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 KMT2C 58508 broad.mit.edu 37 7 151921114 151921114 + Nonsense_Mutation SNP A A T rs4024337 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:151921114A>T ENST00000355193.2 - 20 3527 c.3309T>A c.(3307-3309)tgT>tgA p.C1103* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.C1103* lysine (K)-specific methyltransferase 2C p.C1103*(10) CACATTGTCTACATTGCAGAA 0.338000 5 294 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324717 3324717 + Missense_Mutation SNP T T C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:3324717T>C ENST00000291231.1 + 1 856 c.856T>C c.(856-858)Ttc>Ctc p.F286L NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 GGTTGGGGTTTTCATGACTGT 0.512000 158 360 0 0 1 0 0 BCMO1 53630 broad.mit.edu 37 16 81303936 81303936 + Missense_Mutation SNP A A G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr16:81303936A>G ENST00000258168.2 + 7 1477 c.1016A>G c.(1015-1017)aAc>aGc p.N339S BCMO1_ENST00000425577.2_Missense_Mutation_p.N270S NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 339 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 TACCTGGCCAACCTGAACCAG 0.572000 5 258 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 9 76 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 6 928 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145311839 145311839 + Missense_Mutation SNP A A T rs58277049 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:145311839A>T ENST00000369338.1 + 10 1278 c.1088A>T c.(1087-1089)cAg>cTg p.Q363L NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000342960.5_Intron A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 636 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAGGACTCACAGGATAGATGT 0.473000 7 383 0 0 1 0 0 PRR25 388199 broad.mit.edu 37 16 863394 863394 + Missense_Mutation SNP A A G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr16:863394A>G ENST00000301698.1 + 3 742 c.742A>G c.(742-744)Acc>Gcc p.T248A NM_001013638.1 NP_001013660.1 Q96S07 PRR25_HUMAN proline rich 25 248 large_intestine(1)|lung(1)|skin(1) 3 CCCTGGGTCCACCCCGACTCC 0.687000 7 60 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136569967 136569967 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:136569967C>T ENST00000264162.2 - 7 2277 c.2267G>A c.(2266-2268)gGc>gAc p.G756D NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 756 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity p.G756D(1) breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TATGGGCATGCCATTCCCGGC 0.438000 5 354 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20169960 20169960 + RNA SNP G G A rs150674714 by1000genomes TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr15:20169960G>A ENST00000338912.5 - 0 311 CAGATCTCAGGCTGCTTAGCT 0.527000 7 748 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2092740 2092740 + Missense_Mutation SNP G G C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr8:2092740G>C ENST00000262113.4 + 37 4374 c.4233G>C c.(4231-4233)gaG>gaC p.E1411D MYOM2_ENST00000523438.1_Missense_Mutation_p.E836D|MYOM2_ENST00000520298.1_3'UTR NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1411 Ig-like C2-type 5. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TGACCTCCGAGGACTCGGGCA 0.547000 122 131 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr21:11058340A>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGGGTAAAGGAGAGAAATCTC 0.363000 30 541 0 0 1 0 0 RP2 6102 broad.mit.edu 37 X 46719499 46719499 + Missense_Mutation SNP G G C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:46719499G>C ENST00000218340.3 + 3 1006 c.845G>C c.(844-846)cGg>cCg p.R282P NM_006915.2 NP_008846.2 O75695 XRP2_HUMAN retinitis pigmentosa 2 (X-linked recessive) 282 R -> W (might play a role in retinitis pigmentosa 2; reduces affinity for ARL3 3-fold; dbSNP:rs1805147). cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception cytoplasm|plasma membrane ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding NS(1)|large_intestine(4)|lung(5)|stomach(1) 11 AGGGTTTTTCGGGAAAAAGCA 0.378000 4 241 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 6 93 0 0 1 0 0 STOML3 0 broad.mit.edu 37 13 39550704 39550704 + Missense_Mutation SNP T T C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr13:39550704T>C ENST00000379631.4 - 3 546 c.202A>G c.(202-204)Atc>Gtc p.I68V STOML3_ENST00000423210.1_Missense_Mutation_p.I59V NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 68 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) TCAGCTTGGATGCGTCCCAGA 0.458000 12 175 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7044806 7044806 + Silent SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr18:7044806G>A ENST00000389658.3 - 7 984 c.891C>T c.(889-891)tgC>tgT p.C297C NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 297 Laminin EGF-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCTCTCCCCGCAAGTATTAT 0.448000 7 719 0 0 1 0 0 TMEM106C 79022 broad.mit.edu 37 12 48359115 48359115 + Missense_Mutation SNP C C T rs146483924 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:48359115C>T ENST00000429772.2 + 3 351 c.238C>T c.(238-240)Cgc>Tgc p.R80C TMEM106C_ENST00000256686.6_Missense_Mutation_p.R80C|TMEM106C_ENST00000552561.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000449758.2_Missense_Mutation_p.R80C|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000550552.1_Missense_Mutation_p.R80C NM_001143842.1 NP_001137314.1 Q9BVX2 T106C_HUMAN transmembrane protein 106C 80 endoplasmic reticulum membrane|integral to membrane p.R80C(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) TCAGAGATTGCGCCCTCAGCG 0.408000 5 555 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318580 43318580 + Silent SNP T T A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr10:43318580T>A ENST00000374518.4 + 20 3210 c.3147T>A c.(3145-3147)tcT>tcA p.S1049S NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1049 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTTTAATTCTGCCTTGGAAG 0.403000 4 255 0 0 1 0 0 PDHA1 5160 broad.mit.edu 37 X 19369427 19369427 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:19369427G>A ENST00000379806.5 + 5 579 c.434G>A c.(433-435)gGc>gAc p.G145D PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D NM_001173454.1 NP_001166925.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 107 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) CTGGAGGCCGGCATCAACCCC 0.507000 6 966 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 69 0 0 1 0 0 DRD5 0 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T T C rs2227841 byFrequency TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:9784028T>C ENST00000304374.2 + 1 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 8 194 0 0 1 0 0 SP2 6668 broad.mit.edu 37 17 46002859 46002859 + Silent SNP A A C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:46002859A>C ENST00000376741.4 + 6 1830 c.1693A>C c.