151744740_151744741insC ENST00000367303.4 - 7 978_979 c.856_857insG c.(856-858)aatfs p.N286fs RMND1_ENST00000336451.3_Frame_Shift_Ins_p.N75fs NM_017909.2 NP_060379.2 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog (S. cerevisiae) 286 central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) TAACTTGATTTCCCCCCTGTGA 0.361 7 201 --- --- --- --- LPA 4018 broad.mit.edu 37 6 160963769 160963770 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr6:160963769_160963770insC ENST00000447678.1 - 35 5589_5590 c.5469_5470insG c.(5467-5472)gggtgtfs p.C1824fs LPA_ENST00000316300.5_Frame_Shift_Ins_p.C1824fs|LPA_ENST00000484276.1_5'UTR NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4332 Kringle 16. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.C1824G(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGGGCCACACACCCCCCTACAA 0.525 9 400 --- --- --- --- EIF3B 8662 broad.mit.edu 37 7 2404085 2404086 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:2404085_2404086insG ENST00000360876.4 + 6 1134_1135 c.1078_1079insG c.(1078-1080)gggfs p.G360fs EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 360 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CATTGCTCTATGGGGGGGAGAG 0.475 17 283 --- --- --- --- DAGLB 221955 broad.mit.edu 37 7 6474590 6474591 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:6474590_6474591insC ENST00000297056.6 - 4 649_650 c.480_481insG c.(478-483)ggaaatfs p.N161fs DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000428902.2_Frame_Shift_Ins_p.N34fs|DAGLB_ENST00000436575.1_Frame_Shift_Ins_p.N120fs|DAGLB_ENST00000421761.2_Intron NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 161 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) GGAGCCATTTTCCCCCCAAGAG 0.525 11 280 --- --- --- --- PMS2CL 441194 broad.mit.edu 37 7 6759412 6759413 + RNA INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:6759412_6759413insG ENST00000486256.1 + 0 346 NR_002217.1 GTGTGCCTCCCGGGGGGGAGGT 0.569 8 193 --- --- --- --- NUPL2 11097 broad.mit.edu 37 7 23224772 23224773 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:23224772_23224773insG ENST00000258742.5 + 2 464_465 c.205_206insG c.(205-207)gggfs p.G69fs NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 69 carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATCCACACCATGGGGGGGCAGC 0.406 7 206 --- --- --- --- DFNA5 1687 broad.mit.edu 37 7 24784270 24784271 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:24784270_24784271insC ENST00000342947.3 - 3 739_740 c.314_315insG c.(313-315)gagfs p.E105fs DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.E105fs|DFNA5_ENST00000545231.1_5'UTR NM_004403.2 NP_004394.1 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 105 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 CGCGGCTGCTGCCCCCCAGGTT 0.559 7 369 --- --- --- --- HOXA3 3200 broad.mit.edu 37 7 27148083 27148084 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:27148083_27148084insC ENST00000396352.4 - 3 981_982 c.782_783insG c.(781-783)gcafs p.A261fs HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.A261fs NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 261 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 TTGGAGACTGGCCCCCCGATGA 0.594 8 429 --- --- --- --- FKBP9 11328 broad.mit.edu 37 7 33014803 33014804 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:33014803_33014804insC ENST00000242209.4 + 3 546_547 c.377_378insC c.(376-378)accfs p.T126fs FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 126 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) GCTGGTGTGATCCCCCCCAATT 0.446 16 404 --- --- --- --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT CAT - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:73123425_73123427delCAT ENST00000222812.3 - 2 82_84 c.56_58delATG c.(55-60)gtc>g p.DV19del STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 7 821 --- --- --- --- FGL2 10875 broad.mit.edu 37 7 76826169 76826170 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:76826169_76826170insC ENST00000248598.5 - 2 778_779 c.746_747insG c.(745-747)gggfs p.G249fs CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 249 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 CTGTCCAGCCTCCCCCCATGGT 0.480 9 452 --- --- --- --- GRM3 2913 broad.mit.edu 37 7 86415681 86415682 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:86415681_86415682insC ENST00000361669.2 + 3 1672_1673 c.573_574insC c.(571-576)gtccccfs p.VP191fs GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 191 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCAGGACCGTGCCCCCCGACTT 0.564 11 515 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87081037 87081038 + Frame_Shift_Ins INS - - A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:87081037_87081038insA ENST00000265723.4 - 7 720_721 c.609_610insT c.(607-612)ttcaggfs p.R204fs ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 204 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ATGAATCCTGCAAAAAACGTGG 0.446 8 727 --- --- --- --- SAMD9L 219285 broad.mit.edu 37 7 92761060 92761061 + Frame_Shift_Ins INS - - T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:92761060_92761061insT ENST00000318238.4 - 5 5440_5441 c.4224_4225insA c.(4222-4227)aaaactfs p.T1409fs SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.T1409fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.T1409fs NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1409 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TCTCGGAGTTGTTTTTTTAGCG 0.406 9 1268 --- --- --- --- PON3 5446 broad.mit.edu 37 7 94993290 94993291 + Frame_Shift_Ins INS - - A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:94993290_94993291insA ENST00000265627.5 - 6 589_590 c.579_580insT c.(577-582)ttagatfs p.LD193fs PON3_ENST00000427422.1_Frame_Shift_Ins_p.LD193fs|PON1_ENST00000542556.1_Intron NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) AAGATCATCTCAAAAAATGACA 0.441 7 881 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97822843 97822844 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:97822843_97822844insC ENST00000297293.5 + 11 3359_3360 c.3066_3067insC c.(3064-3069)gtccccfs p.VP1022fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1022 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) AGAAACTAGTGCCCCCCGATAA 0.594 7 192 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98550874 98550875 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:98550874_98550875insC ENST00000359863.4 + 39 5736_5737 c.5527_5528insC c.(5527-5529)cccfs p.P1843fs TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P1825fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P1824fs NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1843 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.A1843T(1)|p.A1825T(1) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGTGGAGCACGCCCCCCACCAC 0.644 7 444 --- --- --- --- SPDYE3 441272 broad.mit.edu 37 7 99912173 99912174 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:99912173_99912174insC ENST00000332397.6 + 6 1185_1186 c.1001_1002insC c.(1000-1002)accfs p.T334fs SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 334 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GTAGATCCCAGCCCCCCGCGTA 0.569 34 1153 --- --- --- --- FBXO24 26261 broad.mit.edu 37 7 100187685 100187686 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:100187685_100187686insC ENST00000241071.6 + 2 447_448 c.125_126insC c.(124-126)tccfs p.S42fs FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs|PCOLCE-AS1_ENST00000442166.2_RNA NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 42 F-box. ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ATCCAGTTGTTCCCCCCAGAGC 0.569 10 659 --- --- --- --- PCOLCE 5118 broad.mit.edu 37 7 100205413 100205414 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:100205413_100205414insC ENST00000223061.5 + 8 1446_1447 c.1166_1167insC c.(1165-1167)tccfs p.S389fs NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 389 NTR. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity p.M392fs*>59(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGCAAGCAGTGCCCCCCCATGA 0.510 17 305 --- --- --- --- SLC12A9 56996 broad.mit.edu 37 7 100452359 100452360 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:100452359_100452360insG ENST00000354161.3 + 3 424_425 c.299_300insG c.(298-300)cggfs p.R100fs SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.R100fs|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.R100fs NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 100 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) GGAGCCGTGCAGGGGGGCGGAG 0.614 7 411 --- --- --- --- AP1S1 1174 broad.mit.edu 37 7 100802404 100802405 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:100802404_100802405insG ENST00000337619.5 + 4 474_475 c.356_357insG c.(355-357)aggfs p.R119fs NM_001283.3 NP_001274.1 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 subunit 119 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2) 8 Lung NSC(181;0.168)|all_lung(186;0.215) GAGTTTTTGATGGGGGGGGATG 0.564 15 265 --- --- --- --- NAT16 375607 broad.mit.edu 37 7 100817873 100817874 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:100817873_100817874insC ENST00000300303.2 - 2 453_454 c.215_216insG c.(214-216)gatfs p.D72fs NAT16_ENST00000455377.1_Frame_Shift_Ins_p.D72fs|NAT16_ENST00000443096.1_Frame_Shift_Ins_p.D72fs NM_198571.2 NP_940973.2 Q8N8M0 CG052_HUMAN N-acetyltransferase 16 (GCN5-related, putative) 72 N-acetyltransferase. N-acetyltransferase activity CGCCGTAGATGCCCCCCGAGAT 0.678 12 338 --- --- --- --- PLOD3 8985 broad.mit.edu 37 7 100856125 100856126 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:100856125_100856126insC ENST00000223127.3 - 8 1274_1275 c.876_877insG c.(874-879)ggagccfs p.A293fs NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 293 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CACCTCACCTGCCCCCCCGGGA 0.673 11 142 --- --- --- --- PUS7 54517 broad.mit.edu 37 7 105122809 105122810 + Frame_Shift_Ins INS - - T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:105122809_105122810insT ENST00000356362.2 - 8 1212_1213 c.998_999insA c.(997-999)accfs p.T333fs PUS7_ENST00000469408.1_Frame_Shift_Ins_p.T333fs NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 333 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 ATTTCAGTGGGTTTTTTTGATA 0.411 7 612 --- --- --- --- LAMB1 3912 broad.mit.edu 37 7 107572729 107572730 + Frame_Shift_Ins INS - - C rs57244800 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:107572729_107572730insC ENST00000393561.1 - 26 4537_4538 c.4353_4354insG c.(4351-4356)ggctggfs p.W1452fs LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.W1428fs|LAMB1_ENST00000474380.1_5'UTR P07942 LAMB1_HUMAN laminin, beta 1 1428 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCACAGCCAGGCCCCCCACACT 0.584 9 644 --- --- --- --- CCDC136 64753 broad.mit.edu 37 7 128457829 128457830 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:128457829_128457830insC ENST00000297788.4 + 17 3748_3749 c.3381_3382insC c.(3379-3384)aaccccfs p.NP1127fs CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1127 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CTACCCCCAATCCCCCCATCTT 0.520 22 2857 --- --- --- --- EXOC4 60412 broad.mit.edu 37 7 133682284 133682285 + Frame_Shift_Ins INS - - C rs34608222 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:133682284_133682285insC ENST00000253861.4 + 15 2275_2276 c.2246_2247insC c.(2245-2247)cccfs p.P749fs EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs|EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 749 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) AACACGGATCTCCCCCCAGTGT 0.460 14 482 --- --- --- --- SVOPL 136306 broad.mit.edu 37 7 138312995 138312996 + Frame_Shift_Ins INS - - C rs79662895 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:138312995_138312996insC ENST00000421622.1 - 7 824_825 c.616_617insG c.(616-618)ctcfs p.L206fs SVOPL_ENST00000436657.1_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000419765.3_Frame_Shift_Ins_p.L326fs|SVOPL_ENST00000288513.5_Frame_Shift_Ins_p.L174fs Q8N434 SVOPL_HUMAN SVOP-like 326 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CTCCCCTGAGTCCCCCCCAGTC 0.554 12 345 --- --- --- --- TRBV4-2 28616 broad.mit.edu 37 7 142045511 142045512 + RNA INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:142045511_142045512insC ENST00000390392.3 + 0 160 TTTGTCCCTTTCCCCCCGCAGT 0.485 10 600 --- --- --- --- TRPV5 56302 broad.mit.edu 37 7 142612493 142612494 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr7:142612493_142612494insC ENST00000265310.1 - 10 1617_1618 c.1269_1270insG c.(1267-1272)ggcattfs p.I424fs NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 424 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ACATGGAATGGCCCCCCAAGAA 0.505 17 879 --- --- --- --- MYOM2 9172 broad.mit.edu 37 8 2088682 2088683 + Frame_Shift_Ins INS - - G rs34620424 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:2088682_2088683insG ENST00000262113.4 + 33 3978_3979 c.3837_3838insG c.(3835-3840)atggggfs p.MG1279fs MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1279 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ATATGAGAATCGGGGGGAGTGA 0.446 9 541 --- --- --- --- XKR6 286046 broad.mit.edu 37 8 10755815 10755816 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:10755815_10755816insG ENST00000416569.2 - 3 1598_1599 c.1572_1573insC c.(1570-1575)ccatgtfs p.C525fs XKR6_ENST00000304437.2_Frame_Shift_Ins_p.C246fs NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 525 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GGCTCAACATCGGGGGGCAAAG 0.609 9 351 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18725321 18725322 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:18725321_18725322insC ENST00000440756.2 - 4 1598_1599 c.1496_1497insG c.(1495-1497)gggfs p.G499fs PSD3_ENST00000523619.1_Frame_Shift_Ins_p.G434fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.G499fs Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 499 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CCTGATGTCCTCCCCCTGATGT 0.495 9 1253 --- --- --- --- POMK 84197 broad.mit.edu 37 8 42958728 42958729 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:42958728_42958729insC ENST00000331373.5 + 4 292_293 c.37_38insC c.(37-39)cccfs p.P13fs NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 Q9H5K3 SG196_HUMAN 13 integral to membrane ATP binding|protein kinase activity GAGAGGCCTCGCCCCCCGAGAG 0.540 7 358 --- --- --- --- KCNB2 9312 broad.mit.edu 37 8 73480091 73480092 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:73480091_73480092insG ENST00000523207.1 + 2 710_711 c.122_123insG c.(121-123)gggfs p.G41fs NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 41 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AAGATCAATGTGGGGGGCCTCA 0.564 8 589 --- --- --- --- TP53INP1 94241 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 13 313 --- --- --- --- ASAP1 50807 broad.mit.edu 37 8 131073043 131073044 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr8:131073043_131073044insG ENST00000357668.1 - 27 3000_3001 c.2973_2974insC c.(2971-2976)ccaaccfs p.T992fs ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.T992fs Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 992 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 AGCTGTGGTTTGGGGGGCAGGT 0.574 7 346 --- --- --- --- RNF38 152006 broad.mit.edu 37 9 36353239 36353240 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr9:36353239_36353240insG ENST00000357058.3 - 7 1355_1356 c.749_750insC c.(748-750)cacfs p.H250fs RNF38_ENST00000353739.4_Frame_Shift_Ins_p.H283fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000377885.2_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000259605.6_Frame_Shift_Ins_p.H333fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.H257fs NM_194328.2 NP_919309.1 Q9H0F5 RNF38_HUMAN ring finger protein 38 333 Pro-rich. zinc ion binding breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) GAGGTAATGTTGGGGGGTGGGC 0.460 8 317 --- --- --- --- SPATA31A3 727830 broad.mit.edu 37 9 40702705 40702706 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr9:40702705_40702706insC ENST00000356699.5 + 4 391_392 c.362_363insC c.(361-363)gccfs p.A121fs SPATA31A3_ENST00000463536.1_3'UTR NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 TCCGGTCCAGACCCCCCAGGTG 0.624 7 564 --- --- --- --- SECISBP2 79048 broad.mit.edu 37 9 91956314 91956315 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr9:91956314_91956315insG ENST00000375807.3 + 10 1426_1427 c.1355_1356insG c.