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 ITPK1 3705 broad.mit.edu 37 14 93412799 93412799 + Nonsense_Mutation SNP C C A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr14:93412799C>A ENST00000267615.6 - 10 951 c.778G>T c.(778-780)Gag>Tag p.E260* ITPK1_ENST00000555495.1_Nonsense_Mutation_p.E141*|ITPK1_ENST00000354313.3_Nonsense_Mutation_p.E260*|ITPK1_ENST00000556603.2_Nonsense_Mutation_p.E260*|ITPK1_ENST00000556954.1_5'UTR Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 260 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) CGGATGACCTCGTCGCTCGGC 0.632000 111 123 2.90702e-44 3.05421e-44 1 1 0 UNC93B1 81622 broad.mit.edu 37 11 67759316 67759316 + Missense_Mutation SNP C C T rs4014596 TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr11:67759316C>T ENST00000227471.2 - 12 1571 c.1492G>A c.(1492-1494)Gtg>Atg p.V498M UNC93B1_ENST00000530331.1_5'UTR NM_030930.2 NP_112192.2 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 (C. elegans) 499 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome p.V498M(1) ACCAGCAGCACCGCCAGCTTA 0.741000 3 42 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50213492 50213492 + RNA SNP A A G TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chrX:50213492A>G ENST00000376025.2 - 0 245 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AGGGACCTGGAGCAAGCTCTG 0.677000 247 250 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20362076 20362076 + Missense_Mutation SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr16:20362076G>A ENST00000396138.4 - 2 197 c.131C>T c.(130-132)gCg>gTg p.A44V UMOD_ENST00000570689.1_5'UTR|UMOD_ENST00000424589.1_5'UTR|UMOD_ENST00000396134.2_5'UTR|UMOD_ENST00000396142.2_5'UTR|UMOD_ENST00000302509.4_5'UTR P07911 UROM_HUMAN uromodulin 0 EGF-like 1. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TGCTCTTCCCGCTACTTCAGG 0.517000 4 163 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54664079 54664079 + Silent SNP G G A rs77135688 byFrequency TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr19:54664079G>A ENST00000376591.4 - 15 2234 c.2103C>T c.(2101-2103)cgC>cgT p.R701R TMC4_ENST00000301187.4_Silent_p.R695R|TMC4_ENST00000416963.1_Silent_p.R283R NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 701 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCGCCACAGCGCGCCGTGCCA 0.612000 138 179 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95484663 95484663 + RNA SNP T T C rs7421280 TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr2:95484663T>C ENST00000432432.2 - 0 1271 NR_040113.1 TTATTTCCTTTTTTGACCTTT 0.259000 6 406 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33515104 33515104 + Silent SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr10:33515104G>A ENST00000265371.4 - 8 1620 c.1095C>T c.(1093-1095)aaC>aaT p.N365N NRP1_ENST00000374816.3_Silent_p.N365N|NRP1_ENST00000374821.5_Silent_p.N365N|NRP1_ENST00000374822.4_Silent_p.N365N|NRP1_ENST00000374823.5_Silent_p.N365N|NRP1_ENST00000374867.2_Silent_p.N365N|NRP1_ENST00000395995.1_Silent_p.N365N O14786 NRP1_HUMAN neuropilin 1 365 F5/8 type C 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) AGTCTTCCCCGTTGGAGCTAA 0.433000 238 277 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845604 106845604 + Silent SNP A A T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chrX:106845604A>T ENST00000276185.4 + 16 4434 c.4434A>T c.(4432-4434)tcA>tcT p.S1478S Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1478 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 CTCTGGAGTCACCGACGCTGG 0.632000 4 218 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47629468 47629468 + Splice_Site SNP C C A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr21:47629468C>A ENST00000397728.3 - 13 1344 c.1266_splice c.e13+1 p.Q422_splice LSS_ENST00000457828.2_Splice_Site_p.Q342_splice|LSS_ENST00000356396.4_Splice_Site_p.Q422_splice|LSS_ENST00000522411.1_Splice_Site_p.Q411_splice NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 422 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) CCGGCCTCACCTGTGAGAGCC 0.652000 3 49 6.4e-05 6.55802e-05 1 1 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 7 166 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 8 327 0 0 1 0 0 EFCAB13 124989 broad.mit.edu 37 17 45517840 45517840 + Silent SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr17:45517840C>T ENST00000331493.2 + 25 3093 c.2682C>T c.(2680-2682)tcC>tcT p.S894S NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 CTAAATTATCCGATATATTGA 0.294000 18 501 0 0 1 0 0 BZW2 28969 broad.mit.edu 37 7 16722403 16722403 + Splice_Site SNP A A T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr7:16722403A>T ENST00000433922.2 + 5 517 c.e5-1 BZW2_ENST00000452975.2_Splice_Site|BZW2_ENST00000258761.3_Splice_Site|BZW2_ENST00000405202.1_Splice_Site NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 cell differentiation|nervous system development|RNA metabolic process protein binding p.?(1) cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) TTTTTTTTTTAGGTCTTCAAT 0.274000 5 243 0 0 1 0 0 SPRR3 6707 broad.mit.edu 37 1 152975691 152975691 + Silent SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:152975691C>T ENST00000331860.3 + 3 345 c.195C>T c.(193-195)ggC>ggT p.G65G SPRR3_ENST00000295367.4_Silent_p.G65G|SPRR3_ENST00000542696.1_Silent_p.G65G NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 65 14 X 8 AA approximate tandem repeats. Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802). keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGAGCCAGGCTGTACCAAGG 0.557000 5 204 0 0 1 0 0 SLC6A16 28968 broad.mit.edu 37 19 49797186 49797186 + Silent SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr19:49797186G>A ENST00000454748.3 - 9 1717 c.1516C>T c.(1516-1518)Ctg>Ttg p.L506L SLC6A16_ENST00000335875.4_Silent_p.L506L Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 506 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) CCCATGGCCAGCAACATCAGG 0.498000 6 590 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262122 39262122 + Missense_Mutation SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr17:39262122G>A ENST00000391415.1 + 1 539 c.482G>A c.(481-483)cGc>cAc p.R161H NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 161 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 agctgctgccgcccctcttgc 0.652000 15 56 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7348716 7348716 + Silent SNP A A G TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr17:7348716A>G ENST00000306071.2 + 2 253 c.186A>G c.(184-186)caA>caG p.Q62Q FGF11_ENST00000575331.1_3'UTR NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 62 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) TCCTGGCGCAACTCATCAGCC 0.682000 30 42 0 0 1 0 0 ZNF367 195828 broad.mit.edu 37 9 99180246 99180246 + Silent SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr9:99180246G>A ENST00000375256.4 - 1 365 c.69C>T c.(67-69)tgC>tgT p.C23C NM_153695.3 NP_710162.1 Q7RTV3 ZN367_HUMAN zinc finger protein 367 23 Pro-rich. regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1) 12 Acute lymphoblastic leukemia(62;0.0167) GGGAGTCGTGGCAGAAGATGA 0.756000 5 48 0 0 1 0 0 GOLT1A 127845 broad.mit.edu 37 1 204170871 204170871 + Silent SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:204170871C>T ENST00000308302.3 - 3 371 c.186G>A c.(184-186)cgG>cgA p.R62R NM_198447.1 NP_940849.1 Q6ZVE7 GOT1A_HUMAN golgi transport 1A 62 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane p.R62R(1) kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) TGAGTTTGTGCCGTTGGAAGA 0.567000 6 445 0 0 1 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43696705 43696705 + Missense_Mutation SNP T T G TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr15:43696705T>G ENST00000564079.1 + 17 2183 c.1943T>G c.(1942-1944)cTa>cGa p.L648R TUBGCP4_ENST00000260383.7_Missense_Mutation_p.L649R|TUBGCP4_ENST00000399460.3_3'UTR NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 649 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) CTGTTACGACTAGATTATAAC 0.453000 29 272 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162579 90162579 + RNA SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr16:90162579C>T ENST00000564451.1 + 0 1932 TUBB8P7_ENST00000567960.1_RNA AGGAGTATGCCGAGGAGGAGG 0.512000 7 612 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140208566 140208566 + Missense_Mutation SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr5:140208566G>A ENST00000529310.1 + 1 1004 c.890G>A c.(889-891)cGa>cAa p.R297Q PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R297Q|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCATAGATCGAAATACGGGA 0.418000 289 327 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65253368 65253368 + Silent SNP A A G TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr14:65253368A>G ENST00000389722.3 - 15 3368 c.3315T>C c.(3313-3315)ggT>ggC p.G1105G SPTB_ENST00000556626.1_Silent_p.G1105G|SPTB_ENST00000542895.1_Silent_p.G1105G|SPTB_ENST00000389720.3_Silent_p.G1105G|SPTB_ENST00000389721.5_Silent_p.G1105G NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1105 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CATCCTTGATACCTGCATGCT 0.577000 73 105 0 0 1 0 0 RP11-178C3.2 0 broad.mit.edu 37 17 58066651 58066651 + RNA SNP C C T rs144367363 by1000genomes TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr17:58066651C>T ENST00000586209.1 + 0 158 ACTGGTAAAGCTGTTTAAGAG 0.333000 5 95 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 9 276 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155170284 155170284 + Missense_Mutation SNP T T C TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:155170284T>C ENST00000368378.3 - 14 1686 c.1666A>G c.(1666-1668)Aat>Gat p.N556D RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.N436D|THBS3_ENST00000541990.1_Missense_Mutation_p.N85D|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000428962.2_Intron NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 556 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTTCCCCATTGCCATCTGTG 0.547000 236 269 0 0 1 0 0 AC004381.6 0 broad.mit.edu 37 16 20856445 20856445 + Missense_Mutation SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr16:20856445G>A ENST00000261377.6 + 18 2215 c.2006G>A c.(2005-2007)gGc>gAc p.G669D AC004381.6_ENST00000348433.6_Missense_Mutation_p.G638D|AC004381.6_ENST00000564274.1_Missense_Mutation_p.G669D|ERI2_ENST00000564349.1_Intron NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 AAGCTGAAAGGCAGGCATGCC 0.537000 79 112 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946336 16946336 + RNA SNP G G A rs11586784 by1000genomes TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:16946336G>A ENST00000412962.1 - 0 1183 CAGGGCTCACGAACCTGCTGC 0.662000 4 61 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202900538 202900538 + Missense_Mutation SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr2:202900538G>A ENST00000286201.1 + 1 1229 c.1168G>A c.