(1693-1695)Agg>Cgg p.R565R AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 565 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 CTGTGGGAAGAGGTTCACACG 0.612000 11 830 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110232234 110232234 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:110232234C>T ENST00000418703.2 - 7 1485 c.1391G>A c.(1390-1392)cGc>cAc p.R464H TRPV4_ENST00000541794.1_Missense_Mutation_p.R417H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R357H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R464H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R404H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R417H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R430H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R404H NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 464 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CCCGAACTTGCGCCACTTGTC 0.602000 5 528 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 73951097 73951097 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:73951097G>A ENST00000358602.4 - 30 7144 c.7028C>T c.(7027-7029)gCt>gTt p.A2343V ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2092V|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2230V NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2343 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AATGTTTGAAGCAAAGTTTCC 0.428000 6 670 0 0 1 0 0 CSTF3 1479 broad.mit.edu 37 11 33123878 33123878 + Missense_Mutation SNP T T G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr11:33123878T>G ENST00000323959.4 - 10 810 c.671A>C c.(670-672)gAg>gCg p.E224A TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 224 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 CATTACTGTCTCATATTCCTA 0.423000 10 196 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 6 204 0 0 1 0 0 NECAB3 63941 broad.mit.edu 37 20 32246312 32246312 + Missense_Mutation SNP C C G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr20:32246312C>G ENST00000246190.6 - 10 1096 c.1041G>C c.(1039-1041)gaG>gaC p.E347D NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.E313D NM_031232.3 NP_112509.3 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 347 ABM. antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process endoplasmic reticulum membrane|Golgi cis cisterna|nucleus calcium ion binding|oxidoreductase activity|protein binding large_intestine(3)|lung(5)|skin(2) 10 CCTGCCAGAACTCATACAGGG 0.597000 27 1032 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 176 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57603830 57603830 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:57603830G>A ENST00000243077.3 + 81 12924 c.12458G>A c.(12457-12459)cGc>cAc p.R4153H NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4153 EGF-like 16. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCATGTGACCGCAAGAAATGC 0.642000 5 422 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128470833 128470833 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:128470833G>A ENST00000325888.8 + 1 403 c.142G>A c.(142-144)Gag>Aag p.E48K FLNC_ENST00000346177.6_Missense_Mutation_p.E48K NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 48 Actin-binding.|CH 1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CTGGTGCAATGAGCACCTCAA 0.652000 52 104 0 0 1 0 0 ZNF559 84527 broad.mit.edu 37 19 9453020 9453020 + Missense_Mutation SNP T T C rs151115651 byFrequency TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:9453020T>C ENST00000393883.2 + 6 1541 c.893T>C c.(892-894)gTt>gCt p.V298A ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.V298A|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.V218A|ZNF559_ENST00000587557.1_Missense_Mutation_p.V362A|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 AAACACTATGTTTGTAATGAA 0.358000 5 573 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628320 29628320 + Nonsense_Mutation SNP G G T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr20:29628320G>T ENST00000278882.3 + 6 702 c.322G>T c.(322-324)Gaa>Taa p.E108* FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGGAGAAGAAGAAATGATCAA 0.373000 9 236 1.33834e-09 1.38852e-09 1 1 0 SLC4A7 9497 broad.mit.edu 37 3 27444674 27444674 + Silent SNP A A G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr3:27444674A>G ENST00000295736.5 - 15 2320 c.2250T>C c.(2248-2250)taT>taC p.Y750Y SLC4A7_ENST00000435667.2_Silent_p.Y635Y|SLC4A7_ENST00000446700.1_Silent_p.Y742Y|SLC4A7_ENST00000445684.1_Silent_p.Y746Y|SLC4A7_ENST00000428386.1_Silent_p.Y626Y|SLC4A7_ENST00000440156.1_Silent_p.Y746Y|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000388777.4_Silent_p.Y300Y|SLC4A7_ENST00000454389.1_Silent_p.Y759Y|SLC4A7_ENST00000455077.1_Silent_p.Y631Y|SLC4A7_ENST00000437179.1_Silent_p.Y631Y NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 750 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 TATTAAATGCATATGTTTCTC 0.343000 55 516 0 0 1 0 0 TFG 10342 broad.mit.edu 37 3 100467317 100467317 + Missense_Mutation SNP C C T rs138185005 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr3:100467317C>T ENST00000240851.4 + 8 1485 c.1145C>T c.(1144-1146)gCg>gTg p.A382V TFG_ENST00000476228.1_Missense_Mutation_p.A378V|TFG_ENST00000490574.1_Missense_Mutation_p.A382V|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000418917.2_Missense_Mutation_p.A378V NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 382 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 AATCCTTATGCGCGTAACCGT 0.517000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 5 404 0 0 1 0 0 ZNF555 148254 broad.mit.edu 37 19 2852432 2852432 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:2852432C>T ENST00000334241.4 + 4 507 c.369C>T c.(367-369)gcC>gcT p.A123A ZNF555_ENST00000591539.1_Silent_p.A122A|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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) GTGGAGAAGCCCTCAGCCAGA 0.378000 4 273 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50532454 50532454 + Nonsense_Mutation SNP G G T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr10:50532454G>T ENST00000374144.3 + 3 2152 c.1864G>T c.(1864-1866)Gag>Tag p.E622* C10orf71_ENST00000323868.4_Nonsense_Mutation_p.E622* Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 622 endometrium(1) 1 GGTGGAAGGAGAGTTGGAGAT 0.552000 40 40 1.52319e-26 1.62083e-26 1 1 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 6 384 0 0 1 0 0 XYLT2 64132 broad.mit.edu 37 17 48432344 48432344 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:48432344C>T ENST00000017003.2 + 4 983 c.934C>T c.