(1354-1356)tggfs p.W452fs SECISBP2_ENST00000534113.2_Frame_Shift_Ins_p.W384fs|SECISBP2_ENST00000339901.4_Frame_Shift_Ins_p.W379fs NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 452 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 CAGTTGGACTTGGGGGGCATGC 0.421 9 229 --- --- --- --- ANKRD19P 138649 broad.mit.edu 37 9 95649123 95649124 + RNA INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr9:95649123_95649124insC ENST00000473204.1 + 0 2259 GCAATCTAGCACCCCCCAAAAG 0.540 8 416 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109691601 109691602 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr9:109691601_109691602insG ENST00000277225.5 + 3 5697_5698 c.5408_5409insG c.(5407-5409)tggfs p.W1803fs ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs Q96JM2 ZN462_HUMAN zinc finger protein 462 1803 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GCCAGCAAGTTGGGGGGCTACT 0.550 8 500 --- --- --- --- PTGS1 5742 broad.mit.edu 37 9 125141076 125141077 + Frame_Shift_Ins INS - - C rs147795437 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr9:125141076_125141077insC ENST00000362012.2 + 5 380_381 c.375_376insC c.(373-378)agccccfs p.SP125fs PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.SP16fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.SP125fs|PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.SP100fs NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 125 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TTATCCCCAGTCCCCCCACCTA 0.535 9 234 --- --- --- --- PTGS1 5742 broad.mit.edu 37 9 125148875 125148876 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr9:125148875_125148876insC ENST00000362012.2 + 9 1165_1166 c.1160_1161insC c.(1159-1161)cccfs p.P387fs AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.P278fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.P387fs|PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.P362fs NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 387 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TACCACTGGCACCCCCTCATGC 0.540 8 705 --- --- --- --- LARP4B 23185 broad.mit.edu 37 10 910158 910159 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:910158_910159insC ENST00000316157.3 - 3 233_234 c.193_194insG c.(193-195)tccfs p.S65fs NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 65 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TAACACAGGAGCCCCCCACACT 0.520 8 351 --- --- --- --- TAF3 83860 broad.mit.edu 37 10 8006928 8006929 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:8006928_8006929insC ENST00000344293.5 + 3 1661_1662 c.1455_1456insC c.(1453-1458)atccccfs p.IP485fs NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 485 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 CTTCAAATATGCCCCCCAACTT 0.490 7 418 --- --- --- --- MLLT10 8028 broad.mit.edu 37 10 21962451 21962452 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:21962451_21962452insG ENST00000377072.3 + 11 1572_1573 c.1224_1225insG c.(1222-1227)gaggggfs p.EG408fs MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 408 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V411fs*3(1) NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GAAGCCAGGAAGGGGGGGTAAA 0.436 T """MLL, PICALM, CDK6""" AL 13 464 --- --- --- --- PARD3 56288 broad.mit.edu 37 10 34400165 34400166 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:34400165_34400166insG ENST00000374789.3 - 25 4327_4328 c.4002_4003insC c.(4000-4005)ccccccfs p.PP1334fs PARD3_ENST00000374794.3_Frame_Shift_Ins_p.PP1222fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.PP1297fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.PP1331fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.PP1288fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.PP1244fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.PP1274fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.PP1318fs NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1334 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TGAGAAGGGGAGGGGGGCACAT 0.579 10 1109 --- --- --- --- C10orf71 118461 broad.mit.edu 37 10 50530937 50530938 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:50530937_50530938insC ENST00000374144.3 + 3 635_636 c.347_348insC c.(346-348)accfs p.T116fs C10orf71_ENST00000323868.4_Frame_Shift_Ins_p.T116fs Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 116 endometrium(1) 1 CCCAAAACCAGCCCCCCACCAA 0.545 7 644 --- --- --- --- CHAT 1103 broad.mit.edu 37 10 50857606 50857607 + Frame_Shift_Ins INS - - C rs3793795 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:50857606_50857607insC ENST00000395562.2 + 11 1658_1659 c.1189_1190insC c.(1189-1191)cccfs p.P397fs CHAT_ENST00000395559.2_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000455728.2_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000351556.3_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000339797.1_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000337653.2_Frame_Shift_Ins_p.P479fs NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 479 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CGAGCTCCCCGCCCCCCGGAGG 0.609 7 135 --- --- --- --- NCOA4 8031 broad.mit.edu 37 10 51586311 51586312 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:51586311_51586312insC ENST00000452682.1 + 10 2039_2040 c.1787_1788insC c.(1786-1788)tccfs p.S596fs NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 580 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 GAACATAACTTCCCCCCAGACC 0.416 T RET papillary thyroid 8 405 --- --- --- --- SEC24C 9632 broad.mit.edu 37 10 75525559 75525560 + Splice_Site INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:75525559_75525560insC ENST00000339365.2 + 11 1530_1531 c.1366_splice c.e11-1 p.VP456_splice SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 456 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TTCCCACAGTTCCCCCCCAGTA 0.510 47 937 --- --- --- --- KAT6B 23522 broad.mit.edu 37 10 76790222 76790223 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:76790222_76790223insC ENST00000287239.4 + 18 6129_6130 c.5640_5641insC c.(5638-5643)ccccccfs p.PP1880fs KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.PP1697fs|KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.PP1588fs NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1880 Interaction with RUNX1 and RUNX2. histone H3 acetylation|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 factor binding|zinc ion binding CCATGACCCCACCCCCCAACCT 0.535 9 439 --- --- --- --- CYP2C18 1562 broad.mit.edu 37 10 96495136 96495137 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:96495136_96495137insC ENST00000285979.6 + 9 1607_1608 c.1408_1409insC c.(1408-1410)cccfs p.P470fs CYP2C18_ENST00000339022.5_Frame_Shift_Ins_p.P411fs|CYP2C19_ENST00000464755.1_Intron NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TATTGACATCACCCCCATTGCC 0.505 7 1286 --- --- --- --- TLL2 7093 broad.mit.edu 37 10 98164994 98164995 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:98164994_98164995insG ENST00000357947.3 - 10 1486_1487 c.1261_1262insC c.(1261-1263)tttfs p.F421fs TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 421 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CTTACCCAAAAGGGGGGCTTTT 0.480 8 667 --- --- --- --- PYROXD2 84795 broad.mit.edu 37 10 100152810 100152811 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:100152810_100152811insC ENST00000370575.4 - 9 863_864 c.815_816insG c.(814-816)gctfs p.A272fs PYROXD2_ENST00000483923.1_5'UTR NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 272 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 TTCCCTCCAGGCCCCCCATCAC 0.604 8 485 --- --- --- --- HPSE2 60495 broad.mit.edu 37 10 100995502 100995503 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:100995502_100995503insG ENST00000370552.3 - 1 116_117 c.57_58insC c.(55-60)cccgtgfs p.V20fs HPSE2_ENST00000370549.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000370546.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000404542.1_Frame_Shift_Ins_p.V20fs NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 20 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GCTAGGCACGCGGGGGGGCGGG 0.594 17 106 --- --- --- --- GOT1 2805 broad.mit.edu 37 10 101163284 101163285 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:101163284_101163285insG ENST00000370508.5 - 7 927_928 c.900_901insC c.(898-903)cccccafs p.PP300fs GOT1_ENST00000543866.1_Frame_Shift_Ins_p.PP279fs NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 300 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCTCCCTGGGCGGGGGGATTGG 0.584 9 473 --- --- --- --- CUTC 51076 broad.mit.edu 37 10 101499503 101499504 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:101499503_101499504insG ENST00000370476.5 + 3 299_300 c.170_171insG c.(169-171)gggfs p.G57fs CUTC_ENST00000493385.1_3'UTR NM_015960.2 NP_057044.2 Q9NTM9 CUTC_HUMAN cutC copper transporter 57 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) GGTTTATCAGAGGGGGGAACTA 0.401 9 454 --- --- --- --- CPN1 1369 broad.mit.edu 37 10 101816832 101816833 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:101816832_101816833insG ENST00000370418.3 - 6 1199_1200 c.948_949insC c.(946-951)ccaagafs p.R317fs NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 317 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) AACTCCTCTTCGGGGGGAAACT 0.470 12 1131 --- --- --- --- SEC31B 25956 broad.mit.edu 37 10 102265153 102265154 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:102265153_102265154insG ENST00000370345.3 - 10 1240_1241 c.1143_1144insC c.(1141-1146)ccaatgfs p.M382fs SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 382 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CTAATCCATTTGGGGGGTTTTT 0.490 7 763 --- --- --- --- BTRC 8945 broad.mit.edu 37 10 103310572 103310573 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:103310572_103310573insC ENST00000370187.3 + 14 1891_1892 c.1773_1774insC c.(1771-1776)gaccccfs p.DP591fs BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 591 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CCCAAGCTGAACCCCCCCGTTC 0.431 22 351 --- --- --- --- LINC00959 387723 broad.mit.edu 37 10 131905959 131905960 + RNA INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr10:131905959_131905960insG ENST00000456581.1 - 0 114 CTTTGCCTCCAGGGGGGGAAGG 0.530 8 210 --- --- --- --- SCUBE2 57758 broad.mit.edu 37 11 9048995 9048996 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:9048995_9048996insG ENST00000457346.2 - 20 2690_2691 c.2616_2617insC c.(2614-2619)ccagcgfs p.A873fs SCUBE2_ENST00000309263.3_Frame_Shift_Ins_p.A844fs|SCUBE2_ENST00000520467.1_Frame_Shift_Ins_p.A816fs|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 844 CUB. extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) ATGCGGCGCTTGGGGGGTGGGT 0.569 7 162 --- --- --- --- PLEKHA7 144100 broad.mit.edu 37 11 16838764 16838765 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:16838764_16838765insC ENST00000355661.3 - 11 1458_1459 c.1448_1449insG c.(1447-1449)gtcfs p.V483fs PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Frame_Shift_Ins_p.V483fs|PLEKHA7_ENST00000531066.1_Frame_Shift_Ins_p.V483fs Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 483 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding p.G483V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GTGGCGAGGAGCCCCCCGAGGG 0.639 7 309 --- --- --- --- PAX6 5080 broad.mit.edu 37 11 31812316 31812317 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:31812316_31812317insG ENST00000419022.1 - 13 1634_1635 c.1166_1167insC c.(1165-1167)ccafs p.P389fs PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 375 Pro/Ser/Thr-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) TCTGCATATGTGGGGGGGTGTA 0.589 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 12 165 --- --- --- --- NAT10 55226 broad.mit.edu 37 11 34154644 34154645 + Frame_Shift_Ins INS - - C rs61735311 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:34154644_34154645insC ENST00000257829.3 + 16 1895_1896 c.1689_1690insC c.(1687-1692)gtccccfs p.VP563fs NAT10_ENST00000531159.2_Frame_Shift_Ins_p.VP491fs|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 563 N-acetyltransferase. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TGCCTCCCGTGCCCCCCACCCA 0.559 7 369 --- --- --- --- APIP 51074 broad.mit.edu 37 11 34904908 34904909 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:34904908_34904909insC ENST00000395787.3 - 6 818_819 c.604_605insG c.(604-606)aacfs p.N202fs APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs NM_015957.2 NP_057041.2 Q96GX9 MTNB_HUMAN APAF1 interacting protein 202 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity kidney(2)|lung(1)|skin(1) 4 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) CTCCCATGTTTCCCCCCACACA 0.450 11 860 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46880747 46880748 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:46880747_46880748insC ENST00000378623.1 - 38 5746_5747 c.5504_5505insG c.(5503-5505)gctfs p.A1835fs LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1835 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CCCGGAGGAGGCCCCCCCGTGA 0.564 9 207 --- --- --- --- OR4S1 256148 broad.mit.edu 37 11 48328524 48328525 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:48328524_48328525insC ENST00000319988.1 + 1 750_751 c.750_751insC c.(748-753)atccccfs p.IP250fs NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TGGTTCTCATGCCCCCCATGTT 0.480 15 1081 --- --- --- --- SLC43A3 29015 broad.mit.edu 37 11 57185234 57185235 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:57185234_57185235insG ENST00000395123.2 - 8 961_962 c.657_658insC c.(655-660)ccactafs p.L220fs SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 220 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TAGCTGTAGTTGGGGGGCAGTG 0.564 8 481 --- --- --- --- ZDHHC5 25921 broad.mit.edu 37 11 57464257 57464258 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:57464257_57464258insC ENST00000287169.3 + 10 2396_2397 c.1034_1035insC c.(1033-1035)accfs p.T345fs ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 345 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 GCCAAGGACAGCCCCCCGACAC 0.515 7 222 --- --- --- --- TMX2 51075 broad.mit.edu 37 11 57505845 57505846 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:57505845_57505846insC ENST00000278422.4 + 4 396_397 c.384_385insC c.(382-387)aaccccfs p.NP128fs TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 128 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 TGACGTGCAAACCCCCCCTATA 0.421 14 581 --- --- --- --- OR4D11 219986 broad.mit.edu 37 11 59271497 59271498 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:59271497_59271498insG ENST00000313253.1 + 1 449_450 c.449_450insG c.(448-450)aggfs p.R150fs NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 GCCTCTTGGATGGGGGGCTTTG 0.550 7 620 --- --- --- --- TMEM132A 54972 broad.mit.edu 37 11 60699533 60699534 + Frame_Shift_Ins INS - - G rs61745629 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:60699533_60699534insG ENST00000005286.4 + 7 1446_1447 c.1293_1294insG c.(1291-1296)ggggggfs p.GG431fs TMEM132A_ENST00000453848.2_Frame_Shift_Ins_p.GG430fs NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 430 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CTGTGGACGGCGGGGGGGCCTT 0.644 8 184 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61093159 61093160 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:61093159_61093160insC ENST00000301764.7 - 6 1082_1083 c.685_686insG c.(685-687)catfs p.H229fs DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 229 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 AATGATGATGGCCCCCCCAAAG 0.490 Nucleotide excision repair (NER) 10 120 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61094367 61094368 + Splice_Site INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:61094367_61094368insG ENST00000301764.7 - 5 947 c.e5-2 DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CTGAGGGTCCTGGGGGGGAAAG 0.515 Nucleotide excision repair (NER) 11 318 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61178448 61178449 + Frame_Shift_Del DEL TC TC - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:61178448_61178449delTC ENST00000340437.4 - 9 1591_1592 c.1511_1512delGA c.(1510-1512)afs p.R504fs CPSF7_ENST00000394888.4_Frame_Shift_Del_p.R461fs|CPSF7_ENST00000448745.1_Frame_Shift_Del_p.R452fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.R452fs NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 461 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 TATCCCGGTGTCTCTCATGCTC 0.520 9 248 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183884 61183885 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:61183884_61183885insG ENST00000340437.4 - 6 866_867 c.786_787insC c.