(1168-1170)Gcc>Acc p.A390T NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 390 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.A390T(1) breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 GGCCGTGCCCGCCGTCAAGAC 0.667000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 294 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42005281 42005281 + Silent SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr7:42005281G>A ENST00000395925.3 - 15 3474 c.3390C>T c.(3388-3390)gaC>gaT p.D1130D GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1130 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GCCCGGGCGCGTCAAAGTCAC 0.642000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 160 295 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 5 104 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129813459 129813459 + Splice_Site SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr6:129813459G>A ENST00000421865.2 + 58 8124 c.e58-1 LAMA2_ENST00000498257.1_Splice_Site NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CATTCTATTAGCCCCATGGAC 0.413000 12 665 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134072641 134072641 + Missense_Mutation SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr9:134072641G>A ENST00000359428.5 + 29 3904 c.3760G>A c.(3760-3762)Gca>Aca p.A1254T NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Missense_Mutation_p.A1244T|NUP214_ENST00000451030.1_Missense_Mutation_p.A1255T|NUP214_ENST00000483497.2_Missense_Mutation_p.A80T P35658 NU214_HUMAN nucleoporin 214kDa 1254 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CCAGCCGGACGCATTCTCATC 0.483000 T """DEK, SET, ABL1""" """AML, T-ALL""" 5 420 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25011062 25011062 + Missense_Mutation SNP C C G rs138472970 by1000genomes TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr22:25011062C>G ENST00000400382.1 + 7 1105 c.350C>G c.(349-351)aCc>aGc p.T117S GGT1_ENST00000248923.4_Missense_Mutation_p.T117S|GGT1_ENST00000406383.2_Missense_Mutation_p.T117S|GGT1_ENST00000400380.1_Missense_Mutation_p.T117S|GGT1_ENST00000400383.1_Missense_Mutation_p.T117S P19440 GGT1_HUMAN gamma-glutamyltransferase 1 117 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding p.T117S(8) breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) GCCTTTGCCACCATGTTCAAC 0.637000 5 135 0 0 1 0 0 SPTBN1 0 broad.mit.edu 37 2 54887113 54887113 + Missense_Mutation SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr2:54887113C>T ENST00000333896.5 + 31 6743 c.6358C>T c.(6358-6360)Cca>Tca p.P2120S SPTBN1_ENST00000356805.4_Missense_Mutation_p.P2133S NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 2133 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AAACGGTTTGCCAGCTGAACA 0.473000 4 219 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18690942 18690942 + Silent SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr10:18690942G>A ENST00000396576.2 + 2 639 c.138G>A c.(136-138)cgG>cgA p.R46R CACNB2_ENST00000282343.8_Silent_p.R73R|CACNB2_ENST00000377319.3_Silent_p.R46R|CACNB2_ENST00000352115.6_Silent_p.R101R|CACNB2_ENST00000324631.7_Silent_p.R101R|CACNB2_ENST00000377331.2_Silent_p.R73R|CACNB2_ENST00000377328.1_Silent_p.R101R|CACNB2_ENST00000377315.4_Silent_p.R53R|CACNB2_ENST00000377329.4_Silent_p.R47R NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 101 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGCGGAGCGGCAGGCCCAGG 0.567000 5 203 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505830 195505830 + Silent SNP G G C TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr3:195505830G>C ENST00000463781.3 - 2 13080 c.12621C>G c.(12619-12621)acC>acG p.T4207T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4207T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T4207T(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CAGGAAGAGGGGTGGCGTGAC 0.602000 5 24 0 0 1 0 0 PCDHA11 0 broad.mit.edu 37 5 140248828 140248828 + Missense_Mutation SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr5:140248828G>A ENST00000398640.2 + 1 140 c.140G>A c.(139-141)cGc>cAc p.R47H PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGTGGGCCGCATCGCGCAG 0.642000 7 571 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 5 176 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121126282 121126282 + Missense_Mutation SNP T T C TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr3:121126282T>C ENST00000273666.6 + 24 3123 c.2852T>C c.(2851-2853)aTa>aCa p.I951T STXBP5L_ENST00000497029.1_Missense_Mutation_p.I925T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I927T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I927T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I951T NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 951 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CAGTATACAATAATCTGCTCA 0.368000 223 225 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284937 223284937 + Missense_Mutation SNP G G C TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:223284937G>C ENST00000540964.1 - 4 1898 c.1437C>G c.