(934-936)Cgg>Tgg p.R312W XYLT2_ENST00000507602.1_Missense_Mutation_p.R312W NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 312 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) GCGGAGCATGCGGGACCTGCT 0.632000 6 494 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40752940 40752940 + Missense_Mutation SNP C C G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:40752940C>G ENST00000381782.2 + 2 725 c.230C>G c.(229-231)tCc>tGc p.S77C NSUN7_ENST00000316607.5_Missense_Mutation_p.S77C NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 CCCCTGCGGTCCTTGTCCGAG 0.468000 152 356 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 11 73 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144828704 144828704 + Missense_Mutation SNP T T G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:144828704T>G ENST00000338347.4 + 14 1750 c.1750T>G c.(1750-1752)Tac>Gac p.Y584D NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D|NBPF9_ENST00000468645.1_3'UTR neuroblastoma breakpoint family, member 9 p.L657L(3)|p.Y584D(1) NS(2)|prostate(1) 3 CTTCGCCCTTTACGTGGACAA 0.438000 7 645 0 0 1 0 0 AKT3 10000 broad.mit.edu 37 1 243736307 243736307 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:243736307C>T ENST00000366539.1 - 9 940 c.740G>A c.(739-741)cGc>cAc p.R247H AKT3_ENST00000336199.5_Missense_Mutation_p.R247H|AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000263826.5_Missense_Mutation_p.R247H Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 247 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) GAAACGTGTGCGGTCCTCAGA 0.418000 4 245 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 6 798 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72981280 72981280 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr8:72981280C>T ENST00000262209.4 - 3 629 c.422G>A c.(421-423)gGc>gAc p.G141D NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 141 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) ATTATTCATGCCCTGCACAGC 0.517000 6 756 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28233300 28233300 + Missense_Mutation SNP C C G rs140950719 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr10:28233300C>G ENST00000305242.5 - 12 1686 c.1594G>C c.(1594-1596)Gtt>Ctt p.V532L ARMC4_ENST00000537576.1_Missense_Mutation_p.V224L|ARMC4_ENST00000545014.1_Missense_Mutation_p.V57L NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 532 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CCAAGGTCAACAATATTCTGT 0.378000 7 290 0 0 1 0 0 CBWD2 150472 broad.mit.edu 37 2 114212353 114212353 + Missense_Mutation SNP A A C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:114212353A>C ENST00000433343.2 + 7 730 c.418A>C c.(418-420)Aaa>Caa p.K140Q CBWD2_ENST00000416503.2_Missense_Mutation_p.K176Q|CBWD2_ENST00000259199.4_Missense_Mutation_p.K176Q Q8IUF1 CBWD2_HUMAN COBW domain containing 2 176 ATP binding|protein binding endometrium(1)|lung(1) 2 ATATGGATTAAAAGTAAGTTG 0.269000 4 223 0 0 1 0 0 CDK20 23552 broad.mit.edu 37 9 90585722 90585722 + Missense_Mutation SNP T T G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr9:90585722T>G ENST00000375883.3 - 4 775 c.469A>C c.(469-471)Agc>Cgc p.S157R CDK20_ENST00000336654.5_Missense_Mutation_p.S170R|CDK20_ENST00000375871.4_Missense_Mutation_p.S157R|CDK20_ENST00000325303.8_Missense_Mutation_p.S157R|CDK20_ENST00000605159.1_Missense_Mutation_p.S157R NM_001170639.1|NM_012119.4|NM_178432.3 NP_001164110.1|NP_036251.2|NP_848519.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 157 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 TAGAGGCGGCTGCCGTCTGGG 0.597000 5 192 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 7 551 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107867515 107867515 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:107867515C>T ENST00000370067.1 + 3 1485 c.858C>T c.(856-858)taC>taT p.Y286Y NTNG1_ENST00000370070.2_Silent_p.Y286Y|NTNG1_ENST00000370074.4_Silent_p.Y286Y|NTNG1_ENST00000370072.3_Silent_p.Y286Y|NTNG1_ENST00000370073.2_Silent_p.Y286Y|NTNG1_ENST00000370071.2_Silent_p.Y286Y|NTNG1_ENST00000542803.1_Silent_p.Y286Y|NTNG1_ENST00000370061.3_Silent_p.Y286Y|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370065.1_Silent_p.Y286Y|NTNG1_ENST00000370066.1_Silent_p.Y286Y|NTNG1_ENST00000370068.1_Silent_p.Y286Y Q9Y2I2 NTNG1_HUMAN netrin G1 286 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding p.Y286*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GCTACTTTTACGCGATCTCAG 0.458000 137 138 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93108681 93108681 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:93108681C>T ENST00000359558.2 - 5 543 c.244G>A c.(244-246)Gca>Aca p.A82T CALCR_ENST00000360249.4_Missense_Mutation_p.A64T|CALCR_ENST00000426151.1_Missense_Mutation_p.A64T|CALCR_ENST00000394441.1_Missense_Mutation_p.A64T|CALCR_ENST00000421592.1_Missense_Mutation_p.A64T NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 64 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CCTTGGTATGCGGGTAACTGC 0.373000 6 772 0 0 1 0 0 TDRD10 126668 broad.mit.edu 37 1 154515294 154515294 + Missense_Mutation SNP T T C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:154515294T>C ENST00000368482.4 + 8 1338 c.500T>C c.(499-501)aTg>aCg p.M167T TDRD10_ENST00000368480.3_Missense_Mutation_p.M167T|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 167 nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CCGTTGGAAATGAGGTGAGCA 0.512000 73 75 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93837734 93837734 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr11:93837734G>A ENST00000315765.9 + 16 2731 c.2723G>A c.(2722-2724)cGa>cAa p.R908Q NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 908 copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATTACATGCCGAAAAGGAGTC 0.333000 4 146 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 5 704 0 0 1 0 0 PAPL 0 broad.mit.edu 37 19 39590923 39590923 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:39590923C>T ENST00000331256.5 + 5 836 c.562C>T c.(562-564)Cgg>Tgg p.R188W PAPL_ENST00000594229.1_Intron NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 188 extracellular region acid phosphatase activity|metal ion binding TAGGTTCATGCGGCTCATTGA 0.627000 5 499 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 4 84 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389323 1389323 + Missense_Mutation SNP G G A rs71299249 byFrequency TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:1389323G>A ENST00000324803.4 + 1 3984 c.1024G>A c.(1024-1026)Gcc>Acc p.A342T NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 342 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGGAGTGCCCGCCTGCTCACA 0.667000 17 1381 0 0 1 0 0 MRPL14 64928 broad.mit.edu 37 6 44081762 44081762 + Missense_Mutation SNP T T C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr6:44081762T>C ENST00000372014.3 - 3 387 c.256A>G c.