(784-789)ccgtgtfs p.C263fs CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 220 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GGCAGCACACTGGGGGGCTTAT 0.594 10 883 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62295353 62295353 + Frame_Shift_Del DEL A A - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:62295353delA ENST00000378024.4 - 5 6810 c.6536delT c.(6535-6537)tcfs p.F2179fs AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2179 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGGGGTCTTGAAGTGCATCTC 0.488 8 944 --- --- --- --- STX5 6811 broad.mit.edu 37 11 62598584 62598585 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:62598584_62598585insG ENST00000294179.3 - 2 284_285 c.131_132insC c.(130-132)cgtfs p.R44fs STX5_ENST00000541317.1_Intron|STX5_ENST00000377897.4_Frame_Shift_Ins_p.R44fs|STX5_ENST00000394690.1_Splice_Site NM_001244666.1|NM_003164.4 NP_001231595.1|NP_003155.2 Q13190 STX5_HUMAN syntaxin 5 44 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity p.V45fs*38(1) breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 CGAGGGTCACTGGGGGGGGCAG 0.629 2 4 --- --- --- --- RAB1B 81876 broad.mit.edu 37 11 66039887 66039888 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:66039887_66039888insG ENST00000311481.6 + 4 382_383 c.235_236insG c.(235-237)gggfs p.G79fs RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron NM_030981.2 NP_112243.1 Q9H0U4 RAB1B_HUMAN RAB1B, member RAS oncogene family 79 Switch 2 region; required for interaction with REP1/CHM. protein transport|small GTPase mediated signal transduction Golgi apparatus|membrane GTP binding|protein binding large_intestine(2)|lung(1)|ovary(1)|prostate(1) 5 CAGCTACTACCGGGGGGCTCAT 0.579 16 455 --- --- --- --- DPP3 10072 broad.mit.edu 37 11 66272154 66272155 + Frame_Shift_Ins INS - - C rs142447712 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:66272154_66272155insC ENST00000532677.1 + 17 2408_2409 c.2007_2008insC c.(2005-2010)gcccccfs p.AP669fs DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 650 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 TCACTGATGCGCCCCCCGAGTG 0.579 14 307 --- --- --- --- CCS 9973 broad.mit.edu 37 11 66366957 66366958 + Frame_Shift_Ins INS - - G rs61731811 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:66366957_66366958insG ENST00000533244.1 + 4 719_720 c.278_279insG c.(277-279)cggfs p.R93fs CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs NM_005125.1 NP_005116.1 O14618 CCS_HUMAN copper chaperone for superoxide dismutase 93 Superoxide dismutase-like. intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1) 9 GTGGCCATCCTGGGGGGGCCTG 0.644 7 114 --- --- --- --- ALDH3B2 222 broad.mit.edu 37 11 67433066 67433067 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:67433066_67433067insC ENST00000349015.3 - 7 833_834 c.395_396insG c.(394-396)gaafs p.E132fs ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 132 G -> V (in Ref. 4; BAC03897). 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) AGGGGTTCTTGCCCCCCAGCTC 0.644 10 679 --- --- --- --- NUMA1 4926 broad.mit.edu 37 11 71746964 71746965 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:71746964_71746965insC ENST00000393695.3 - 3 356_357 c.25_26insG c.(25-27)tgcfs p.C9fs NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 9 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GAGGAGTGCAGCCCCCCGGGTG 0.505 T RARA APL 7 381 --- --- --- --- ARRB1 408 broad.mit.edu 37 11 74988494 74988495 + Splice_Site INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:74988494_74988495insG ENST00000420843.2 - 9 716 c.e9-2 ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site NM_004041.4 NP_004032.2 P49407 ARRB1_HUMAN arrestin, beta 1 G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 GTAATAGATCTGGGGGGCATAA 0.550 9 699 --- --- --- --- SYTL2 54843 broad.mit.edu 37 11 85435355 85435356 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:85435355_85435356insG ENST00000359152.5 - 1 3715_3716 c.3716_3717insC c.(3715-3717)cgafs p.R1239fs SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 400 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CCCTGTCCTCTGGGGGGGTTAC 0.480 7 207 --- --- --- --- LOC643733 643733 broad.mit.edu 37 11 104778247 104778248 + RNA INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:104778247_104778248insC ENST00000532510.1 - 0 1184_1185 TTCCACACATTCCCCCCAGGAT 0.505 7 311 --- --- --- --- RDX 5962 broad.mit.edu 37 11 110104136 110104137 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:110104136_110104137insG ENST00000343115.4 - 13 1731_1732 c.1412_1413insC c.(1411-1413)cccfs p.P471fs RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 471 Glu-rich.|Poly-Pro. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) GTGGAGGTGGAGGGGGGGCAGA 0.431 10 398 --- --- --- --- NLRX1 79671 broad.mit.edu 37 11 119050610 119050611 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:119050610_119050611insG ENST00000409109.1 + 7 2467_2468 c.1880_1881insG c.(1879-1881)aggfs p.R627fs NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000469103.2_3'UTR Q86UT6 NLRX1_HUMAN NLR family member X1 627 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCCATGTTCATGGGGGGGCTTC 0.624 11 204 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123900396 123900397 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:123900396_123900397insC ENST00000431524.1 + 1 100_101 c.67_68insC c.(67-69)cccfs p.P23fs NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A23T(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGCGCTGGACGCCCCCCTCTTT 0.589 12 1129 --- --- --- --- IGSF9B 22997 broad.mit.edu 37 11 133807826 133807827 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:133807826_133807827insG ENST00000321016.8 - 4 669_670 c.439_440insC c.(439-441)gtafs p.V147fs IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 147 Ig-like 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTCGATGTACTGGGGGGGTGTT 0.574 7 180 --- --- --- --- GLB1L3 112937 broad.mit.edu 37 11 134181004 134181005 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr11:134181004_134181005insC ENST00000431683.2 + 13 1227_1228 c.1227_1228insC c.(1225-1230)taccccfs p.YP409fs NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 409 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) AGGCTGTGTATCCCCCCGTGAG 0.604 7 579 --- --- --- --- FOXM1 2305 broad.mit.edu 37 12 2968087 2968088 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:2968087_2968088insG ENST00000342628.2 - 10 2235_2236 c.2122_2123insC c.(2122-2124)tgafs p.*708fs ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.*655fs|FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 670 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CGGTGATTCAAGGGGGGGAGCA 0.579 7 136 --- --- --- --- PRMT8 56341 broad.mit.edu 37 12 3649792 3649793 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:3649792_3649793insC ENST00000382622.3 + 2 486_487 c.96_97insC c.(94-99)caccccfs p.HP32fs PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.HP23fs|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 32 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CCCCCTCCCAGCCCCCCCAGCC 0.644 8 93 --- --- --- --- IFFO1 25900 broad.mit.edu 37 12 6657973 6657974 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:6657973_6657974insC ENST00000436152.2 - 7 736_737 c.177_178insG c.(175-180)ggggaafs p.E60fs IFFO1_ENST00000356896.4_Frame_Shift_Ins_p.E367fs|IFFO1_ENST00000396840.2_Frame_Shift_Ins_p.E364fs|IFFO1_ENST00000465801.1_Frame_Shift_Ins_p.E60fs|IFFO1_ENST00000336604.4_Frame_Shift_Ins_p.E367fs Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 364 intermediate filament p.R364fs*19(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 TCCCGCTTCCGCCCCCCCATGG 0.673 8 72 --- --- --- --- CD4 920 broad.mit.edu 37 12 6924042 6924043 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:6924042_6924043insG ENST00000011653.4 + 5 749_750 c.491_492insG c.(490-492)cggfs p.R164fs CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 164 Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) AAAAACATACAGGGGGGGAAGA 0.564 19 577 --- --- --- --- GNB3 2784 broad.mit.edu 37 12 6952601 6952602 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:6952601_6952602insG ENST00000229264.3 + 7 747_748 c.342_343insG c.(340-345)tgggggfs p.WG114fs GNB3_ENST00000435982.2_Frame_Shift_Ins_p.WG114fs NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 114 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity p.G115W(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 TTGTGGCATGTGGGGGGCTGGA 0.584 7 410 --- --- --- --- ATN1 1822 broad.mit.edu 37 12 7045699 7045700 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:7045699_7045700insC ENST00000356654.4 + 5 1506_1507 c.1269_1270insC c.(1267-1272)caccccfs p.HP423fs ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 423 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 TCTCCAATCAGCCCCCCAAGTA 0.614 7 402 --- --- --- --- C1S 716 broad.mit.edu 37 12 7171652 7171653 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:7171652_7171653insC ENST00000406697.1 + 8 1101_1102 c.473_474insC c.(472-474)tccfs p.S158fs C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs P09871 C1S_HUMAN complement component 1, s subcomponent 158 EGF-like; calcium-binding. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTCTGCTCCTGCCCCCCGGAAT 0.455 7 350 --- --- --- --- C1S 716 broad.mit.edu 37 12 7177938 7177939 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:7177938_7177939insC ENST00000406697.1 + 15 2678_2679 c.2050_2051insC c.(2050-2052)cccfs p.P684fs C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs P09871 C1S_HUMAN complement component 1, s subcomponent 684 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGAAAATAGCACCCCCCGTGAG 0.490 7 500 --- --- --- --- PRB1 5542 broad.mit.edu 37 12 11506884 11506885 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:11506884_11506885insG ENST00000500254.2 - 3 189_190 c.152_153insC c.(151-153)cccfs p.P51fs PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 234 extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) CTGGAGGAGGTGGGGGGCCCTG 0.579 7 904 --- --- --- --- LRP6 4040 broad.mit.edu 37 12 12278301 12278302 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:12278301_12278302insG ENST00000261349.4 - 21 4453_4454 c.4377_4378insC c.(4375-4380)ccatgafs p.*1460fs LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.*1415fs NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1460 cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GCTCGGTCATAGGGGGGTCCAC 0.446 7 415 --- --- --- --- HEBP1 50865 broad.mit.edu 37 12 13142224 13142225 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:13142224_13142225insC ENST00000536942.1 - 2 353_354 c.203_204insG c.(202-204)gacfs p.D68fs HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs Q9NRV9 HEBP1_HUMAN heme binding protein 1 68 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TGTCATTGGTGCCCCCCGCATA 0.554 40 1666 --- --- --- --- KLHL42 57542 broad.mit.edu 37 12 27950768 27950769 + Frame_Shift_Ins INS - - G rs145908611 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:27950768_27950769insG ENST00000381271.2 + 3 1498_1499 c.1187_1188insG c.(1186-1188)gggfs p.G396fs NM_020782.1 NP_065833.1 kelch-like family member 42 ATCTACATCGTGGGGGGGTGTC 0.594 39 556 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445525 49445526 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:49445525_49445526insG ENST00000301067.7 - 10 1939_1940 c.1940_1941insC c.(1939-1941)cccfs p.P647fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATACCTCAGGTGGGGGGGACAT 0.634 16 378 --- --- --- --- NEUROD4 58158 broad.mit.edu 37 12 55421127 55421128 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:55421127_55421128insC ENST00000242994.3 + 2 1282_1283 c.904_905insC c.(904-906)cccfs p.P302fs NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 302 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TCAGGCTGGTACCCCCCGTTAT 0.465 19 3335 --- --- --- --- STAT2 6773 broad.mit.edu 37 12 56742816 56742817 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:56742816_56742817insG ENST00000314128.4 - 17 1490_1491 c.1467_1468insC c.(1465-1470)ccaggcfs p.G490fs STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 490 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CAGGGGGCCTTGGGGGGGTTGG 0.594 10 358 --- --- --- --- ZBTB39 9880 broad.mit.edu 37 12 57396635 57396636 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:57396635_57396636insG ENST00000300101.2 - 2 2151_2152 c.2066_2067insC c.(2065-2067)cgafs p.R689fs NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 689 P -> A (in dbSNP:rs3741576). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 TGGTGAAGTCAGGGGGGAGGCT 0.569 8 727 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57572241 57572242 + Frame_Shift_Ins INS - - G rs139915490 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:57572241_57572242insG ENST00000243077.3 + 27 4927_4928 c.4461_4462insG c.(4459-4464)taggggfs p.*G1487fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1487 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACGCTGTACGGGGGGGAGGT 0.589 20 424 --- --- --- --- KIF5A 3798 broad.mit.edu 37 12 57972047 57972048 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:57972047_57972048insG ENST00000455537.2 + 23 2734_2735 c.2460_2461insG c.(2458-2463)agggggfs p.RG820fs KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 820 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CCGAAGACAGTGGGGGGATTCA 0.505 11 1113 --- --- --- --- CYP27B1 1594 broad.mit.edu 37 12 58160653 58160654 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:58160653_58160654insC ENST00000228606.4 - 1 380_381 c.171_172insG c.(169-174)ggtgtcfs p.V58fs RP11-571M6.13_ENST00000546609.1_RNA NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 58 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) AGCCTCGACAGCCCCCCCTTGC 0.599 11 208 --- --- --- --- METTL21B 25895 broad.mit.edu 37 12 58174036 58174037 + Splice_Site INS - - G rs143311691 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:58174036_58174037insG ENST00000333012.5 + 4 475 c.e4-1 METTL21B_ENST00000551420.1_Splice_Site|METTL21B_ENST00000300209.8_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000548256.1_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron NM_206914.1 NP_996797.1 Q96AZ1 MT21B_HUMAN methyltransferase like 21B integral to membrane|intracellular methyltransferase activity endometrium(1)|lung(1) 2 CCTCTCTCTCAGGGGGGGATGT 0.584 9 152 --- --- --- --- MDM2 4193 broad.mit.edu 37 12 69233089 69233090 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:69233089_69233090insC ENST00000462284.1 + 11 1256_1257 c.954_955insC c.(952-957)aaccccfs p.NP318fs MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000517852.1_Intron NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 312 Necessary for interaction with USP2.|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATGAAATGAATCCCCCCCTTCC 0.426 A """sarcoma, glioma, colorectal, other""" 15 556 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78400511 78400512 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:78400511_78400512insC ENST00000397909.2 + 8 1366_1367 c.1193_1194insC c.(1192-1194)cccfs p.P398fs NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs Q8IVL0 NAV3_HUMAN neuron navigator 3 398 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTGCTTTACGCCCCCCGCAGC 0.495 HNSCC(70;0.22) 12 322 --- --- --- --- UHRF1BP1L 23074 broad.mit.edu 37 12 100451839 100451840 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:100451839_100451840insG ENST00000279907.7 - 14 3427_3428 c.3215_3216insC c.(3214-3216)cgtfs p.R1072fs UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1072 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GTGTTCTAACTGGGGGGGTCTC 0.371 9 231 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101680156 101680157 + Frame_Shift_Ins INS - - T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:101680156_101680157insT ENST00000261637.4 + 5 558_559 c.384_385insT c.(382-387)gattttfs p.DF128fs NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 128 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ACTTTCCAGAGTTTTTTTTGAC 0.396 10 1098 --- --- --- --- USP30 84749 broad.mit.edu 37 12 109495864 109495865 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:109495864_109495865insC ENST00000257548.5 + 3 420_421 c.327_328insC c.