(1435-1437)ttC>ttG p.F479L TLR5_ENST00000342210.6_Missense_Mutation_p.F479L O60602 TLR5_HUMAN toll-like receptor 5 479 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TTTCTCCAAGGAAAAGCTGTT 0.413000 219 253 0 0 1 0 0 GPT 2875 broad.mit.edu 37 8 145732324 145732324 + Missense_Mutation SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr8:145732324C>T ENST00000394955.2 + 11 1655 c.1432C>T c.(1432-1434)Cgg>Tgg p.R478W GPT_ENST00000528431.1_Missense_Mutation_p.R478W NM_005309.2 NP_005300.1 P24298 ALAT1_HUMAN glutamic-pyruvate transaminase (alanine aminotransferase) 478 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGAGAAACTGCGGCTGCTGCT 0.632000 4 230 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 6 310 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 24993472 24993472 + Silent SNP C C A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr20:24993472C>A ENST00000537502.1 - 9 2965 c.1434G>T c.(1432-1434)ggG>ggT p.G478G ACSS1_ENST00000323482.4_Silent_p.G561G|ACSS1_ENST00000542618.1_Silent_p.G440G|ACSS1_ENST00000432802.2_Intron Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 561 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TCTCTGCGGTCCCCAGCCGGT 0.587000 165 200 4.90236e-94 5.21661e-94 1 1 0 FNDC1 84624 broad.mit.edu 37 6 159688923 159688923 + Missense_Mutation SNP C C A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr6:159688923C>A ENST00000297267.9 + 22 5734 c.5534C>A c.(5533-5535)cCt>cAt p.P1845H FNDC1_ENST00000340366.6_Missense_Mutation_p.P1782H NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1845 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AGAACAGGGCCTCAGTCCTAT 0.448000 4 117 2.56e-06 2.656e-06 1 1 0 BAG3 9531 broad.mit.edu 37 10 121432046 121432046 + Missense_Mutation SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr10:121432046G>A ENST00000369085.3 + 3 1093 c.787G>A c.(787-789)Gca>Aca p.A263T NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 263 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) CCTGCGGGCGGCATCCCCGTT 0.677000 4 143 0 0 1 0 0 PRPF4 9128 broad.mit.edu 37 9 116049072 116049072 + Missense_Mutation SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr9:116049072C>T ENST00000374199.4 + 9 1297 c.896C>T c.(895-897)gCg>gTg p.A299V PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V O43172 PRP4_HUMAN pre-mRNA processing factor 4 300 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 GCCTCTTGTGCGGCTGATGGC 0.468000 10 1782 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 23847561 23847561 + Missense_Mutation SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr16:23847561G>A ENST00000303531.7 + 1 217 c.65G>A c.(64-66)cGc>cAc p.R22H PRKCB_ENST00000321728.7_Missense_Mutation_p.R22H|PRKCB_ENST00000498058.1_Missense_Mutation_p.R22H NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 22 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CGCTTCGCCCGCAAAGGCGCC 0.692000 4 234 0 0 1 0 0 SLMAP 7871 broad.mit.edu 37 3 57898112 57898112 + Silent SNP A A G TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr3:57898112A>G ENST00000295951.3 + 18 2819 c.1602A>G c.(1600-1602)caA>caG p.Q534Q SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295952.3_Silent_p.Q534Q|SLMAP_ENST00000416870.1_Silent_p.Q44Q|SLMAP_ENST00000494088.1_Silent_p.Q44Q|SLMAP_ENST00000449503.2_Silent_p.Q513Q|SLMAP_ENST00000442599.2_Silent_p.Q19Q|SLMAP_ENST00000428312.1_Silent_p.Q551Q|SLMAP_ENST00000495364.1_Silent_p.Q85Q Q14BN4 SLMAP_HUMAN sarcolemma associated protein 551 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) TTGCAGCCCAATTGCAGAGGT 0.408000 11 209 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70074189 70074189 + Silent SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr4:70074189C>T ENST00000446444.1 - 3 890 c.882G>A c.(880-882)gaG>gaA p.E294E RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 294 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCTGTACAAACTCCTCCATTT 0.398000 11 1228 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118513060 118513060 + Missense_Mutation SNP A A G TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr5:118513060A>G ENST00000311085.8 + 27 6847 c.6767A>G c.(6766-6768)cAg>cGg p.Q2256R DMXL1_ENST00000539542.1_Missense_Mutation_p.Q2256R NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2256 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) AGTTCATTTCAGACGAATCAG 0.299000 6 197 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 7 784 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70463797 70463797 + Missense_Mutation SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chrX:70463797G>A ENST00000373998.1 - 21 3975 c.3278C>T c.(3277-3279)gCc>gTc p.A1093V ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1105V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107V|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100V|ZMYM3_ENST00000489332.1_5'UTR NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1105 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) AGCTGAGCAGGCGAGAATATC 0.463000 96 108 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr7:26225102G>A ENST00000056233.3 + 4 2043 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 595 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.C595Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GCGCAGAACTGTCGTAAACGC 0.368000 5 349 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117822234 117822234 + Missense_Mutation SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr9:117822234C>T ENST00000350763.4 - 14 4492 c.4081G>A c.