(256-258)Att>Gtt p.I86V NM_032111.2 NP_115487.2 Q6P1L8 RM14_HUMAN mitochondrial ribosomal protein L14 86 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181) TGCCCCACAATGAGCGCCTTT 0.562000 379 361 0 0 1 0 0 GET4 51608 broad.mit.edu 37 7 927043 927043 + Missense_Mutation SNP A A C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:927043A>C ENST00000407192.1 + 3 2711 c.194A>C c.(193-195)aAc>aCc p.N65T GET4_ENST00000265857.3_Missense_Mutation_p.N118T Q7L5D6 GET4_HUMAN golgi to ER traffic protein 4 homolog (S. cerevisiae) 118 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ATGGACCCCAACTCTCCTGAG 0.617000 6 517 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 19 52 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 14 297 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113115480 113115480 + Missense_Mutation SNP G G A rs145391746 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr3:113115480G>A ENST00000393845.2 - 14 1730 c.1664C>T c.(1663-1665)gCg>gTg p.A555V WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.A555V NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 555 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 CTTCCGTCCCGCAAAAATCGT 0.398000 5 287 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118525452 118525452 + Silent SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr5:118525452G>A ENST00000311085.8 + 29 7265 c.7185G>A c.(7183-7185)ccG>ccA p.P2395P DMXL1_ENST00000539542.1_Silent_p.P2395P NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2395 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) GTTTTAGGCCGTCAAAAATGT 0.408000 6 687 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651241 1651241 + Silent SNP A A C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr11:1651241A>C ENST00000399676.2 + 1 209 c.171A>C c.(169-171)ggA>ggC p.G57G NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 57 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) gctgtgggggatgtggctccg 0.682000 14 288 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366540 248366540 + Silent SNP C C A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:248366540C>A ENST00000456743.1 + 1 209 c.171C>A c.(169-171)acC>acA p.T57T NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGCTCCACACCCCCATGTACC 0.542000 16 932 2.32078e-09 2.39286e-09 1 1 0 AHCYL2 23382 broad.mit.edu 37 7 129046281 129046281 + Silent SNP T T C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:129046281T>C ENST00000325006.3 + 10 1323 c.1269T>C c.(1267-1269)atT>atC p.I423I AHCYL2_ENST00000531335.2_Silent_p.I342I|AHCYL2_ENST00000490911.1_Silent_p.I320I|AHCYL2_ENST00000474594.1_Silent_p.I320I|AHCYL2_ENST00000446544.2_Silent_p.I422I|AHCYL2_ENST00000446212.1_Silent_p.I321I NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 423 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 TAACTGAAATTGACCCCATCT 0.517000 5 581 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223176649 223176649 + Missense_Mutation SNP C C T rs148231227 by1000genomes TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:223176649C>T ENST00000284476.6 + 8 2074 c.1910C>T c.(1909-1911)gCg>gTg p.A637V NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 637 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity p.A637V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GGGGTTTATGCGGGGACAGCT 0.448000 5 654 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10914388 10914388 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr21:10914388G>A ENST00000298232.7 - 20 1644 c.1277C>T c.(1276-1278)tCc>tTc p.S426F TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S406F|TPTE_ENST00000361285.4_Missense_Mutation_p.S444F NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 444 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGAAATAGTGGAAAAGACAAC 0.328000 9 160 0 0 1 0 0 LILRA2 0 broad.mit.edu 37 19 55086927 55086927 + Missense_Mutation SNP C C G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:55086927C>G ENST00000251377.3 + 6 993 c.860C>G c.(859-861)cCc>cGc p.P287R LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CCTGTGAGCCCCTCCCACGGG 0.637000 9 414 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 6 225 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7840299 7840299 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:7840299C>T ENST00000420658.1 - 6 950 c.678G>A c.(676-678)ccG>ccA p.P226P AFAP1_ENST00000382543.3_Silent_p.P226P|AFAP1_ENST00000358461.2_Silent_p.P226P|AFAP1_ENST00000360265.4_Silent_p.P226P NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 226 PH 1. actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CGAGAACAAGCGGGTCCGTGC 0.517000 8 509 0 0 1 0 0 CYP2E1 1571 broad.mit.edu 37 10 135346341 135346341 + Missense_Mutation SNP T T C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr10:135346341T>C ENST00000463117.2 + 7 1066 c.794T>C c.(793-795)cTc>cCc p.L265P CYP2E1_ENST00000252945.3_Missense_Mutation_p.L265P|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 265 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) CCCCGGGACCTCACCGACTGC 0.517000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 4 234 0 0 1 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60036335 60036335 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr18:60036335C>T ENST00000586569.1 + 9 1223 c.1185C>T c.(1183-1185)agC>agT p.S395S TNFRSF11A_ENST00000269485.7_Intron NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 395 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) GGACACAGAGCACAGTGGGTT 0.532000 21 274 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23926745 23926745 + Missense_Mutation SNP C C A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:23926745C>A ENST00000402377.3 - 4 1748 c.1607G>T c.(1606-1608)tGt>tTt p.C536F ZNF681_ENST00000395385.3_Missense_Mutation_p.C467F NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 536 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACATTCTTCACATGTGTAGGG 0.378000 88 244 1.27451e-61 1.36496e-61 1 1 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 4 352 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 5 102 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129854107 129854107 + Missense_Mutation SNP C C T rs140507856 byFrequency TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr9:129854107C>T ENST00000373425.3 - 4 1741 c.1124G>A c.(1123-1125)cGc>cAc p.R375H ANGPTL2_ENST00000373417.1_Missense_Mutation_p.R73H|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 375 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 AAAGACTTTGCGGCCGGACCA 0.547000 9 1388 0 0 1 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59982897 59982897 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr5:59982897C>T ENST00000265036.5 - 2 273 c.206G>A c.