(325-330)gaccccfs p.DP109fs USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 109 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 ATCAGAAGGAGCCCCCCTCACA 0.485 8 1148 --- --- --- --- MYL2 4633 broad.mit.edu 37 12 111348950 111348951 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:111348950_111348951insG ENST00000228841.8 - 7 478_479 c.431_432insC c.(430-432)cgafs p.R144fs MYL2_ENST00000548438.1_Frame_Shift_Ins_p.R130fs NM_000432.3 NP_000423.2 P10916 MLRV_HUMAN myosin, light chain 2, regulatory, cardiac, slow 144 EF-hand 3. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 CAGTCACGTCAGGGGGGAAGGC 0.624 8 862 --- --- --- --- SLC8B1 80024 broad.mit.edu 37 12 113758305 113758306 + Splice_Site INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:113758305_113758306insG ENST00000552014.1 - 8 1042 c.e8-2 SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site Q6J4K2 NCKX6_HUMAN response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CGCCAGCGCCTGGGGGGAGGAG 0.644 15 1193 --- --- --- --- SLC8B1 80024 broad.mit.edu 37 12 113759072 113759073 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:113759072_113759073insC ENST00000552014.1 - 4 752_753 c.237_238insG c.(235-240)ggacctfs p.P80fs SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Frame_Shift_Ins_p.P80fs|SLC24A6_ENST00000202831.3_Frame_Shift_Ins_p.P80fs Q6J4K2 NCKX6_HUMAN 80 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 TAGTCCAGGTACCCCCCATCAC 0.624 10 1373 --- --- --- --- SIRT4 23409 broad.mit.edu 37 12 120750293 120750294 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr12:120750293_120750294insG ENST00000202967.4 + 3 591_592 c.532_533insG c.(532-534)gggfs p.G178fs SIRT4_ENST00000537892.1_Intron NM_012240.2 NP_036372.1 Q9Y6E7 SIRT4_HUMAN sirtuin 4 178 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACAGACTCCCCGGGGGGTGCTG 0.579 8 402 --- --- --- --- KBTBD6 89890 broad.mit.edu 37 13 41705321 41705322 + Frame_Shift_Ins INS - - C rs147771080 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr13:41705321_41705322insC ENST00000379485.1 - 1 1560_1561 c.1326_1327insG c.(1324-1329)gggagafs p.R443fs KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 443 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATAGGGTCTCGCCCCCCCAAAA 0.470 18 283 --- --- --- --- LCP1 3936 broad.mit.edu 37 13 46721051 46721052 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr13:46721051_46721052insC ENST00000398576.2 - 13 1553_1554 c.1165_1166insG c.(1165-1167)tctfs p.S389fs LCP1_ENST00000323076.2_Frame_Shift_Ins_p.S389fs P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 389 Actin-binding 2. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding p.A389fs*16(1) breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) ACCTTCAAGAGCCCCCCAGTCA 0.441 T BCL6 NHL 11 480 --- --- --- --- ATP7B 540 broad.mit.edu 37 13 52532497 52532498 + Frame_Shift_Ins INS - - G rs137853287 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr13:52532497_52532498insG ENST00000242839.4 - 8 2460_2461 c.2304_2305insC c.(2302-2307)cctgctfs p.A769fs ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000482841.1_Intron NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 769 M -> I (in WD).|M -> R (in WD).|M -> V (in WD). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ACAAAGAGCATGGGGGGCGTGT 0.520 Wilson disease 9 980 --- --- --- --- OR4N5 390437 broad.mit.edu 37 14 20612063 20612064 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:20612063_20612064insC ENST00000333629.1 + 1 169_170 c.169_170insC c.(169-171)cccfs p.P57fs NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGGGCTCACAGCCCCCCTCTAT 0.460 7 807 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20852646 20852647 + Frame_Shift_Ins INS - - C rs144584331 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:20852646_20852647insC ENST00000262715.5 - 23 3282_3283 c.3242_3243insG c.(3241-3243)ggtfs p.G1081fs TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.V1082fs*47(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGCTGCCACACCCCCCCACTC 0.584 11 274 --- --- --- --- OR10G2 26534 broad.mit.edu 37 14 22102924 22102925 + Frame_Shift_Ins INS - - G rs150140072 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:22102924_22102925insG ENST00000542433.1 - 1 171_172 c.74_75insC c.(73-75)caafs p.Q25fs NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TTCTTAGATTTGGGGGGTGAGA 0.480 7 208 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74206196 74206197 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:74206196_74206197insC ENST00000286523.5 - 2 1297_1298 c.515_516insG c.(514-516)gccfs p.A172fs ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.A172fs NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 CCAGCTGTGGGCCCCCCGCTTT 0.614 7 157 --- --- --- --- YLPM1 56252 broad.mit.edu 37 14 75248518 75248519 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:75248518_75248519insC ENST00000325680.7 + 4 1896_1897 c.1772_1773insC c.(1771-1773)cccfs p.P591fs YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs|YLPM1_ENST00000238571.3_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCACCAGTTCTCCCCCCACCTT 0.599 10 335 --- --- --- --- IGHG4 3503 broad.mit.edu 37 14 106091519 106091520 + RNA INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:106091519_106091520insG ENST00000390543.2 - 0 373_374 CCTTGGGTTTTGGGGGGAACAG 0.619 7 372 --- --- --- --- IGHV4-39 28394 broad.mit.edu 37 14 106877817 106877819 + RNA DEL ACT ACT - rs113800876 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr14:106877817_106877819delACT ENST00000390619.2 - 0 224_226 CCCAGTAGTAACTACTACTGCTG 0.596 36 96 --- --- --- --- OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:22369023_22369024insG ENST00000332663.2 + 1 546_547 c.448_449insG c.(448-450)gggfs p.G150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R150M(2)|p.R150W(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTTC 0.500 40 1075 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 34015000 34015001 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:34015000_34015001insG ENST00000389232.4 + 44 6774_6775 c.6704_6705insG c.(6703-6705)gggfs p.G2235fs RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2235 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGCGGGGTGAGGGGGGAAACG 0.584 11 578 --- --- --- --- C15orf52 388115 broad.mit.edu 37 15 40630771 40630772 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:40630771_40630772insG ENST00000559313.1 - 5 624_625 c.609_610insC c.(607-612)cccgcafs p.A204fs NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 204 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GCCACCTGCGTGGGGGGGCTTC 0.584 OREG0023060 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 465 --- --- --- --- DUOX1 53905 broad.mit.edu 37 15 45457005 45457006 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:45457005_45457006insC ENST00000321429.4 + 35 4969_4970 c.4562_4563insC c.(4561-4563)gccfs p.A1521fs CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 1521 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity p.G1524fs*26(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TTTAGCTGTGGCCCCCCTGGCA 0.545 7 970 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64962624 64962625 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:64962624_64962625insC ENST00000326648.3 + 3 1181_1182 c.1053_1054insC c.(1051-1056)gcccccfs p.AP351fs ZNF609_ENST00000559364.1_3'UTR NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 351 nucleus zinc ion binding 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 ATGATTGGGCACCCCCAAGGTA 0.416 7 394 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967993 64967994 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:64967993_64967994insC ENST00000326648.3 + 4 3068_3069 c.2940_2941insC c.(2938-2943)gtccccfs p.VP980fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 980 nucleus zinc ion binding 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 ATGCCTATGTACCCCCCTATGG 0.550 23 1485 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64973566 64973567 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:64973566_64973567insC ENST00000326648.3 + 8 4349_4350 c.4221_4222insC c.(4219-4224)ccccccfs p.PP1407fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1407 nucleus zinc ion binding 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 CACTCTACCCACCCCCCAGGAG 0.470 OREG0023182 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 904 --- --- --- --- ANKRD34C-AS1 729911 broad.mit.edu 37 15 79529452 79529453 + RNA INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:79529452_79529453insG ENST00000560533.1 - 0 349 ATAATGAGGATGGGGGGATGAC 0.490 8 575 --- --- --- --- IGF1R 3480 broad.mit.edu 37 15 99251108 99251109 + Frame_Shift_Ins INS - - G rs121912426 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:99251108_99251109insG ENST00000268035.6 + 2 1023_1024 c.412_413insG c.(412-414)gggfs p.G138fs IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 138 R -> Q (in IGF1RES; has decreased IGF1R function). anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GAACATTACTCGGGGGGCCATC 0.510 7 395 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 4 3 --- --- --- --- OR4F15 390649 broad.mit.edu 37 15 102358558 102358559 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr15:102358558_102358559insC ENST00000332238.4 + 1 193_194 c.169_170insC c.(169-171)cccfs p.P57fs NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TCATCTGCACTCCCCCATGTAT 0.401 7 1872 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2807545 2807546 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:2807545_2807546insG ENST00000301740.8 + 3 864_865 c.315_316insG c.(313-318)ccggggfs p.PG105fs NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 105 Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 ATGTGAACCCTGGGGGCAAGGA 0.559 8 643 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2815060 2815061 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:2815060_2815061insC ENST00000301740.8 + 11 5080_5081 c.4531_4532insC c.(4531-4533)cccfs p.P1511fs NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1511 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CAAGTGTCTTACCCCCCAGAGA 0.525 9 1114 --- --- --- --- NOMO1 23420 broad.mit.edu 37 16 14980694 14980695 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:14980694_14980695insC ENST00000287667.7 + 28 3470_3471 c.3299_3300insC c.(3298-3300)tccfs p.S1100fs NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1100 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TTCTTCCATTTCCCCCCACTGC 0.475 7 938 --- --- --- --- ABCC1 4363 broad.mit.edu 37 16 16142119 16142120 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:16142119_16142120insC ENST00000399408.2 + 10 1514_1515 c.1339_1340insC c.(1339-1341)cccfs p.P447fs ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000399410.3_Frame_Shift_Ins_p.P447fs P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 447 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GATCTGGTCAGCCCCCCTGCAA 0.545 7 439 --- --- --- --- ACSM2B 348158 broad.mit.edu 37 16 20556547 20556548 + Frame_Shift_Ins INS - - G rs146499503 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:20556547_20556548insG ENST00000329697.6 - 10 1380_1381 c.1212_1213insC c.(1210-1215)ccgcacfs p.H405fs ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 405 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCTTCTGTGCCGGGGGGCAGGA 0.515 16 388 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 20966297 20966298 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:20966297_20966298insG ENST00000261383.3 - 55 10907_10908 c.10908_10909insC c.(10906-10911)ccaaggfs p.R3637fs DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3637 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CGGAGCCCTTTGGGGGGCTCAT 0.510 8 362 --- --- --- --- POLR3E 55718 broad.mit.edu 37 16 22339833 22339834 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:22339833_22339834insC ENST00000299853.5 + 19 2036_2037 c.1869_1870insC c.(1867-1872)ttccccfs p.FP623fs POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 623 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) TTGGTCAGTTTCCCCCCCAGAC 0.574 7 218 --- --- --- --- ERN2 10595 broad.mit.edu 37 16 23718095 23718096 + Frame_Shift_Ins INS - - G rs143761786 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:23718095_23718096insG ENST00000256797.4 - 6 778_779 c.610_611insC c.(610-612)cctfs p.P204fs ERN2_ENST00000457008.2_Frame_Shift_Ins_p.P156fs NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 156 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AATGTAGAGGCGGGGGGTGGAG 0.604 7 541 --- --- --- --- TBX6 6911 broad.mit.edu 37 16 30100077 30100078 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:30100077_30100078insC ENST00000553607.1 - 4 1397_1398 c.704_705insG c.(703-705)gatfs p.D235fs TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs O95947 TBX6_HUMAN T-box 6 235 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 AGGAGGCCATGCCCCCCCAGTG 0.629 24 273 --- --- --- --- NKD1 85407 broad.mit.edu 37 16 50667134 50667135 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:50667134_50667135insC ENST00000268459.3 + 10 1079_1080 c.855_856insC c.(853-858)ctccccfs p.LP285fs NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 285 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) AGTCAGAACTGCCCCCCCGCAC 0.599 9 129 --- --- --- --- MT4 84560 broad.mit.edu 37 16 56602768 56602769 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:56602768_56602769insC ENST00000219162.3 + 3 193_194 c.113_114insC c.(112-114)tccfs p.S38fs NM_032935.2 NP_116324.1 P47944 MT4_HUMAN metallothionein 4 38 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 TGTCCCTGCTGCCCCCCGGGCT 0.599 23 1227 --- --- --- --- AC012322.1 0 broad.mit.edu 37 16 64294575 64294575 + RNA DEL A A - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:64294575delA ENST00000561657.1 - 0 584 ACACACCGTTAAAAAAAAAAC 0.493 15 497 --- --- --- --- KCTD19 146212 broad.mit.edu 37 16 67325657 67325658 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:67325657_67325658insG ENST00000304372.5 - 13 2356_2357 c.2301_2302insC c.(2299-2304)cctggtfs p.G768fs NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 768 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CTGCCCACCACGGGGGGGTGAG 0.574 8 180 --- --- --- --- FAM65A 79567 broad.mit.edu 37 16 67572614 67572615 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:67572614_67572615insC ENST00000540839.3 + 4 424_425 c.204_205insC c.(202-207)aaccccfs p.NP68fs FAM65A_ENST00000422602.2_Frame_Shift_Ins_p.NP68fs|FAM65A_ENST00000379312.3_Frame_Shift_Ins_p.NP52fs|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000042381.4_Frame_Shift_Ins_p.NP48fs|FAM65A_ENST00000428437.2_Frame_Shift_Ins_p.NP62fs Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 52 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CCCCACGGAAGCCCCCCGCGCT 0.663 7 204 --- --- --- --- MARVELD3 91862 broad.mit.edu 37 16 71668195 71668196 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:71668195_71668196insG ENST00000268485.3 + 3 739_740 c.695_696insG c.(694-696)tggfs p.W232fs MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_Frame_Shift_Ins_p.LG45fs NM_052858.3 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 232 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) ATCACCAGCTTGGGGGGCATTT 0.559 8 299 --- --- --- --- GLG1 2734 broad.mit.edu 37 16 74525008 74525009 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:74525008_74525009insC ENST00000422840.2 - 8 1338_1339 c.1339_1340insG c.(1339-1341)gatfs p.D447fs GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 447 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 GTGTTCAATCTCCCCCCGACAG 0.515 7 344 --- --- --- --- MLKL 197259 broad.mit.edu 37 16 74725194 74725195 + Frame_Shift_Ins INS - - T rs56247416 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr16:74725194_74725195insT ENST00000308807.7 - 4 1165_1166 c.702_703insA c.(700-705)aatccafs p.NP234fs MLKL_ENST00000306247.7_Intron NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 234 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 CCAGCCTGGAGTTTTTTGAATA 0.436 9 778 --- --- --- --- PAFAH1B1 5048 broad.mit.edu 37 17 2583499 2583500 + Frame_Shift_Ins INS - - G rs113994201 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:2583499_2583500insG ENST00000397195.5 + 10 1495_1496 c.1044_1045insG c.(1042-1047)tcggggfs p.SG348fs PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 348 Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 TGTTCCATTCTGGGGGGAAGTT 0.401 8 732 --- --- --- --- OR1A2 26189 broad.mit.edu 37 17 3100900 3100901 + Frame_Shift_Ins INS - - T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:3100900_3100901insT ENST00000381951.1 + 1 88_89 c.88_89insT c.