(4081-4083)Gat>Aat p.D1361N TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.D1270N|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.D1361N|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1361 Fibronectin type-III 9. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CTGAGGCCATCCCAGCCAACC 0.493000 5 127 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16640583 16640583 + Silent SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr19:16640583C>T ENST00000546361.2 - 8 1156 c.1005G>A c.(1003-1005)caG>caA p.Q335Q CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.Q346Q NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 335 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 gctgctgttgctgctgctgct 0.667000 4 111 0 0 1 0 0 C11orf83 790955 broad.mit.edu 37 11 62439431 62439431 + Missense_Mutation SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr11:62439431C>T ENST00000531323.1 + 3 670 c.127C>T c.(127-129)Cca>Tca p.P43S C11orf83_ENST00000377953.3_Missense_Mutation_p.P43S Q6UW78 CK083_HUMAN chromosome 11 open reading frame 83 43 extracellular region cervix(1)|lung(1)|prostate(1) 3 TCAGGAGATGCCACTGCAGGA 0.652000 4 129 0 0 1 0 0 CCDC85B 11007 broad.mit.edu 37 11 65658773 65658773 + Silent SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr11:65658773C>T ENST00000312579.2 + 1 899 c.519C>T c.(517-519)tgC>tgT p.C173C NM_006848.2 NP_006839.2 Q15834 CC85B_HUMAN coiled-coil domain containing 85B 173 cell differentiation|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus protein binding READ - Rectum adenocarcinoma(159;0.166) TGCCCCCGTGCGGGCCCCGCG 0.721000 3 38 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 9 501 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887686 12887686 + Silent SNP T T C rs59802947 by1000genomes TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:12887686T>C ENST00000535591.1 - 3 366 c.171A>G c.(169-171)agA>agG p.R57R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 57 p.R57R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGTTTCCATCTCCTGTGGG 0.468000 15 1053 0 0 1 0 0 L3HYPDH 112849 broad.mit.edu 37 14 59950906 59950906 + Silent SNP A A G TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr14:59950906A>G ENST00000247194.4 - 1 242 c.129T>C c.(127-129)tcT>tcC p.S43S RP11-701B16.2_ENST00000554253.1_RNA NM_144581.1 NP_653182.1 L-3-hydroxyproline dehydratase (trans-) GGGTGGGCCCAGACACCTCCG 0.697000 OREG0022712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 53 0 0 1 0 0 GPR27 2850 broad.mit.edu 37 3 71803791 71803791 + Silent SNP G G A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr3:71803791G>A ENST00000304411.2 + 1 591 c.591G>A c.(589-591)acG>acA p.T197T EIF4E3_ENST00000421769.2_Intron NM_018971.1 NP_061844.1 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 197 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(1)|lung(2)|ovary(1)|prostate(1) 5 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) TGGGCGCCACGCACCTCGTCT 0.746000 3 23 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43299470 43299470 + Missense_Mutation SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr21:43299470C>T ENST00000422911.1 - 1 112 c.11G>A c.(10-12)cGc>cAc p.R4H PRDM15_ENST00000398548.1_Missense_Mutation_p.R4H|PRDM15_ENST00000269844.3_Missense_Mutation_p.R4H|PRDM15_ENST00000538201.1_5'UTR P57071 PRD15_HUMAN PR domain containing 15 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 cggggggcggcggcggggcAT 0.746000 25 39 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58830668 58830668 + Silent SNP C C T rs146362585 by1000genomes TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr15:58830668C>T ENST00000414170.3 + 3 512 c.225C>T c.(223-225)tgC>tgT p.C75C LIPC_ENST00000356113.6_Silent_p.C75C|LIPC_ENST00000299022.5_Silent_p.C75C|LIPC_ENST00000433326.2_Silent_p.C75C P11150 LIPC_HUMAN lipase, hepatic 75 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity p.C75C(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TACAGGAGTGCGGCTTCAACT 0.473000 7 749 0 0 1 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52390332 52390332 + RNA SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr10:52390332C>T ENST00000443374.1 + 0 1025 CCAAAAAGGCCGTCATTTTTT 0.333000 4 125 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 11 291 --- --- --- --- SNIP1 79753 broad.mit.edu 37 1 38003368 38003370 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:38003368_38003370delTCC ENST00000296215.6 - 4 1242_1244 c.1170_1172delGGA c.(1168-1173)gaa>ga p.EE390del NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 390 Poly-Glu. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) AGACACTTCTTCCTCCTCCTCCT 0.448 9 600 --- --- --- --- NRD1 4898 broad.mit.edu 37 1 52290962 52290962 + Frame_Shift_Del DEL A A - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:52290962delA ENST00000354831.7 - 8 1426 c.1237delT c.(1237-1239)ggfs p.W413fs NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 344 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ATCTTACCCCAAAAAAATTTT 0.318 7 1104 --- --- --- --- DMRTB1 63948 broad.mit.edu 37 1 53930351 53930353 + In_Frame_Del DEL GCC GCC - rs75818218 TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:53930351_53930353delGCC ENST00000371445.3 + 3 847_849 c.792_794delGCC c.