(205-207)cGc>cAc p.R69H DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R42H|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R69H NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 69 DEP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) CGTTTGTTTGCGGGTCACTTC 0.473000 5 630 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 9 597 0 0 1 0 0 HTRA2 27429 broad.mit.edu 37 2 74759839 74759839 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:74759839C>T ENST00000258080.3 + 7 1839 c.1209C>T c.(1207-1209)caC>caT p.H403H LOXL3_ENST00000409249.1_3'UTR|HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron|LOXL3_ENST00000264094.3_3'UTR NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 403 PDZ. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 CCCCTGCACACCGGTGAGGGA 0.507000 11 214 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17648272 17648272 + Missense_Mutation SNP T T G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:17648272T>G ENST00000335393.4 + 6 746 c.608T>G c.(607-609)cTc>cGc p.L203R FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000352727.3_Missense_Mutation_p.L203R|FAM129C_ENST00000300971.2_Missense_Mutation_p.L203R|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000332386.5_Missense_Mutation_p.L203R|FAM129C_ENST00000595684.1_Missense_Mutation_p.L203R|FAM129C_ENST00000601861.1_Missense_Mutation_p.L172R|FAM129C_ENST00000599124.1_Missense_Mutation_p.L172R|FAM129C_ENST00000599164.1_Missense_Mutation_p.L172R|FAM129C_ENST00000600871.1_Missense_Mutation_p.L149R NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 203 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 CGCCGGCACCTCTGCTTCTCT 0.617000 222 399 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_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 6 171 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2666233 2666233 + Splice_Site SNP T T C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr18:2666233T>C ENST00000320876.6 + 2 600 c.e2+2 SMCHD1_ENST00000261598.8_Splice_Site NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 ATAATTTTGGTAGGTAAACAG 0.264000 35 66 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1687905 1687905 + Missense_Mutation SNP C C G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:1687905C>G ENST00000252804.4 - 5 485 c.435G>C c.(433-435)caG>caC p.Q145H NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 145 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AAGTTTCTATCTGATTAAAGT 0.393000 11 14 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 4 86 0 0 1 0 0 RAET1G 353091 broad.mit.edu 37 6 150240238 150240238 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr6:150240238G>A ENST00000367360.2 - 3 639 c.572C>T c.(571-573)aCa>aTa p.T191I RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.1_ENST00000446954.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.T191I|RP11-244K5.8_ENST00000606915.1_RNA NM_001001788.2 NP_001001788.2 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G 191 MHC class I alpha-2 like. antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1) 13 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) AAGCCATCCTGTGCAGTCTCC 0.483000 8 483 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137476420 137476420 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr5:137476420G>A ENST00000254900.5 - 26 3960 c.3589C>T c.(3589-3591)Cgg>Tgg p.R1197W NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 1197 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ACTTCTTGCCGCATCTCCACA 0.453000 6 886 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63667482 63667482 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr11:63667482G>A ENST00000402010.2 + 8 1247 c.668G>A c.(667-669)gGc>gAc p.G223D MARK2_ENST00000377809.4_Missense_Mutation_p.G223D|MARK2_ENST00000361128.5_Missense_Mutation_p.G223D|MARK2_ENST00000377810.3_Missense_Mutation_p.G190D|MARK2_ENST00000425897.2_Missense_Mutation_p.G190D|MARK2_ENST00000350490.7_Missense_Mutation_p.G223D|MARK2_ENST00000513765.2_Missense_Mutation_p.G190D|MARK2_ENST00000509502.2_Missense_Mutation_p.G190D|MARK2_ENST00000408948.3_Missense_Mutation_p.G190D|MARK2_ENST00000508192.1_Missense_Mutation_p.G223D|MARK2_ENST00000315032.8_Missense_Mutation_p.G223D|MARK2_ENST00000502399.3_Missense_Mutation_p.G223D|MARK2_ENST00000413835.2_Missense_Mutation_p.G223D NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 223 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CTCTTCCAGGGCAAAAAATAT 0.502000 6 665 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 103988220 103988220 + Missense_Mutation SNP G G A rs146698695 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:103988220G>A ENST00000388887.2 + 3 467 c.263G>A c.(262-264)cGc>cAc p.R88H NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 88 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCCGGATGCCGCCATATTTGT 0.502000 8 762 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169562853 169562853 + Silent SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:169562853G>A ENST00000263686.6 - 14 2434 c.2397C>T c.(2395-2397)ttC>ttT p.F799F SELP_ENST00000367794.2_Silent_p.F737F|SELP_ENST00000367793.2_Silent_p.F737F|SELP_ENST00000458599.2_Silent_p.F615F|SELP_ENST00000367792.2_Silent_p.F615F|SELP_ENST00000367791.2_Silent_p.F613F|SELP_ENST00000367786.2_Silent_p.F737F|SELP_ENST00000367788.2_Silent_p.F737F NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 799 platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CTTTTTGTCTGAAACGCTTTC 0.423000 14 158 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:3649787T>C ENST00000382622.3 + 2 481 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 28 271 0 0 1 0 0 PAK2 5062 broad.mit.edu 37 3 196529917 196529917 + Silent SNP A A G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr3:196529917A>G ENST00000327134.3 + 4 640 c.318A>G c.(316-318)ctA>ctG p.L106L NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 106 Autoregulatory region (By similarity).|GTPase-binding (By similarity). axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CTCGATTACTACAGACCTCCA 0.378000 5 187 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr21:11058168A>T ENST00000470054.1 - 0 479 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACATCTTTCAGGAGCTTGGT 0.388000 7 439 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296403 145296403 + Silent SNP C C T rs4996269 by1000genomes TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:145296403C>T ENST00000342960.5 + 3 360 c.325C>T c.(325-327)Cta>Tta p.L109L NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 109 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCTGACCCAGCTAAGGGAGAA 0.517000 10 860 0 0 1 0 0 SLC6A8 6535 broad.mit.edu 37 X 152959611 152959611 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:152959611C>T ENST00000253122.5 + 9 1757 c.1281C>T c.