(88-90)tttfs p.F30fs NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 CTTCTTTGTGATTTTTTTGTGC 0.401 7 650 --- --- --- --- ATP2A3 489 broad.mit.edu 37 17 3844781 3844782 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:3844781_3844782insG ENST00000309890.7 - 13 1862_1863 c.1712_1713insC c.(1711-1713)cagfs p.Q571fs ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.Q571fs NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 571 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CCTCCTTCCTTGGGGGCGCGTC 0.649 9 467 --- --- --- --- CAMTA2 23125 broad.mit.edu 37 17 4884523 4884524 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:4884523_4884524insC ENST00000361571.5 - 7 1104_1105 c.693_694insG c.(691-696)ggttggfs p.W232fs CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 233 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AACTTACCAAGCCCCCCACTGC 0.550 OREG0024111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 982 --- --- --- --- ALOX12 239 broad.mit.edu 37 17 6903739 6903740 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:6903739_6903740insC ENST00000251535.6 + 7 945_946 c.892_893insC c.(892-894)cccfs p.P298fs RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 298 Lipoxygenase. A -> T. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 ATACCTGGCTGCCCCCCTCGTT 0.554 12 1418 --- --- --- --- POLR2A 5430 broad.mit.edu 37 17 7402718 7402719 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:7402718_7402719insC ENST00000322644.6 + 10 1978_1979 c.1579_1580insC c.(1579-1581)cccfs p.P527fs POLR2A_ENST00000572844.1_Frame_Shift_Ins_p.P527fs NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 527 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) CATGATTGTCACCCCCCAGAGC 0.564 8 212 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7798764 7798765 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:7798764_7798765insC ENST00000380358.4 + 10 1789_1790 c.1788_1789insC c.(1786-1791)ccccccfs p.PP596fs CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 537 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CAGATGTCCCACCCCCCCGTCC 0.574 48 683 --- --- --- --- SLC47A1 55244 broad.mit.edu 37 17 19459097 19459098 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:19459097_19459098insC ENST00000571335.1 + 7 563_564 c.143_144insC c.(142-144)gccfs p.A48fs SLC47A1_ENST00000395585.1_Intron|SLC47A1_ENST00000457293.1_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Intron|SLC47A1_ENST00000270570.4_Intron Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 0 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) AATGTGTGTGTCCCCCCCACAG 0.599 8 153 --- --- --- --- SLC13A2 9058 broad.mit.edu 37 17 26817513 26817514 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:26817513_26817514insG ENST00000444914.3 + 3 840_841 c.420_421insG c.(418-423)ttggggfs p.LG140fs SLC13A2_ENST00000537681.1_Frame_Shift_Ins_p.LG20fs|SLC13A2_ENST00000314669.5_Frame_Shift_Ins_p.LG91fs|SLC13A2_ENST00000545060.1_Frame_Shift_Ins_p.LG48fs NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 91 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TCCTGTTCTTCGGGGGGCTGCT 0.639 7 324 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27959374 27959375 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:27959374_27959375insG ENST00000269033.3 - 15 2907_2908 c.2756_2757insC c.(2755-2757)cgafs p.R919fs SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 919 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGAATGTTCTGGGGGGGCTTC 0.480 26 862 --- --- --- --- ASIC2 40 broad.mit.edu 37 17 31439004 31439005 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:31439004_31439005insC ENST00000225823.2 - 2 1661_1662 c.789_790insG c.(787-792)ggcaggfs p.R264fs RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 213 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCGTTGCCTGTCCCCCCCTTGA 0.550 10 348 --- --- --- --- TAF15 8148 broad.mit.edu 37 17 34171885 34171886 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:34171885_34171886insG ENST00000588240.1 + 15 1697_1698 c.1582_1583insG c.(1582-1584)gggfs p.G528fs TAF15_ENST00000592237.1_Splice_Site_p.TG332_splice|TAF15_ENST00000311979.3_Frame_Shift_Ins_p.G525fs NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 528 21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) agACAGAAGCCGGGGGGGCTAT 0.609 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 7 118 --- --- --- --- HNF1B 6928 broad.mit.edu 37 17 36059173 36059174 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:36059173_36059174insG ENST00000225893.4 - 8 1922_1923 c.1561_1562insC c.(1561-1563)gtafs p.V521fs HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 521 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) GTGGGAATACTGGGGGGGTTCC 0.515 9 224 --- --- --- --- RAB5C 5878 broad.mit.edu 37 17 40280704 40280705 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:40280704_40280705insC ENST00000393860.3 - 4 596_597 c.280_281insG c.(280-282)ccafs p.P94fs RAB5C_ENST00000547517.1_Frame_Shift_Ins_p.P127fs|CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.P94fs|RAB5C_ENST00000346213.4_Frame_Shift_Ins_p.P94fs NM_201434.2 NP_958842.1 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family 94 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) GGCAGCCTGGGCCCCCCGATAG 0.530 8 478 --- --- --- --- KCNH4 23415 broad.mit.edu 37 17 40328258 40328259 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:40328258_40328259insC ENST00000264661.3 - 5 974_975 c.642_643insG c.(640-645)ggctcgfs p.S215fs KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 215 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGGCAGCGAGACCCCCCCACGG 0.604 16 581 --- --- --- --- DHX8 1659 broad.mit.edu 37 17 41570235 41570236 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:41570235_41570236insC ENST00000262415.3 + 6 762_763 c.690_691insC c.(688-693)agccccfs p.SP230fs DHX8_ENST00000540306.1_Frame_Shift_Ins_p.SP230fs NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 230 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GGAGTCAGAGTCCCCCCAAAGA 0.569 8 380 --- --- --- --- OSBPL7 114881 broad.mit.edu 37 17 45886342 45886343 + Frame_Shift_Ins INS - - G rs143462261 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:45886342_45886343insG ENST00000007414.3 - 21 2375_2376 c.2184_2185insC c.(2182-2187)ccaccafs p.P729fs OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 729 lipid transport lipid binding p.D729fs*3(1) autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 CGCTCATGGTCGGGGGGCATTG 0.619 12 590 --- --- --- --- SP2 6668 broad.mit.edu 37 17 45994141 45994142 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:45994141_45994142insC ENST00000376741.4 + 3 841_842 c.704_705insC c.(703-705)accfs p.T235fs AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 235 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 CTCACTGAAAGCCCCCCAACCC 0.609 8 392 --- --- --- --- SP2 6668 broad.mit.edu 37 17 45994349 45994350 + Frame_Shift_Ins INS - - C rs142857959 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:45994349_45994350insC ENST00000376741.4 + 3 1049_1050 c.912_913insC c.(910-915)gtccccfs p.VP304fs AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 304 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 TCCAGGTGGTGCCCCCCAAGGC 0.649 7 260 --- --- --- --- CA10 56934 broad.mit.edu 37 17 50008356 50008357 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:50008356_50008357insC ENST00000451037.2 - 3 1212_1213 c.272_273insG c.(271-273)gagfs p.E91fs CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 91 brain development p.G91V(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TTACCTTCCTGCCCCCCGTGTT 0.490 18 1235 --- --- --- --- MTMR4 9110 broad.mit.edu 37 17 56590245 56590246 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:56590245_56590246insG ENST00000323456.5 - 3 184_185 c.60_61insC c.(58-63)ccaggafs p.G21fs MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 21 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity p.K21fs*20(1) breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACTAGTTCCTTGGGGGGGAACA 0.569 7 269 --- --- --- --- RGS9 8787 broad.mit.edu 37 17 63221351 63221352 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:63221351_63221352insC ENST00000449996.3 + 18 1702_1703 c.1630_1631insC c.(1630-1632)cccfs p.P544fs RGS9_ENST00000262406.9_Frame_Shift_Ins_p.P547fs|RGS9_ENST00000443584.3_Frame_Shift_Ins_p.P544fs NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 547 GSMAPR -> WSGANP (in Ref. 7; AAC25430). intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CGGGTCCATGGCCCCCCGTGGG 0.693 8 345 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67083603 67083604 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:67083603_67083604insG ENST00000284425.2 - 29 3883_3884 c.3709_3710insC c.(3709-3711)aagfs p.K1237fs ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1237 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATCTCTACTTTGGGGGGAAATT 0.376 14 958 --- --- --- --- C17orf70 80233 broad.mit.edu 37 17 79517945 79517946 + Frame_Shift_Ins INS - - G rs149308791 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr17:79517945_79517946insG ENST00000537152.1 - 3 646_647 c.121_122insC c.(121-123)cttfs p.L41fs C17orf70_ENST00000327787.8_Frame_Shift_Ins_p.L192fs NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 192 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) TGGAAGGAAGTGGGGGGCTGCA 0.693 2 4 --- --- --- --- CEP192 55125 broad.mit.edu 37 18 13113612 13113613 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr18:13113612_13113613insG ENST00000506447.1 + 41 7155_7156 c.7075_7076insG c.(7075-7077)gggfs p.G2359fs CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Frame_Shift_Ins_p.G1763fs|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.G1884fs NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1954 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCCCAGAGGTAGGGGGGATTAT 0.426 8 344 --- --- --- --- ZNF521 25925 broad.mit.edu 37 18 22804477 22804478 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr18:22804477_22804478insC ENST00000361524.3 - 4 3552_3553 c.3404_3405insG c.(3403-3405)gctfs p.A1135fs ZNF521_ENST00000538137.2_Frame_Shift_Ins_p.A1135fs|ZNF521_ENST00000584787.1_Frame_Shift_Ins_p.A915fs NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1135 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GTGTCTTCAGTCCCCCCACCTT 0.554 T PAX5 ALL 7 220 --- --- --- --- FBN3 84467 broad.mit.edu 37 19 8196624 8196625 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:8196624_8196625insC ENST00000600128.1 - 15 2217_2218 c.1803_1804insG c.(1801-1806)ggtggcfs p.G602fs FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G602fs|FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G602fs Q75N90 FBN3_HUMAN fibrillin 3 602 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCTACCGCCAGCCCCCCCAGGC 0.678 9 101 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:9064309_9064310insG ENST00000397910.4 - 3 23339_23340 c.23136_23137insC c.(23134-23139)ccctccfs p.S7713fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7715 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 GGAAGGGGAGAGGGGGGGATAT 0.530 8 472 --- --- --- --- C3P1 388503 broad.mit.edu 37 19 10160752 10160753 + RNA INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:10160752_10160753insC ENST00000495140.1 + 0 1411 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 TAGTGGTCGTGCCCCCCACCTC 0.599 8 846 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10291083 10291084 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:10291083_10291084insG ENST00000340748.4 - 4 622_623 c.387_388insC c.(385-390)ccaaccfs p.T130fs DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 130 Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GAAAGGGGTTTGGGGGGGCTGT 0.495 10 176 --- --- --- --- EPOR 2057 broad.mit.edu 37 19 11488680 11488681 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:11488680_11488681insG ENST00000222139.6 - 8 1610_1611 c.1506_1507insC c.(1504-1509)ccgctafs p.L503fs EPOR_ENST00000592375.2_3'UTR NM_000121.3 NP_000112.1 P19235 EPOR_HUMAN erythropoietin receptor 503 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GCCACATAGCTGGGGGGCAGAG 0.569 OREG0025254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 1315 --- --- --- --- ELAVL3 1995 broad.mit.edu 37 19 11565611 11565612 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:11565611_11565612insC ENST00000359227.3 - 7 1257_1258 c.833_834insG c.(832-834)ggcfs p.G278fs ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.G271fs NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 278 cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 cgcccgccgcgccccccgACAG 0.678 7 220 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12155624 12155625 + Frame_Shift_Ins INS - - T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:12155624_12155625insT ENST00000602107.1 - 5 731_732 c.732_733insA c.(730-735)aacctafs p.NL244fs CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CATTCATAGGGTTTTTTTGCAG 0.396 18 758 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12155708 12155709 + Frame_Shift_Ins INS - - T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:12155708_12155709insT ENST00000602107.1 - 5 647_648 c.648_649insA c.(646-651)aacctafs p.NL216fs CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CATTCATAGGGTTTTTTTGCAG 0.411 11 712 --- --- --- --- GCDH 2639 broad.mit.edu 37 19 13008600 13008601 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:13008600_13008601insG ENST00000222214.5 + 11 1377_1378 c.1166_1167insG c.(1165-1167)cggfs p.R389fs GCDH_ENST00000457854.1_Frame_Shift_Ins_p.R389fs|GCDH_ENST00000422947.2_Frame_Shift_Ins_p.R345fs|GCDH_ENST00000591470.1_Frame_Shift_Ins_p.R389fs Q92947 GCDH_HUMAN glutaryl-CoA dehydrogenase 389 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 CGAGACATGCTGGGGGGGAATG 0.599 8 188 --- --- --- --- EMR3 84658 broad.mit.edu 37 19 14774330 14774331 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:14774330_14774331insG ENST00000253673.5 - 3 198_199 c.98_99insC c.(97-99)caafs p.Q33fs EMR3_ENST00000443157.2_Frame_Shift_Ins_p.Q33fs|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.Q33fs NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 33 EGF-like 1. neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 AGGAAGCATTTGGGGGGCACTT 0.485 10 291 --- --- --- --- CIB3 117286 broad.mit.edu 37 19 16275654 16275655 + Frame_Shift_Ins INS - - T rs6512087 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:16275654_16275655insT ENST00000269878.4 - 5 465_466 c.416_417insA c.(415-417)gctfs p.A139fs CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs|CIB3_ENST00000541493.1_5'UTR NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 139 G -> E (in dbSNP:rs6512087). calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 CGGCACTCAGCCCCCCCCGCGT 0.569 10 395 --- --- --- --- ZNF93 81931 broad.mit.edu 37 19 20027414 20027415 + Frame_Shift_Ins INS - - A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:20027414_20027415insA ENST00000343769.5 + 3 204_205 c.176_177insA c.(175-177)gaafs p.E59fs ZNF93_ENST00000592160.1_Frame_Shift_Ins_p.E59fs|ZNF93_ENST00000591366.1_Frame_Shift_Ins_p.E59fs|AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 59 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 CTGGAGCAAGGAAAAAAACCTT 0.406 8 331 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769141 31769142 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:31769141_31769142insC ENST00000240587.4 - 2 1884_1885 c.1557_1558insG c.(1555-1560)ggttgafs p.*520fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 520 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGGATATCAAGCCCCCCCTTGG 0.500 21 432 --- --- --- --- GPI 2821 broad.mit.edu 37 19 34887281 34887282 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:34887281_34887282insG ENST00000415930.3 + 13 1341_1342 c.1171_1172insG c.(1171-1173)gggfs p.G391fs GPI_ENST00000356487.5_Frame_Shift_Ins_p.G380fs|GPI_ENST00000586425.1_Frame_Shift_Ins_p.G380fs NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 380 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CCCCATTGTGTGGGGGGAGCCA 0.564 7 143 --- --- --- --- DYRK1B 9149 broad.mit.edu 37 19 40320998 40320999 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:40320998_40320999insG ENST00000601972.1 - 4 618_619 c.388_389insC c.