(790-795)ctg>ct p.LP264del DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 264 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 GCTACTACCTgccgccgccgccg 0.670 8 330 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103355065 103355065 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:103355065delT ENST00000358392.2 - 59 4763 c.4446delA c.(4444-4446)aafs p.K1482fs COL11A1_ENST00000370096.3_Frame_Shift_Del_p.K1470fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1470 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCGGTCACCTTTTTCCCCTT 0.408 7 644 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 8 90 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 9 89 --- --- --- --- KMO 8564 broad.mit.edu 37 1 241753558 241753558 + Frame_Shift_Del DEL A A - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr1:241753558delA ENST00000366559.4 + 14 1564 c.1253delA c.(1252-1254)cafs p.Q418fs KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs|KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 418 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) TGGCATTGGCAAAAAAAGGTT 0.313 7 705 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 7 194 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179517014 179517014 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr2:179517014delT ENST00000589042.1 - 203 39412 c.39188delA c.(39187-39189)agfs p.K13063fs TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.K11556fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K10629fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11414 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) CACTTCAGGCTTTTTAGGAGG 0.378 7 1631 --- --- --- --- DENND6A 201627 broad.mit.edu 37 3 57627438 57627438 + Frame_Shift_Del DEL A A - rs34959359 TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr3:57627438delA ENST00000311128.5 - 12 1144 c.1074delT c.(1072-1074)ttfs p.F358fs RP11-755B10.2_ENST00000470427.1_RNA NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A GTGTCTTAGCAAAAAAAGGGT 0.353 8 445 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 9 240 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90844391 90844393 + In_Frame_Del DEL AGC AGC - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr4:90844391_90844393delAGC ENST00000394980.1 + 5 1242_1244 c.923_925delAGC c.(922-927)gag>g p.EQ308del MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del Q13201 MMRN1_HUMAN multimerin 1 308 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GGAGTAGCTGAGCAGCAGCAGCA 0.448 8 1189 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190876218 190876219 + Frame_Shift_Ins INS - - AT TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr4:190876218_190876219insAT ENST00000226798.4 + 5 566_567 c.344_345insAT c.(343-345)atafs p.I115fs FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 115 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GGCTATGGAAAATATCTTGGTA 0.361 8 587 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 7 200 --- --- --- --- MOCS2 4338 broad.mit.edu 37 5 52397308 52397308 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr5:52397308delT ENST00000396954.3 - 5 935 c.258delA c.(256-258)aafs p.K86fs MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR NM_004531.3 NP_004522.1 O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 0 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) AGCTAATGACTTTTTTCCCTT 0.318 8 1820 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 7 1046 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176710903 176710903 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr5:176710903delT ENST00000439151.2 + 20 6170 c.6125delT c.(6124-6126)ctfs p.L2042fs NSD1_ENST00000361032.4_Frame_Shift_Del_p.L1939fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.L1773fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.L1773fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2042 SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CGTGTAGGCCTTTTTGCACTA 0.438 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 7 1077 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 7 713 --- --- --- --- MANEA 79694 broad.mit.edu 37 6 96034896 96034897 + Frame_Shift_Del DEL TG TG - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr6:96034896_96034897delTG ENST00000369293.1 + 2 715_716 c.581_582delTG c.(580-582)cfs p.L194fs MANEA_ENST00000358812.4_Intron Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 0 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) tgtttgtgtctgtatatatgca 0.282 17 161 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr6:129959602_129959603insT ENST00000368149.2 - 3 576_577 c.488_489insA c.(487-489)aaafs p.K163fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 163 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GGTACTGTTTGTTTTTTTTCCT 0.421 9 964 --- --- --- --- ICA1 3382 broad.mit.edu 37 7 8198251 8198251 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr7:8198251delT ENST00000402384.3 - 7 877 c.611delA c.(610-612)acfs p.N204fs ICA1_ENST00000396675.3_Frame_Shift_Del_p.N204fs|ICA1_ENST00000407906.1_Frame_Shift_Del_p.N204fs|ICA1_ENST00000401396.1_Frame_Shift_Del_p.N192fs|ICA1_ENST00000265577.7_Frame_Shift_Del_p.N203fs|ICA1_ENST00000422063.