(1279-1281)acC>acT p.T427T SLC6A8_ENST00000430077.2_Silent_p.T312T|SLC6A8_ENST00000485324.1_3'UTR NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 427 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) GCTTCATCACCGGCCTCCTCG 0.632000 51 630 0 0 1 0 0 EBPL 84650 broad.mit.edu 37 13 50235160 50235160 + Missense_Mutation SNP G G C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr13:50235160G>C ENST00000242827.6 - 4 615 c.565C>G c.(565-567)Cta>Gta p.L189V EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_3'UTR NM_032565.3 NP_115954.1 Q9BY08 EBPL_HUMAN emopamil binding protein-like 189 sterol metabolic process endoplasmic reticulum membrane|integral to membrane cholestenol delta-isomerase activity p.L189V(9) endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.06e-09) TTGAGTTCTAGCCATGACTGC 0.418000 4 174 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 7 764 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220480840 220480840 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:220480840C>T ENST00000456909.1 + 25 3282 c.3192C>T c.(3190-3192)atC>atT p.I1064I STK11IP_ENST00000295641.10_Silent_p.I1075I Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 1075 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGCCTGGATCCGGGAACCAT 0.627000 4 136 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 8 1377 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179414391 179414391 + Silent SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:179414391G>A ENST00000589042.1 - 338 92282 c.92058C>T c.(92056-92058)aaC>aaT p.N30686N TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.N21621N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.N29045N|TTN_ENST00000359218.5_Silent_p.N21746N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.N21813N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.N28118N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29045 Ig-like 138. 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) ATTCATTGCCGTTTATTAGTT 0.413000 6 348 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11543659 11543659 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:11543659G>A ENST00000262442.3 + 10 1927 c.1859G>A c.(1858-1860)cGc>cAc p.R620H DNAH9_ENST00000454412.2_Missense_Mutation_p.R620H NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 620 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGAGGCAGCGCATCCAGGGT 0.582000 7 737 0 0 1 0 0 ARL4C 10123 broad.mit.edu 37 2 235404735 235404735 + Missense_Mutation SNP C C G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:235404735C>G ENST00000390645.2 - 1 962 c.496G>C c.(496-498)Gag>Cag p.E166Q ARL4C_ENST00000339728.3_Missense_Mutation_p.E166Q NM_005737.3 NP_005728.2 P56559 ARL4C_HUMAN ADP-ribosylation factor-like 4C 166 endocytic recycling|small GTPase mediated signal transduction cytoplasm|filopodium|nucleus|plasma membrane alpha-tubulin binding|GTP binding|GTPase activity endometrium(1)|ovary(1)|skin(1)|urinary_tract(1) 4 Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173) Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048) GTGAGGCCCTCGCCGATGATG 0.617000 95 106 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128528422 128528422 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:128528422C>T ENST00000322313.4 - 2 292 c.134G>A c.(133-135)gGa>gAa p.G45E WDR33_ENST00000409658.3_Missense_Mutation_p.G45E|WDR33_ENST00000393006.1_Missense_Mutation_p.G45E NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 45 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CATTCGTTTTCCATCAAAAGT 0.418000 83 151 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135390519 135390519 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr5:135390519G>A ENST00000442011.2 + 10 1540 c.1379G>A c.(1378-1380)gGc>gAc p.G460D TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 460 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding p.G460D(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTCTGGGCGGCAAAAAACTG 0.423000 9 1048 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871076 170871076 + Silent SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr6:170871076G>A ENST00000392092.2 + 3 531 c.252G>A c.(250-252)caG>caA p.Q84Q TBP_ENST00000540980.1_Silent_p.Q64Q|TBP_ENST00000230354.6_Silent_p.Q84Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 84 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q84Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.602000 7 89 0 0 1 0 0 HKR1 284459 broad.mit.edu 37 19 37853831 37853831 + Silent SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:37853831G>A ENST00000591471.1 + 9 1956 c.315G>A c.(313-315)gcG>gcA p.A105A HKR1_ENST00000589392.1_Silent_p.A360A|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Silent_p.A378A|HKR1_ENST00000392153.3_Silent_p.A359A|HKR1_ENST00000541583.2_Silent_p.A317A|HKR1_ENST00000544914.1_Silent_p.A105A P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 378 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACCAGAGGGCGCACACTGGGG 0.532000 6 510 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54074910 54074910 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:54074910C>T ENST00000253144.9 + 6 1395 c.62C>T c.(61-63)gCc>gTc p.A21V ZNF331_ENST00000513265.1_Missense_Mutation_p.A21V|ZNF331_ENST00000513999.1_Missense_Mutation_p.A21V|ZNF331_ENST00000449416.1_Missense_Mutation_p.A21V|ZNF331_ENST00000511154.1_Missense_Mutation_p.A21V|ZNF331_ENST00000411977.2_Missense_Mutation_p.A21V|ZNF331_ENST00000511593.2_Missense_Mutation_p.A21V|ZNF331_ENST00000512387.1_Missense_Mutation_p.A21V NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GAGGAGTGGGCCTGTCTGAAC 0.502000 T ? follicular thyroid adenoma 69 1047 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7615219 7615219 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:7615219C>T ENST00000221249.6 + 18 2164 c.1733C>T c.(1732-1734)gCg>gTg p.A578V PNPLA6_ENST00000414982.3_Missense_Mutation_p.A626V|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A578V|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000600737.1_Missense_Mutation_p.A617V|PNPLA6_ENST00000545201.2_Missense_Mutation_p.A552V NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 617 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GTGCTGAGTGCGGCGCACACG 0.642000 48 564 0 0 1 0 0 MIR509-1 0 broad.mit.edu 37 X 146342142 146342142 + RNA SNP T T A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:146342142T>A ENST00000385265.1 - 0 1 NR_030236.1|NR_030586.1 ACACACAGCATGTCTGAGGAT 0.433000 8 1407 0 0 1 0 0 HEY1 23462 broad.mit.edu 37 8 80677993 80677993 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr8:80677993C>T ENST00000337919.5 - 5 550 c.357G>A c.