(388-390)ccafs p.P130fs DYRK1B_ENST00000593685.1_Intron|DYRK1B_ENST00000323039.5_Intron|DYRK1B_ENST00000597639.1_Intron|DYRK1B_ENST00000430012.2_Intron|DYRK1B_ENST00000348817.3_Intron Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 578 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) ATCAGGGTGGTGGGGGGTGTCC 0.584 7 371 --- --- --- --- PSMC4 5704 broad.mit.edu 37 19 40480653 40480654 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:40480653_40480654insC ENST00000157812.2 + 6 789_790 c.591_592insC c.(589-594)gaccccfs p.DP197fs PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.DP166fs NM_006503.3|NM_153001.2 NP_006494.1|NP_694546.1 P43686 PRS6B_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 4 197 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCGGCATCGATCCCCCCCGAGG 0.614 7 172 --- --- --- --- CCDC97 90324 broad.mit.edu 37 19 41825517 41825518 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:41825517_41825518insC ENST00000269967.3 + 3 663_664 c.541_542insC c.(541-543)cccfs p.P181fs NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 181 biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 GCGGTTCCGGGCCCCCCTGCTA 0.644 10 1354 --- --- --- --- POU2F2 5452 broad.mit.edu 37 19 42621520 42621521 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:42621520_42621521insG ENST00000560398.1 - 5 257_258 c.250_251insC c.(250-252)gatfs p.D84fs POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site P09086 PO2F2_HUMAN POU class 2 homeobox 2 62 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) AGCCTTGATCTGGGGGGGAGAG 0.634 27 368 --- --- --- --- MEGF8 1954 broad.mit.edu 37 19 42866542 42866543 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:42866542_42866543insC ENST00000334370.4 + 33 6285_6286 c.5650_5651insC c.(5650-5652)cccfs p.P1884fs MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.P1951fs NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1951 PSI 4. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CCAGGCGTCCACCCCCCGCTGT 0.614 13 395 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43439519 43439520 + RNA INS - - C rs59911953 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:43439519_43439520insC ENST00000406070.2 - 0 527 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) AATGACCCCTGCCCCCCAACAC 0.515 30 1394 --- --- --- --- KCNN4 3783 broad.mit.edu 37 19 44284860 44284861 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:44284860_44284861insC ENST00000262888.3 - 1 548_549 c.153_154insG c.(151-156)gggctcfs p.L52fs NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 52 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) CTCACCGAGCACCCCCCGAACC 0.653 12 469 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935586 47935587 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:47935586_47935587insG ENST00000236877.6 - 9 2621_2622 c.2226_2227insC c.(2224-2229)ccccgafs p.R743fs SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs|SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 743 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CAGTACTCGGTGGGGGGCACAC 0.649 9 474 --- --- --- --- CARD8 22900 broad.mit.edu 37 19 48737669 48737670 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:48737669_48737670insC ENST00000391898.3 - 3 382_383 c.340_341insG c.(340-342)catfs p.H114fs CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 0 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) CCTGGGAATGTCCCCCCCAGAT 0.436 22 316 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50098262 50098263 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:50098262_50098263insC ENST00000418929.2 + 4 682_683 c.670_671insC c.(670-672)cccfs p.P224fs NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 4 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TCCAGCCCAGACCCCCCCTTAC 0.703 2 4 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243063 50243064 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:50243063_50243064insG ENST00000246801.3 - 11 1830_1831 c.1748_1749insC c.(1747-1749)caafs p.Q583fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 583 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCCTGTTTTGGGGGGGTTCC 0.545 20 583 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243087 50243088 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:50243087_50243088insC ENST00000246801.3 - 11 1806_1807 c.1724_1725insG c.(1723-1725)gggfs p.G575fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 575 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CACTGCTGCCTCCCCCCATTGT 0.554 11 721 --- --- --- --- ZNF175 7728 broad.mit.edu 37 19 52090436 52090437 + Frame_Shift_Ins INS - - G rs138396190 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:52090436_52090437insG ENST00000262259.2 + 5 1210_1211 c.852_853insG c.(850-855)tgggggfs p.WG284fs ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 284 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GTTCTGAATGTGGGGGGAGCTT 0.441 8 618 --- --- --- --- ZNF649 65251 broad.mit.edu 37 19 52394013 52394014 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr19:52394013_52394014insC ENST00000354957.3 - 5 1659_1660 c.1375_1376insG c.(1375-1377)ttcfs p.F459fs CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTTCACTGAATCCCCCCGTTTC 0.450 14 992 --- --- --- --- DEFB132 400830 broad.mit.edu 37 20 239780 239781 + Frame_Shift_Ins INS - - G rs138201035 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:239780_239781insG ENST00000382376.3 + 2 164_165 c.121_122insG c.(121-123)gggfs p.G41fs NM_207469.2 NP_997352.1 Q7Z7B7 DB132_HUMAN defensin, beta 132 41 defense response to bacterium extracellular region breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 4 ATGTTGCCACTGGGGGGAGACA 0.525 15 397 --- --- --- --- PCED1A 64773 broad.mit.edu 37 20 2816203 2816204 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:2816203_2816204insC ENST00000360652.2 - 8 1771_1772 c.1269_1270insG c.(1267-1272)ggcctgfs p.L424fs PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs NM_022760.3 NP_073597.2 PC-esterase domain containing 1A TGCCTGCAGGGCCCCCCCATTC 0.624 10 295 --- --- --- --- FASTKD5 60493 broad.mit.edu 37 20 3128000 3128001 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:3128000_3128001insC ENST00000380266.3 - 2 2037_2038 c.1716_1717insG c.(1714-1719)ggcccafs p.GP572fs UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 572 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 ACGTACTGGGGCCCCCCCAGCA 0.436 13 264 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:3893120delT ENST00000497424.1 + 4 689 c.378delT c.(376-378)acfs p.T126fs PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 417 G -> A (in dbSNP:rs3737084). cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGGAGGAACTTTTTTTGGTC 0.343 9 812 --- --- --- --- SMOX 54498 broad.mit.edu 37 20 4163027 4163028 + Frame_Shift_Ins INS - - G rs145014650 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:4163027_4163028insG ENST00000305958.4 + 5 1126_1127 c.901_902insG c.(901-903)gggfs p.G301fs SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Intron NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 301 R -> P (in dbSNP:rs6084654). polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity p.R301W(1) breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) AGAGGAGCCCCGGGGGGGCAGG 0.673 9 202 --- --- --- --- JAG1 182 broad.mit.edu 37 20 10620244 10620245 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:10620244_10620245insG ENST00000254958.5 - 26 4073_4074 c.3558_3559insC c.(3556-3561)ccacggfs p.R1187fs JAG1_ENST00000423891.2_Frame_Shift_Ins_p.R1028fs NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 1187 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GGCGTGCCGTTGGGGGGCTTCT 0.515 Alagille Syndrome 7 639 --- --- --- --- SLC24A3 57419 broad.mit.edu 37 20 19664932 19664933 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:19664932_19664933insC ENST00000328041.6 + 11 1211_1212 c.1014_1015insC c.(1012-1017)ttccccfs p.FP338fs NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 338 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCAGCCACTTTCCCCCCAAGAC 0.559 8 295 --- --- --- --- TM9SF4 9777 broad.mit.edu 37 20 30737490 30737491 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:30737490_30737491insC ENST00000217315.5 + 10 1297_1298 c.957_958insC c.(955-960)agccccfs p.SP319fs TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 336 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACGTCTTCAGGCCCCCCCAGTA 0.604 9 218 --- --- --- --- PLAGL2 5326 broad.mit.edu 37 20 30789951 30789952 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:30789951_30789952insG ENST00000246229.4 - 2 294_295 c.30_31insC c.(28-33)ccggatfs p.D11fs NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 11 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCTTGAATCCAGGGGGGGACGC 0.559 7 353 --- --- --- --- DNMT3B 1789 broad.mit.edu 37 20 31384650 31384651 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:31384650_31384651insG ENST00000328111.2 + 13 1673_1674 c.1352_1353insG c.(1351-1353)gggfs p.G451fs DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 451 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTCTCTTTGAGGGGGGGCTCT 0.559 14 355 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33337505 33337506 + Frame_Shift_Ins INS - - G rs61754975 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:33337505_33337506insG ENST00000374796.2 - 10 5062_5063 c.2492_2493insC c.(2491-2493)ccafs p.P831fs NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 831 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CCTGCACATGAGGGGGGACCAT 0.500 7 947 --- --- --- --- CNBD2 140894 broad.mit.edu 37 20 34618503 34618504 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:34618503_34618504insC ENST00000373973.3 + 12 1837_1838 c.1664_1665insC c.(1663-1665)cccfs p.P555fs CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs|CNBD2_ENST00000538900.1_3'UTR cyclic nucleotide binding domain containing 2 CAGAAATACCTCCCCCCATTGA 0.455 16 1801 --- --- --- --- RPN2 6185 broad.mit.edu 37 20 35860725 35860726 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:35860725_35860726insC ENST00000237530.6 + 14 1919_1920 c.1608_1609insC c.(1606-1611)agccccfs p.SP536fs RPN2_ENST00000373622.5_Frame_Shift_Ins_p.SP504fs|RPN2_ENST00000470352.1_Intron NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 536 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) CTGAGAAGAGGCCCCCCACCGT 0.574 10 1105 --- --- --- --- PLCG1 5335 broad.mit.edu 37 20 39798133 39798134 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:39798133_39798134insG ENST00000373272.2 + 23 3022_3023 c.2617_2618insG c.(2617-2619)gggfs p.G873fs PLCG1_ENST00000373271.1_Frame_Shift_Ins_p.G873fs|PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.G873fs NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 873 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity p.R873Q(1) breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) GGACTTGCTGCGGGGGGTCTTG 0.540 7 450 --- --- --- --- LPIN3 64900 broad.mit.edu 37 20 39977798 39977799 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:39977798_39977799insC ENST00000373257.3 + 5 715_716 c.624_625insC c.(622-627)tgccccfs p.CP208fs NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 208 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) ATGGCGAGTGGCCCCCCCAGGC 0.540 13 362 --- --- --- --- MYBL2 4605 broad.mit.edu 37 20 42344628 42344629 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:42344628_42344629insG ENST00000217026.4 + 14 2131_2132 c.2004_2005insG c.(2002-2007)tgggggfs p.WG668fs MYBL2_ENST00000396863.4_Frame_Shift_Ins_p.WG644fs NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 668 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.G669W(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CGGTGGCCTGCGGGGGGACCAG 0.624 8 715 --- --- --- --- SLPI 6590 broad.mit.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:43881730_43881731insG ENST00000338380.2 - 3 326_327 c.306_307insC c.(304-309)ccatttfs p.F103fs NM_003064.2 NP_003055.1 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 103 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 30 593 --- --- --- --- RBPJL 11317 broad.mit.edu 37 20 43940237 43940238 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:43940237_43940238insC ENST00000343694.3 + 4 338_339 c.266_267insC c.(265-267)tccfs p.S89fs RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 89 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) AGGTTCTTCTGCCCCCCGCCCT 0.604 OREG0025979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 393 --- --- --- --- SLC13A3 64849 broad.mit.edu 37 20 45194969 45194970 + Frame_Shift_Ins INS - - G rs149123701 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:45194969_45194970insG ENST00000279027.4 - 11 1410_1411 c.1392_1393insC c.(1390-1395)ccccctfs p.PP464fs SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 464 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity p.P464P(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) ACAGCCAGGGCGGGGGGCACAT 0.604 14 865 --- --- --- --- NFATC2 4773 broad.mit.edu 37 20 50140530 50140531 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:50140530_50140531insG ENST00000371564.3 - 2 468_469 c.249_250insC c.(247-252)ccgccgfs p.P84fs NFATC2_ENST00000414705.1_Frame_Shift_Ins_p.P64fs|NFATC2_ENST00000396009.3_Frame_Shift_Ins_p.P84fs NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 84 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCGAATCGGCCGGGGGGCTCGC 0.663 8 304 --- --- --- --- ATP9A 10079 broad.mit.edu 37 20 50305661 50305662 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:50305661_50305662insG ENST00000338821.5 - 9 1004_1005 c.740_741insC c.(739-741)catfs p.H247fs ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 247 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCTCGCTGATCGGGGGGTCGCT 0.564 11 670 --- --- --- --- ZFP64 55734 broad.mit.edu 37 20 50769075 50769076 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:50769075_50769076insG ENST00000216923.4 - 6 2004_2005 c.1655_1656insC c.(1654-1656)ccafs p.P552fs ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 552 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GCGAGGACTGAGGGGGGGCGAT 0.673 7 197 --- --- --- --- GNAS 2778 broad.mit.edu 37 20 57478756 57478757 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:57478756_57478757insC ENST00000371100.4 + 5 2823_2824 c.2271_2272insC c.(2269-2274)gtccccfs p.VP757fs GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 114 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.V760fs*23(1)|p.V117fs*23(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCAACCTGGTGCCCCCCGTGGA 0.559 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 8 446 --- --- --- --- OSBPL2 9885 broad.mit.edu 37 20 60854257 60854258 + Frame_Shift_Ins INS - - C rs79735057 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:60854257_60854258insC ENST00000313733.3 + 7 738_739 c.536_537insC c.(535-537)cccfs p.P179fs OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 179 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GTCAGTCACCACCCCCCCATCA 0.465 17 394 --- --- --- --- ZBTB46 140685 broad.mit.edu 37 20 62378319 62378320 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr20:62378319_62378320insG ENST00000245663.4 - 5 1883_1884 c.1733_1734insC c.(1732-1734)cggfs p.R578fs ZBTB46_ENST00000395104.1_Frame_Shift_Ins_p.R578fs|ZBTB46_ENST00000302995.2_Frame_Shift_Ins_p.R578fs NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 578 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CAGGGCCTCCTGGGGGGCTGCG 0.723 2 4 --- --- --- --- DSCAM 1826 broad.mit.edu 37 21 41514614 41514615 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr21:41514614_41514615insG ENST00000400454.1 - 18 3753_3754 c.3276_3277insC c.(3274-3279)ccaaaafs p.PK1092fs NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1092 Fibronectin type-III 3. 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 p.E1093K(1) 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) TGGACATTTTCGGGGGGGTAAC 0.406 10 396 --- --- --- --- RSPH1 89765 broad.mit.edu 37 21 43913175 43913176 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr21:43913175_43913176insC ENST00000291536.3 - 2 235_236 c.68_69insG c.(67-69)gcgfs p.A23fs RSPH1_ENST00000398352.3_Intron NM_080860.2 NP_543136.1 Q8WYR4 RSPH1_HUMAN radial spoke head 1 homolog (Chlamydomonas) 23 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 CCTCATTCCGACCCCCCTCATA 0.500 8 614 --- --- --- --- MCM3AP 8888 broad.mit.edu 37 21 47663396 47663397 + Frame_Shift_Ins INS - - G rs34589822 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr21:47663396_47663397insG ENST00000397708.1 - 25 5532_5533 c.5278_5279insC c.