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000406470.2_Frame_Shift_Del_p.N204fs Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 204 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane p.N204fs*5(3) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TTTGTCAAAGTTTTTTTTTGC 0.378 8 563 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 11 583 --- --- --- --- RP5-905H7.3 0 broad.mit.edu 37 7 62701951 62701952 + RNA INS - - A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr7:62701951_62701952insA ENST00000451381.1 - 0 55 CTTTTTTGGAGAAAAAATATAT 0.337 7 19 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 8 59 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97736519 97736521 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr7:97736519_97736521delGCT ENST00000297293.5 + 1 323_325 c.30_32delGCT c.(28-33)agg>ag p.RL10del NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 10 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) TGCGGCGGAGGCTGCTGCTGCTG 0.764 4 7 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 9 1156 --- --- --- --- EPHA1-AS1 0 broad.mit.edu 37 7 143208738 143208738 + RNA DEL C C - rs34333193 TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr7:143208738delC ENST00000429289.1 + 0 263 NR_033897.1 CCTGCGGTGGCCCCGGCGTGC 0.667 9 13 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 7 1011 --- --- --- --- OXR1 55074 broad.mit.edu 37 8 107704955 107704955 + Splice_Site DEL G G - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr8:107704955delG ENST00000445937.1 + 7 786 c.e7-1 OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000517566.2_Splice_Site NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) AAAAAAAAAAGAATCCTGATG 0.348 11 327 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 7 535 --- --- --- --- UPF2 26019 broad.mit.edu 37 10 11990430 11990432 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr10:11990430_11990432delCTT ENST00000356352.2 - 15 3583_3585 c.3110_3112delAAG c.(3109-3114)ggt>g p.EG1037del UPF2_ENST00000397053.2_In_Frame_Del_p.EG1037del|UPF2_ENST00000357604.5_In_Frame_Del_p.EG1037del Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1037 Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) tcagccccaccttcttcttcttc 0.374 7 216 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61833451 61833453 + In_Frame_Del DEL TTC TTC - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr10:61833451_61833453delTTC ENST00000280772.1 - 37 7377_7379 c.7186_7188delGAA c.(7186-7188)del p.E2396del ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2396 Poly-Glu. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CAGCAGTAAGTTCTTCTTCTTCT 0.438 7 433 --- --- --- --- ADD3 120 broad.mit.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr10:111893350delA ENST00000277900.8 + 14 2364 c.1999delA c.(1999-2001)aafs p.K669fs ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 701 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAAAAAGAACAAAAAAAAGGA 0.333 7 593 --- --- --- --- PHRF1 57661 broad.mit.edu 37 11 592586 592588 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr11:592586_592588delGAG ENST00000264555.5 + 6 660_662 c.532_534delGAG c.(532-534)del p.E181del PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 181 Poly-Glu. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CAAAGCGAGCGAGGAGGAGGAGG 0.616 7 638 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321927 66321928 + RNA INS - - A rs141435934 TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr11:66321927_66321928insA ENST00000513398.1 + 0 566 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 gaccctgtctcaaaaaaaaaaa 0.540 5 8 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 12 568 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 18 994 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445917 49445917 + Frame_Shift_Del DEL C C - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr12:49445917delC ENST00000301067.7 - 10 1548 c.1549delG c.(1549-1551)agfs p.E517fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AAGGGCGACTCCTCCAGTGGA 0.617 117 150 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101680156 101680157 + Frame_Shift_Ins INS - - T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d 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 12 1296 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 8 106 --- --- --- --- ESD 2098 broad.mit.edu 37 13 47354112 47354112 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr13:47354112delT ENST00000378720.3 - 8 740 c.558delA c.(556-558)aafs p.K186fs ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 186 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) CACTAAAGGCTTTTTTGCCCC 0.353 7 725 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 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 p.L295fs*3(1) 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) TTCTTCATATAAAAAAAAATA 0.418 8 303 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20874475 20874477 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr14:20874475_20874477delCCT ENST00000262715.5 - 3 690_692 c.650_652delAGG c.