(355-357)gcG>gcA p.A119A HEY1_ENST00000354724.3_Silent_p.A115A|HEY1_ENST00000523976.1_Silent_p.A25A|HEY1_ENST00000435063.2_5'UTR NM_001040708.1 NP_001035798.1 Q9Y5J3 HEY1_HUMAN hes-related family bHLH transcription factor with YRPW motif 1 115 angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding p.A115A(2)|p.A119A(1) HEY1/NCOA2(10) cervix(1)|kidney(2)|large_intestine(5)|lung(14) 22 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) CAAGGGCGTGCGCGTCAAAGT 0.488000 T NCOA2 mesenchymal chondrosarcoma OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 180 0 0 1 0 0 BMPR1A 657 broad.mit.edu 37 10 88649818 88649818 + Splice_Site SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr10:88649818G>A ENST00000372037.2 + 4 604 c.e4-1 BMPR1A_ENST00000480152.1_Splice_Site NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 TTTGAATGCAGGACAGAATCT 0.363000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 108 121 0 0 1 0 0 SHMT2 6472 broad.mit.edu 37 12 57624691 57624691 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:57624691G>A ENST00000328923.3 + 2 591 c.139G>A c.(139-141)Gag>Aag p.E47K SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Missense_Mutation_p.E26K|SHMT2_ENST00000449049.3_Missense_Mutation_p.E26K|SHMT2_ENST00000393827.4_5'UTR|SHMT2_ENST00000557487.1_Missense_Mutation_p.E47K|SHMT2_ENST00000553474.1_Missense_Mutation_p.E26K NM_001166356.1|NM_005412.5 NP_001159828.1|NP_005403.2 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 47 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GACAGGCCAGGAGAGCCTGTC 0.617000 7 638 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998635 72998635 + Missense_Mutation SNP C C A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr18:72998635C>A ENST00000322038.5 + 2 1722 c.1138C>A c.(1138-1140)Cac>Aac p.H380N TSHZ1_ENST00000580243.1_Missense_Mutation_p.H425N NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 425 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) TGGCAGCTCCCACGACACGCT 0.597000 68 157 3.61411e-23 3.82129e-23 1 1 0 H3F3C 440093 broad.mit.edu 37 12 31944965 31944965 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:31944965C>T ENST00000340398.3 - 1 210 c.136G>A c.(136-138)Gtg>Atg p.V46M NM_001013699.2 NP_001013721.2 Q6NXT2 H3C_HUMAN H3 histone, family 3C 46 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 CGAAGCGCCACGGTCCCAGGC 0.607000 HNSCC(67;0.2) 126 232 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77797280 77797280 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:77797280C>T ENST00000354212.4 - 15 2802 c.2549G>A c.(2548-2550)cGc>cAc p.R850H MAGI2_ENST00000522391.1_Missense_Mutation_p.R850H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R836H NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 850 PDZ 4. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTGCCCATTGCGGGCTGCGTG 0.547000 7 842 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73562521 73562521 + Nonsense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr15:73562521C>T ENST00000339362.5 + 18 3112 c.2665C>T c.(2665-2667)Cga>Tga p.R889* NEO1_ENST00000261908.6_Nonsense_Mutation_p.R889*|NEO1_ENST00000558964.1_Nonsense_Mutation_p.R889*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.R889* Q92859 NEO1_HUMAN neogenin 1 889 Fibronectin type-III 5. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 TACAGACTCCCGATACTACAC 0.488000 156 168 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 5 219 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42849820 42849820 + Nonsense_Mutation SNP A A T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:42849820A>T ENST00000200557.6 + 8 833 c.664A>T c.(664-666)Aga>Tga p.R222* ADAM11_ENST00000535346.1_Missense_Mutation_p.E23V NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 222 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) GCCGAGGCTGAGAAGGAAAAG 0.706000 3 39 0 0 1 0 0 INTS4 92105 broad.mit.edu 37 11 77614629 77614629 + Missense_Mutation SNP A A G TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr11:77614629A>G ENST00000534064.1 - 17 2088 c.2054T>C c.(2053-2055)tTg>tCg p.L685S INTS4_ENST00000535943.1_Missense_Mutation_p.L60S|AAMDC_ENST00000532481.1_Intron NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 685 snRNA processing integrator complex protein binding p.L685S(3) INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CTTCAAATACAAAGGGGCAGC 0.478000 4 113 0 0 1 0 0 LILRA2 0 broad.mit.edu 37 19 55086932 55086932 + Missense_Mutation SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:55086932C>T ENST00000251377.3 + 6 998 c.865C>T c.(865-867)Cac>Tac p.H289Y LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.H289Y(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GAGCCCCTCCCACGGGGGCCA 0.647000 9 411 0 0 1 0 0 CDC23 8697 broad.mit.edu 37 5 137548883 137548883 + Missense_Mutation SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr5:137548883G>A ENST00000394886.2 - 1 149 c.119C>T c.(118-120)gCg>gTg p.A40V CDC23_ENST00000505120.1_Missense_Mutation_p.A40V|CDC23_ENST00000394884.3_Missense_Mutation_p.A40V NM_004661.3 NP_004652.2 Q9UJX2 CDC23_HUMAN cell division cycle 23 40 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGTAAGGCCCGCAATAAGCAG 0.572000 6 591 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871070 170871070 + Silent SNP G G A rs142508797 byFrequency TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr6:170871070G>A ENST00000392092.2 + 3 525 c.246G>A c.(244-246)caG>caA p.Q82Q TBP_ENST00000540980.1_Silent_p.Q62Q|TBP_ENST00000230354.6_Silent_p.Q82Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 82 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.587000 4 96 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71790685 71790685 + Silent SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr18:71790685G>A ENST00000269500.5 - 8 1163 c.828C>T c.(826-828)caC>caT p.H276H FBXO15_ENST00000419743.2_Silent_p.H352H NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 276 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) GTTGGTAGCCGTGCAGTCCAT 0.443000 6 327 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 9 241 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33411215 33411215 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr6:33411215C>T ENST00000418600.2 + 15 2987 c.2886C>T c.