(5278-5280)gctfs p.A1760fs MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP-AS1_ENST00000414659.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1760 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AACAGGAAGCCGGGGGGGCGTC 0.525 10 295 --- --- --- --- CECR2 27443 broad.mit.edu 37 22 18022285 18022286 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:18022285_18022286insC ENST00000262608.8 + 15 2390_2391 c.2390_2391insC c.(2389-2391)gccfs p.A797fs CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 838 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGACCACCTGTCCCCCCCAACC 0.609 9 276 --- --- --- --- SERPIND1 3053 broad.mit.edu 37 22 21138419 21138420 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:21138419_21138420insG ENST00000215727.5 + 3 1332_1333 c.1049_1050insG c.(1048-1050)gggfs p.G350fs PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000466162.1_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 350 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CTGGAATACGTGGGGGGCATCA 0.540 OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 508 --- --- --- --- P2RX6P 440799 broad.mit.edu 37 22 21399220 21399221 + RNA INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:21399220_21399221insC ENST00000439119.1 - 0 51 NR_002829.1 TCTGCAGGGCGCCCCCCCACCA 0.599 7 285 --- --- --- --- BMS1P20 96610 broad.mit.edu 37 22 22661173 22661174 + RNA INS - - C rs7410785 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:22661173_22661174insC ENST00000426066.1 + 0 265_266 NR_027293.1 ATACAGGTTTTCCCCCCCCACC 0.406 7 142 --- --- --- --- GAS2L1 10634 broad.mit.edu 37 22 29708272 29708273 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:29708272_29708273insG ENST00000406549.3 + 6 1301_1302 c.1151_1152insG c.(1150-1152)aggfs p.R384fs GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 393 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 TGCCCTGGCATGGGGGGGCCAC 0.678 18 318 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38895454 38895455 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:38895454_38895455insC ENST00000396821.3 - 3 587_588 c.488_489insG c.(487-489)ggafs p.G163fs DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 84 Helicase ATP-binding. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity p.G163fs*20(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GACAAACATCTCCCCCCCTCAC 0.381 9 273 --- --- --- --- ATF4 468 broad.mit.edu 37 22 39917950 39917951 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:39917950_39917951insC ENST00000337304.2 + 2 1281_1282 c.399_400insC c.(397-402)caccccfs p.HP133fs ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 133 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) CTAATAAGCAGCCCCCCCAGAC 0.525 13 335 --- --- --- --- TNRC6B 23112 broad.mit.edu 37 22 40662479 40662480 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:40662479_40662480insG ENST00000454349.2 + 5 2456_2457 c.2245_2246insG c.(2245-2247)gggfs p.G749fs TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.G749fs|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 749 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 AAAGAATGGTTGGGGGGAGGAA 0.510 7 146 --- --- --- --- SMDT1 91689 broad.mit.edu 37 22 42478046 42478048 + In_Frame_Del DEL GAT GAT - rs141840500 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:42478046_42478048delGAT ENST00000331479.3 + 2 378_380 c.304_306delGAT c.(304-306)del p.D107del SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 TGTTCCAGAGGATGATGATGATG 0.478 7 466 --- --- --- --- CYP2D6 1565 broad.mit.edu 37 22 42524213 42524214 + Frame_Shift_Ins INS - - G rs72549352 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:42524213_42524214insG ENST00000360608.5 - 5 919_920 c.805_806insC c.(805-807)agafs p.R269fs NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|NDUFA6-AS1_ENST00000416037.1_RNA NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 269 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGTCAGGTCTCGGGGGGGCTGG 0.629 8 88 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610947 42610948 + Frame_Shift_Ins INS - - G rs138734341 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr22:42610947_42610948insG ENST00000359486.3 - 1 500_501 c.364_365insC c.(364-366)gggfs p.G122fs TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 122 Q -> R (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCTGCTCCCCTGGGGGGGTCCA 0.564 28 721 --- --- --- --- AMELX 265 broad.mit.edu 37 X 11316741 11316742 + Frame_Shift_Ins INS - - C rs2106416 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:11316741_11316742insC ENST00000380712.3 + 6 328_329 c.260_261insC c.(259-261)cccfs p.P87fs ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Frame_Shift_Ins_p.P73fs|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Frame_Shift_Ins_p.P57fs|ARHGAP6_ENST00000380732.3_Intron NM_182680.1 NP_872621.1 Q99217 AMELX_HUMAN amelogenin, X-linked 73 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 TCCCAACAGCACCCCCCGACTC 0.594 7 272 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312610 37312611 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:37312610_37312611insC ENST00000542554.1 + 5 665_666 c.393_394insC c.(391-396)ccccccfs p.PP131fs PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 131 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TTATCACCCCACCCCCCCCACC 0.485 10 108 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48209462 48209463 + Frame_Shift_Ins INS - - G rs6651589 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:48209462_48209463insG ENST00000298396.2 - 6 477_478 c.425_426insC c.(424-426)cggfs p.R142fs SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.P142Q(2) endometrium(3)|large_intestine(1)|lung(9) 13 TTGGTTTTCCCGGGGGGCACAG 0.495 13 393 --- --- --- --- ZC3H12B 340554 broad.mit.edu 37 X 64722003 64722004 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:64722003_64722004insC ENST00000338957.4 + 5 1492_1493 c.1425_1426insC c.(1423-1428)ccccccfs p.PP475fs ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.PP464fs NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 464 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCACAATCCCACCCCCCAAAAG 0.594 7 255 --- --- --- --- ZCCHC12 170261 broad.mit.edu 37 X 117960135 117960136 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:117960135_117960136insC ENST00000310164.2 + 4 1435_1436 c.928_929insC c.(928-930)cccfs p.P310fs NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 GGTCATTGATTCCCCCCACAAT 0.564 13 672 --- --- --- --- PLAC1 10761 broad.mit.edu 37 X 133700357 133700358 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:133700357_133700358insG ENST00000359237.4 - 3 640_641 c.355_356insC c.(355-357)aaafs p.K119fs PLAC1_ENST00000476971.1_5'UTR NM_021796.3 NP_068568.1 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 119 placenta development extracellular region large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) TGGGGACTTTTGGGGGGCAGCA 0.530 9 321 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314193 135314194 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chrX:135314193_135314194insG ENST00000316077.9 - 8 1142_1143 c.922_923insC c.(922-924)ggtfs p.G308fs MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) CACATTCACCTGGGGGGGTGCA 0.535 29 460 --- --- --- --- CKAP2L 150468 broad.mit.edu 37 2 113514753 113514755 + In_Frame_Del DEL AAC AAC - TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr2:113514753_113514755delAAC ENST00000302450.6 - 4 271_273 c.193_195delGTT c.(193-195)del p.V65del CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR NM_152515.3 NP_689728.3 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 65 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TGACAGGCAAAACAACATGGTTG 0.360 85 158 --- --- --- --- PCDHB16 57717 broad.mit.edu 37 5 140563385 140563386 + Frame_Shift_Ins INS - - A rs115003049 byFrequency TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 9e4da18c-4db7-424b-bdda-f4135cc43dfd g.chr5:140563385_140563386insA ENST00000361016.2 + 1 2406_2407 c.1251_1252insA c.(1249-1254)taatatfs p.Y418fs NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 418 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCTGAATATAATATCACCCT 0.455 51 92 --- --- --- --- SFPQ 6421 broad.mit.edu 37 1 35653663 35653664 + Frame_Shift_Ins INS - - CT TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:35653663_35653664insCT ENST00000357214.5 - 7 1823_1824 c.1725_1726insAG c.(1723-1728)gaaagafs p.R576fs NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 576 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) ATCATCTCTTCCTCTCTTCTAC 0.441 T TFE3 papillary renal cell 7 439 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115469134 115469134 + Frame_Shift_Del DEL A A - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr1:115469134delA ENST00000369522.3 + 23 2116 c.1876delA c.(1876-1878)aafs p.K628fs SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K628fs NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 628 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) TAAGGCCTTGAAAAAAAAAGG 0.264 2 4 --- --- --- --- FABP1 2168 broad.mit.edu 37 2 88425822 88425823 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:88425822_88425823insC ENST00000393750.3 - 2 143_144 c.112_113insG c.(112-114)gtcfs p.V38fs FABP1_ENST00000295834.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR P07148 FABPL_HUMAN fatty acid binding protein 1, liver 38 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 GATTTCCGACACCCCCTTGATA 0.530 7 1918 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083951 89083951 + RNA DEL A A - rs111608027 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:89083951delA ENST00000393525.3 + 0 576 CTTTTTTTTCAGTGTATTTCT 0.348 4 9 --- --- --- --- CKAP2L 150468 broad.mit.edu 37 2 113514753 113514755 + In_Frame_Del DEL AAC AAC - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:113514753_113514755delAAC ENST00000302450.6 - 4 271_273 c.193_195delGTT c.(193-195)del p.V65del CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR NM_152515.3 NP_689728.3 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 65 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TGACAGGCAAAACAACATGGTTG 0.360 72 217 --- --- --- --- SLC6A1 6529 broad.mit.edu 37 3 11059620 11059621 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr3:11059620_11059621insG ENST00000287766.4 + 4 751_752 c.330_331insG c.(328-333)atggggfs p.MG110fs SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 110 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ACACCTCCATCGGGGGGCTAGG 0.599 9 490 --- --- --- --- SLC38A3 10991 broad.mit.edu 37 3 50255143 50255144 + RNA INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr3:50255143_50255144insC ENST00000420502.1 + 0 879_880 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) CCTGCCCACTGCCCCCCAACTT 0.584 7 142 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13766238 13766239 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:13766238_13766239insG ENST00000265104.4 - 59 10051_10052 c.9947_9948insC c.(9946-9948)ccafs p.P3316fs DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3316 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGATGAGGTGAGGGGGGCGGCC 0.530 Kartagener syndrome 10 595 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31799656 31799657 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:31799656_31799657insG ENST00000438447.1 + 2 689_690 c.301_302insG c.(301-303)gggfs p.G101fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs O15018 PDZD2_HUMAN PDZ domain containing 2 101 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGAAAAGCGCAGGGGGGGCAAG 0.574 9 247 --- --- --- --- NPR3 4883 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 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 11 538 --- --- --- --- PDLIM4 8572 broad.mit.edu 37 5 131606778 131606779 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:131606778_131606779insC ENST00000253754.3 + 4 562_563 c.498_499insC c.(496-501)ccccccfs p.PP166fs PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Frame_Shift_Ins_p.PP166fs|P4HA2_ENST00000471826.1_Intron NM_001131027.1|NM_003687.3 NP_001124499.1|NP_003678.2 P50479 PDLI4_HUMAN PDZ and LIM domain 4 166 protein binding|zinc ion binding p.S169fs*50(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGTGTCTCCACCCCCCAGGTA 0.589 8 681 --- --- --- --- PCDHB16 57717 broad.mit.edu 37 5 140563385 140563386 + Frame_Shift_Ins INS - - A rs115003049 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:140563385_140563386insA ENST00000361016.2 + 1 2406_2407 c.1251_1252insA c.(1249-1254)taatatfs p.Y418fs NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 418 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCTGAATATAATATCACCCT 0.455 39 74 --- --- --- --- GABBR1 2550 broad.mit.edu 37 6 29573436 29573438 + In_Frame_Del DEL CAG CAG - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr6:29573436_29573438delCAG ENST00000377034.4 - 20 2682_2684 c.2347_2349delCTG c.(2347-2349)del p.L783del GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del 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 7 635 --- --- --- --- PHF1 5252 broad.mit.edu 37 6 33383636 33383637 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr6:33383636_33383637insC ENST00000374516.3 + 15 1736_1737 c.1465_1466insC c.(1465-1467)cccfs p.P489fs PHF1_ENST00000374512.3_Frame_Shift_Ins_p.VP453fs NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 489 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A489V(1)|p.H491fs*3(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CCCTAAAAGTGCCCCCCACTCG 0.530 7 731 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87081037 87081038 + Frame_Shift_Ins INS - - A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:87081037_87081038insA ENST00000265723.4 - 7 720_721 c.609_610insT c.(607-612)ttcaggfs p.R204fs ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 204 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ATGAATCCTGCAAAAAACGTGG 0.446 8 727 --- --- --- --- PON3 5446 broad.mit.edu 37 7 94993290 94993291 + Frame_Shift_Ins INS - - A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:94993290_94993291insA ENST00000265627.5 - 6 589_590 c.579_580insT c.(577-582)ttagatfs p.LD193fs PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Frame_Shift_Ins_p.LD193fs NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) AAGATCATCTCAAAAAATGACA 0.441 7 881 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccafs p.PT571fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 7 273 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 2 4 --- --- --- --- TMC1 117531 broad.mit.edu 37 9 75407208 75407209 + Frame_Shift_Ins INS - - T TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr9:75407208_75407209insT ENST00000297784.5 + 17 2046_2047 c.1506_1507insT c.(1504-1509)ccttttfs p.PF502fs TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Frame_Shift_Ins_p.PF502fs|TMC1_ENST00000340019.3_Frame_Shift_Ins_p.PF502fs NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 502 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 CTGGACCACCCTTTTTTGTTCA 0.441 10 1426 --- --- --- --- PTGS1 5742 broad.mit.edu 37 9 125141076 125141077 + Frame_Shift_Ins INS - - C rs147795437 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr9:125141076_125141077insC ENST00000362012.2 + 5 380_381 c.375_376insC c.(373-378)agccccfs p.SP125fs PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.SP100fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.SP125fs|PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.SP16fs NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 125 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TTATCCCCAGTCCCCCCACCTA 0.535 9 234 --- --- --- --- PTGS1 5742 broad.mit.edu 37 9 125148875 125148876 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr9:125148875_125148876insC ENST00000362012.2 + 9 1165_1166 c.1160_1161insC c.(1159-1161)cccfs p.P387fs PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.P362fs|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.P387fs|PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.P278fs NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 387 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TACCACTGGCACCCCCTCATGC 0.540 8 705 --- --- --- --- LARP4B 23185 broad.mit.edu 37 10 910158 910159 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:910158_910159insC ENST00000316157.3 - 3 233_234 c.193_194insG c.