(649-654)gtg>g p.EV217del TEP1_ENST00000556935.1_In_Frame_Del_p.EV217del NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 217 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding 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) AGATCCTCCACCTCCTCCTCCTC 0.498 7 380 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 11 157 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGAGCCTTCCGAAAAAAAACCA 0.411 10 1078 --- --- --- --- FENDRR 0 broad.mit.edu 37 16 86531072 86531073 + RNA INS - - C TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr16:86531072_86531073insC ENST00000595886.1 - 0 206 NR_033925.1 CTCCCAGGAcgccccccccgcc 0.723 3 3 --- --- --- --- FKBP10 60681 broad.mit.edu 37 17 39975559 39975559 + Frame_Shift_Del DEL C C - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr17:39975559delC ENST00000321562.4 + 5 929 c.825delC c.(823-825)ctfs p.L275fs FKBP10_ENST00000544340.1_5'UTR NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 275 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) CGCTGGAGCTCCCCCCCGGCT 0.632 11 445 --- --- --- --- PPM1D 8493 broad.mit.edu 37 17 58740624 58740624 + Frame_Shift_Del DEL A A - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr17:58740624delA ENST00000305921.3 + 6 1761 c.1529delA c.(1528-1530)cafs p.Q510fs NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 510 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity p.N512fs*2(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) GTCATGGACCAAAAAAATTTG 0.378 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 7 508 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2330586 2330587 + RNA DEL GG GG - rs111676128 TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr19:2330586_2330587delGG ENST00000452401.2 + 0 146 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAATAATGCTGGAAGGAAGGGT 0.619 3 3 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr19:12384448delA ENST00000356109.5 - 5 884 c.766delT c.(766-768)ggfs p.W256fs ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAACTGGGCCAAAAAAAGGCT 0.398 8 685 --- --- --- --- ZNF90 7643 broad.mit.edu 37 19 20216076 20216076 + Frame_Shift_Del DEL A A - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr19:20216076delA ENST00000418063.2 + 3 289 c.177delA c.(175-177)ggfs p.G59fs ZNF90_ENST00000474284.1_3'UTR NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 59 KRAB. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 TGGAGCAAGGAAAAAAACCCT 0.393 7 812 --- --- --- --- MAP3K10 4294 broad.mit.edu 37 19 40697941 40697943 + Translation_Start_Site DEL GGA GGA - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr19:40697941_40697943delGGA ENST00000253055.3 + 0 291_293 NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 CCTCCCCCATGGAGGAGGAGGAG 0.773 3 6 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 7 112 --- --- --- --- ZNF548 147694 broad.mit.edu 37 19 57908592 57908592 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr19:57908592delT ENST00000598895.1 + 3 444 c.228delT c.(226-228)ccfs p.P76fs AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000336128.7_Intron|ZNF548_ENST00000597400.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000366197.5_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron Q8NEK5 ZN548_HUMAN zinc finger protein 548 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 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;0.026) GTGTTACCCCTTTTTACCCAA 0.542 7 1247 --- --- --- --- ADNP 23394 broad.mit.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr20:49508204delT ENST00000396029.3 - 5 3614 c.3047delA c.(3046-3048)agfs p.K1016fs ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 1016 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 CATGGTAGCCTTTTTTTTGGC 0.458 12 557 --- --- --- --- LINC00478 0 broad.mit.edu 37 21 17443416 17443417 + RNA DEL TG TG - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr21:17443416_17443417delTG ENST00000458468.1 + 0 27 NR_027790.1 TTTTTCTTTTTGTGTGTGTGTG 0.431 10 580 --- --- --- --- AP000345.2 0 broad.mit.edu 37 22 23909807 23909808 + RNA DEL AG AG - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr22:23909807_23909808delAG ENST00000454863.1 + 0 261 AP000345.2_ENST00000458318.1_RNA TAAGAGGGCCagagagagagag 0.609 3 6 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120323 38120325 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr22:38120323_38120325delCCT ENST00000406386.3 + 7 2015_2017 c.1760_1762delCCT c.(1759-1764)gcc>g p.AS587del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 587 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAA 0.596 7 1182 --- --- --- --- DNAJB7 150353 broad.mit.edu 37 22 41257115 41257115 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chr22:41257115delT ENST00000307221.4 - 1 1015 c.884delA c.(883-885)agfs p.K296fs XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 296 Poly-Lys. protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 TTTACGCTTCTTTTTTTTCCT 0.378 11 699 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73046080 73046080 + RNA DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chrX:73046080delT ENST00000604411.1 + 0 34041 XIST_ENST00000429829.1_lincRNA NR_003255.2 AGCCTGGCACTTTTTTTTCCC 0.423 13 867 --- --- --- --- RNF128 79589 broad.mit.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2085545-e65e-43e7-a585-547fae15cc10 04752fa2-c71b-40f2-990a-fe04b8f4978d g.chrX:105937256delT ENST00000324342.3 + 1 189 c.24delT c.(22-24)agfs p.S8fs NM_024539.3 NP_078815.3 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 0 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 ATAGGTCCAGTTTTTTTTGGC 0.343 7 469 --- --- --- ---