(193-195)tccfs p.S65fs NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 65 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TAACACAGGAGCCCCCCACACT 0.520 8 351 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 8 351 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102762592 102762593 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:102762592_102762593insC ENST00000370220.1 + 1 3360_3361 c.297_298insC c.(295-300)tcccccfs p.SP99fs LZTS2_ENST00000370223.3_Frame_Shift_Ins_p.SP99fs Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 99 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center p.S102fs*41(2) breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGACAGAGTCACCCCCCAGCCC 0.614 7 222 --- --- --- --- PDCD11 22984 broad.mit.edu 37 10 105176292 105176293 + Frame_Shift_Ins INS - - A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr10:105176292_105176293insA ENST00000369797.3 + 13 1657_1658 c.1563_1564insA c.(1561-1566)ctaaaafs p.LK521fs NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 521 S1 motif 5. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TGATGACCCTGAAAAAAACCCT 0.485 OREG0020494 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 564 --- --- --- --- SCUBE2 57758 broad.mit.edu 37 11 9048995 9048996 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:9048995_9048996insG ENST00000457346.2 - 20 2690_2691 c.2616_2617insC c.(2614-2619)ccagcgfs p.A873fs SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Frame_Shift_Ins_p.A816fs|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Frame_Shift_Ins_p.A844fs Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 844 CUB. extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) ATGCGGCGCTTGGGGGGTGGGT 0.569 7 162 --- --- --- --- NAT10 55226 broad.mit.edu 37 11 34154644 34154645 + Frame_Shift_Ins INS - - C rs61735311 byFrequency TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:34154644_34154645insC ENST00000257829.3 + 16 1895_1896 c.1689_1690insC c.(1687-1692)gtccccfs p.VP563fs NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Frame_Shift_Ins_p.VP491fs NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 563 N-acetyltransferase. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TGCCTCCCGTGCCCCCCACCCA 0.559 7 369 --- --- --- --- OR4D11 219986 broad.mit.edu 37 11 59271497 59271498 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:59271497_59271498insG ENST00000313253.1 + 1 449_450 c.449_450insG c.(448-450)aggfs p.R150fs NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 GCCTCTTGGATGGGGGGCTTTG 0.550 7 620 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61093159 61093160 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:61093159_61093160insC ENST00000301764.7 - 6 1082_1083 c.685_686insG c.(685-687)catfs p.H229fs DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 229 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 AATGATGATGGCCCCCCCAAAG 0.490 Nucleotide excision repair (NER) 10 120 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61178448 61178449 + Frame_Shift_Del DEL TC TC - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:61178448_61178449delTC ENST00000340437.4 - 9 1591_1592 c.1511_1512delGA c.(1510-1512)afs p.R504fs CPSF7_ENST00000394888.4_Frame_Shift_Del_p.R461fs|CPSF7_ENST00000448745.1_Frame_Shift_Del_p.R452fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.R452fs NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 461 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 TATCCCGGTGTCTCTCATGCTC 0.520 9 248 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62295353 62295353 + Frame_Shift_Del DEL A A - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:62295353delA ENST00000378024.4 - 5 6810 c.6536delT c.(6535-6537)tcfs p.F2179fs AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2179 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGGGGTCTTGAAGTGCATCTC 0.488 8 944 --- --- --- --- STX5 6811 broad.mit.edu 37 11 62598584 62598585 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:62598584_62598585insG ENST00000294179.3 - 2 284_285 c.131_132insC c.(130-132)cgtfs p.R44fs STX5_ENST00000394690.1_Splice_Site|STX5_ENST00000377897.4_Frame_Shift_Ins_p.R44fs|STX5_ENST00000541317.1_Intron NM_001244666.1|NM_003164.4 NP_001231595.1|NP_003155.2 Q13190 STX5_HUMAN syntaxin 5 44 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity p.V45fs*38(1) breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 CGAGGGTCACTGGGGGGGGCAG 0.629 2 4 --- --- --- --- ALDH3B2 222 broad.mit.edu 37 11 67433066 67433067 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:67433066_67433067insC ENST00000349015.3 - 7 833_834 c.395_396insG c.(394-396)gaafs p.E132fs ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 132 G -> V (in Ref. 4; BAC03897). 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) AGGGGTTCTTGCCCCCCAGCTC 0.644 10 679 --- --- --- --- GNB3 2784 broad.mit.edu 37 12 6952601 6952602 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:6952601_6952602insG ENST00000229264.3 + 7 747_748 c.342_343insG c.(340-345)tgggggfs p.WG114fs GNB3_ENST00000435982.2_Frame_Shift_Ins_p.WG114fs NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 114 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity p.G115W(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 TTGTGGCATGTGGGGGGCTGGA 0.584 7 410 --- --- --- --- PRB1 5542 broad.mit.edu 37 12 11506884 11506885 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:11506884_11506885insG ENST00000500254.2 - 3 189_190 c.152_153insC c.(151-153)cccfs p.P51fs PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 234 extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) CTGGAGGAGGTGGGGGGCCCTG 0.579 7 904 --- --- --- --- LRP6 4040 broad.mit.edu 37 12 12278301 12278302 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:12278301_12278302insG ENST00000261349.4 - 21 4453_4454 c.4377_4378insC c.(4375-4380)ccatgafs p.*1460fs BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.*1415fs|LRP6_ENST00000540415.1_5'UTR NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1460 cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GCTCGGTCATAGGGGGGTCCAC 0.446 7 415 --- --- --- --- CYP27B1 1594 broad.mit.edu 37 12 58160653 58160654 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:58160653_58160654insC ENST00000228606.4 - 1 380_381 c.171_172insG c.(169-174)ggtgtcfs p.V58fs RP11-571M6.13_ENST00000546609.1_RNA NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 58 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) AGCCTCGACAGCCCCCCCTTGC 0.599 11 208 --- --- --- --- ATP7B 540 broad.mit.edu 37 13 52532497 52532498 + Frame_Shift_Ins INS - - G rs137853287 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr13:52532497_52532498insG ENST00000242839.4 - 8 2460_2461 c.2304_2305insC c.(2302-2307)cctgctfs p.A769fs ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_Intron NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 769 M -> I (in WD).|M -> R (in WD).|M -> V (in WD). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ACAAAGAGCATGGGGGGCGTGT 0.520 Wilson disease 9 980 --- --- --- --- RP11-739G5.1 0 broad.mit.edu 37 15 94216823 94216828 + RNA DEL CTCCTT CTCCTT - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr15:94216823_94216828delCTCCTT ENST00000554318.2 + 0 324 cttcctcctcctccttctccttctcc 0.461 4 5 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2807545 2807546 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:2807545_2807546insG ENST00000301740.8 + 3 864_865 c.315_316insG c.(313-318)ccggggfs p.PG105fs NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 105 Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 ATGTGAACCCTGGGGGCAAGGA 0.559 8 643 --- --- --- --- ERN2 10595 broad.mit.edu 37 16 23718095 23718096 + Frame_Shift_Ins INS - - G rs143761786 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:23718095_23718096insG ENST00000256797.4 - 6 778_779 c.610_611insC c.(610-612)cctfs p.P204fs ERN2_ENST00000457008.2_Frame_Shift_Ins_p.P156fs NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 156 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AATGTAGAGGCGGGGGGTGGAG 0.604 7 541 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28846490 28846491 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:28846490_28846491insC ENST00000336783.4 + 19 2712_2713 c.2545_2546insC c.(2545-2547)cccfs p.P849fs ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.P855fs|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.P849fs|RP11-24N18.1_ENST00000563565.1_RNA NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 849 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 AGAGCAGCCTACCCCCCAAGCC 0.624 9 689 --- --- --- --- ITGAM 3684 broad.mit.edu 37 16 31308913 31308914 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:31308913_31308914insC ENST00000544665.3 + 13 1506_1507 c.1435_1436insC c.(1435-1437)cccfs p.P479fs ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.P479fs NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 479 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CCTCATCGGGGCCCCCCATTAC 0.673 7 395 --- --- --- --- AC012322.1 0 broad.mit.edu 37 16 64294575 64294575 + RNA DEL A A - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:64294575delA ENST00000561657.1 - 0 584 ACACACCGTTAAAAAAAAAAC 0.493 15 497 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 4 8 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 9 156 --- --- --- --- POLR2A 5430 broad.mit.edu 37 17 7402718 7402719 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr17:7402718_7402719insC ENST00000322644.6 + 10 1978_1979 c.1579_1580insC c.(1579-1581)cccfs p.P527fs POLR2A_ENST00000572844.1_Frame_Shift_Ins_p.P527fs NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 527 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) CATGATTGTCACCCCCCAGAGC 0.564 8 212 --- --- --- --- CD300LG 146894 broad.mit.edu 37 17 41931337 41931338 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr17:41931337_41931338insC ENST00000317310.4 + 4 685_686 c.644_645insC c.(643-645)cccfs p.P215fs CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 215 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) GGGAGCTCCCGCCCCCCCATGC 0.629 14 138 --- --- --- --- C17orf70 80233 broad.mit.edu 37 17 79517945 79517946 + Frame_Shift_Ins INS - - G rs149308791 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr17:79517945_79517946insG ENST00000537152.1 - 3 646_647 c.121_122insC c.(121-123)cttfs p.L41fs C17orf70_ENST00000327787.8_Frame_Shift_Ins_p.L192fs NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 192 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) TGGAAGGAAGTGGGGGGCTGCA 0.693 2 4 --- --- --- --- EMR3 84658 broad.mit.edu 37 19 14774330 14774331 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:14774330_14774331insG ENST00000253673.5 - 3 198_199 c.98_99insC c.(97-99)caafs p.Q33fs EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.Q33fs|EMR3_ENST00000443157.2_Frame_Shift_Ins_p.Q33fs NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 33 EGF-like 1. neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 AGGAAGCATTTGGGGGGCACTT 0.485 10 291 --- --- --- --- ZNF93 81931 broad.mit.edu 37 19 20027414 20027415 + Frame_Shift_Ins INS - - A TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:20027414_20027415insA ENST00000343769.5 + 3 204_205 c.176_177insA c.(175-177)gaafs p.E59fs ZNF93_ENST00000592160.1_Frame_Shift_Ins_p.E59fs|ZNF93_ENST00000591366.1_Frame_Shift_Ins_p.E59fs|AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 59 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 CTGGAGCAAGGAAAAAAACCTT 0.406 8 331 --- --- --- --- GPI 2821 broad.mit.edu 37 19 34887281 34887282 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:34887281_34887282insG ENST00000415930.3 + 13 1341_1342 c.1171_1172insG c.(1171-1173)gggfs p.G391fs GPI_ENST00000586425.1_Frame_Shift_Ins_p.G380fs|GPI_ENST00000356487.5_Frame_Shift_Ins_p.G380fs NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 380 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CCCCATTGTGTGGGGGGAGCCA 0.564 7 143 --- --- --- --- ZBTB32 27033 broad.mit.edu 37 19 36205537 36205538 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:36205537_36205538insC ENST00000392197.2 + 3 327_328 c.9_10insC c.(7-12)ctccccfs p.LP3fs ZBTB32_ENST00000262630.3_Frame_Shift_Ins_p.LP3fs Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 3 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAATGTCCCTGCCCCCCATAAG 0.569 10 565 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935586 47935587 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:47935586_47935587insG ENST00000236877.6 - 9 2621_2622 c.2226_2227insC c.(2224-2229)ccccgafs p.R743fs SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 743 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CAGTACTCGGTGGGGGGCACAC 0.649 9 474 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50098262 50098263 + Frame_Shift_Ins INS - - C TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr19:50098262_50098263insC ENST00000418929.2 + 4 682_683 c.670_671insC c.(670-672)cccfs p.P224fs NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 4 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TCCAGCCCAGACCCCCCCTTAC 0.703 2 4 --- --- --- --- SMOX 54498 broad.mit.edu 37 20 4163027 4163028 + Frame_Shift_Ins INS - - G rs145014650 by1000genomes TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr20:4163027_4163028insG ENST00000305958.4 + 5 1126_1127 c.901_902insG c.(901-903)gggfs p.G301fs SMOX_ENST00000278795.3_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 301 R -> P (in dbSNP:rs6084654). polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity p.R301W(1) breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) AGAGGAGCCCCGGGGGGGCAGG 0.673 9 202 --- --- --- --- SMDT1 91689 broad.mit.edu 37 22 42478046 42478048 + In_Frame_Del DEL GAT GAT - rs141840500 TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr22:42478046_42478048delGAT ENST00000331479.3 + 2 378_380 c.304_306delGAT c.(304-306)del p.D107del SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 TGTTCCAGAGGATGATGATGATG 0.478 7 466 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-AK-3427-01A-01W-0886-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a0b4ff-e602-4f6e-b535-69a129f78eea 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 7 650 --- --- --- --- CKAP2L 150468 broad.mit.edu 37 2 113514753 113514755 + In_Frame_Del DEL AAC AAC - TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:113514753_113514755delAAC ENST00000302450.6 - 4 271_273 c.193_195delGTT c.(193-195)del p.V65del CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_Intron NM_152515.3 NP_689728.3 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 65 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TGACAGGCAAAACAACATGGTTG 0.360 85 158 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217474994 217474994 + RNA DEL T T - rs71401155 TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr2:217474994delT ENST00000441803.1 + 0 195 tctttctttcttttttttttt 0.393 3 2 --- --- --- --- PCDHB16 57717 broad.mit.edu 37 5 140563385 140563386 + Frame_Shift_Ins INS - - A rs115003049 byFrequency TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr5:140563385_140563386insA ENST00000361016.2 + 1 2406_2407 c.1251_1252insA c.(1249-1254)taatatfs p.Y418fs NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 418 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCTGAATATAATATCACCCT 0.455 51 92 --- --- --- --- TRGC2 6967 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 22 111 --- --- --- --- TRGC2 6967 broad.mit.edu 37 7 38284914 38284917 + RNA DEL CTGA CTGA - rs147429736 by1000genomes TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:38284914_38284917delCTGA ENST00000436911.2 - 0 330 gtgtgtgtgtctgagtgtgtctgt 0.392 14 67 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595145 82595146 + Frame_Shift_Ins INS - - G TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr7:82595145_82595146insG ENST00000423517.2 - 4 4295_4296 c.3958_3959insC c.(3958-3960)gccfs p.A1320fs PCLO_ENST00000333891.8_Frame_Shift_Ins_p.A1320fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1259 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 TGGCTGTGGCTGTTCTTTTATT 0.406 7 227 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 8 9 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 5 10 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 17 291 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 3 5 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-AK-3427-01A-01D-0966-08 TCGA-AK-3427-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e82dec65-35c3-47c4-b569-f7c39720a474 268e24ba-3b04-4f38-b63e-927ff8bc62d3 g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 7 142 --- --- --- ---