(2884-2886)caC>caT p.H962H SYNGAP1_ENST00000293748.5_Silent_p.H962H|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.H903H NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 962 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 accaccaccaccatcaccacc 0.657000 6 551 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 221 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144075960 144075960 + Splice_Site SNP G G A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:144075960G>A ENST00000056217.5 + 14 4810 c.e14+1 ARHGEF5_ENST00000471847.2_Splice_Site NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) AGCAGTGACGGTAAGCGGGAG 0.587000 6 599 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + RNA SNP G G A rs8130203 by1000genomes TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr21:11058248G>A ENST00000470054.1 - 0 399 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAGCACAAGGATAATGATAC 0.433000 11 516 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 11 633 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47310359 47310360 + RNA INS - - T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:47310359_47310360insT ENST00000505841.1 - 0 1269 NR_002788.2 CAAAAACAAAACCCTAGATATT 0.421 11 56 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 8 276 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 7 356 --- --- --- --- EPS8L3 79574 broad.mit.edu 37 1 110300579 110300580 + Frame_Shift_Ins INS - - T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:110300579_110300580insT ENST00000369805.3 - 9 1050_1051 c.821_822insA c.(820-822)aaafs p.K274fs EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 273 cytoplasm protein binding p.N274fs*33(2) breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CCTGGTCCTTGTTTTTTTTCCC 0.545 7 406 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 12 215 --- --- --- --- SPRR4 163778 broad.mit.edu 37 1 152944390 152944392 + In_Frame_Del DEL GCA GCA - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:152944390_152944392delGCA ENST00000328051.2 + 2 73_75 c.24_26delGCA c.(22-27)cgg>cg p.RQ8del NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 8 Gln-rich. keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) agcagcagcggcagcagcagcag 0.552 7 576 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 8 304 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 7 230 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 7 554 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 8 226 --- --- --- --- PLA2R1 0 broad.mit.edu 37 2 160801441 160801442 + Frame_Shift_Ins INS - - T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:160801441_160801442insT ENST00000283243.7 - 28 4325_4326 c.4119_4120insA c.(4117-4122)aagcttfs p.L1374fs PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1374 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CATATAAAGCCTTTTTTTTCTT 0.401 7 501 --- --- --- --- RBM45 129831 broad.mit.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr2:178988920delA ENST00000286070.5 + 8 1227 c.1135delA c.(1135-1137)aafs p.K381fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 383 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding p.A382fs*7(2)|p.?(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TCCATCATGCAAAAAAAAAGC 0.353 10 381 --- --- --- --- PDCD6IP 10015 broad.mit.edu 37 3 33866811 33866811 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr3:33866811delT ENST00000307296.3 + 5 972 c.595delT c.(595-597)ttfs p.F200fs PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 200 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TCAAGAAGTATTTTTTTTAAA 0.368 7 441 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr3:42679035_42679036insC ENST00000232978.8 + 13 2027_2028 c.1839_1840insC c.(1837-1842)agccccfs p.SP613fs RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 613 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TGAGTGACAGTCCCCCCCCTTC 0.421 10 605 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 7 223 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 13 382 --- --- --- --- ABCC5 10057 broad.mit.edu 37 3 183665256 183665257 + Frame_Shift_Ins INS - - A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr3:183665256_183665257insA ENST00000334444.6 - 23 3509_3510 c.3269_3270insT c.(3268-3270)tttfs p.F1090fs ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.F1047fs NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1090 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CACACGTAAACAAAAAAAAAGG 0.530 7 106 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 7 449 --- --- --- --- CCKAR 886 broad.mit.edu 37 4 26483672 26483674 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:26483672_26483674delCTG ENST00000295589.3 - 5 1067_1069 c.873_875delCAG c.(871-876)agg>ag p.SR291del NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 291 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GCGGTTGGCCCTGCTGCTGCTGC 0.606 8 700 --- --- --- --- UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - - A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:39515752_39515753insA ENST00000316423.6 - 3 556_557 c.214_215insT c.(214-216)tacfs p.Y72fs UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity p.S72fs*18(1) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 13 730 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 760 Gln-rich. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) cctgggagctctgctgctgctgc 0.512 10 316 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 11 231 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 10 416 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412094 105412096 + In_Frame_Del DEL GAG GAG - rs146939312 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:105412094_105412096delGAG ENST00000394767.2 - 2 1314_1316 c.864_866delCTC c.(862-867)tcg>tc p.SS290del AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 121 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding p.S120A(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGAGGAGGACGAGGAGGAGGAGG 0.606 8 551 --- --- --- --- RRH 10692 broad.mit.edu 37 4 110756541 110756541 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:110756541delT ENST00000317735.4 + 3 351 c.317delT c.(316-318)atfs p.I106fs NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 106 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) GGATTGAATATTTTTTTTGGA 0.393 7 463 --- --- --- --- KIAA1109 84162 broad.mit.edu 37 4 123165029 123165029 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:123165029delA ENST00000264501.4 + 31 5136 c.4763delA c.(4762-4764)gafs p.E1588fs KIAA1109_ENST00000455637.1_Frame_Shift_Del_p.E1588fs|KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.E1588fs Q2LD37 K1109_HUMAN KIAA1109 1588 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ACTCCATTGGAAAAAAAACTC 0.383 7 402 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129864163 129864163 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:129864163delT ENST00000281142.5 - 17 2123 c.1620delA c.(1618-1620)aafs p.K540fs SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 540 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TTACTTTGGCTTTTTTTTGAG 0.353 7 574 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 7 438 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 7 505 --- --- --- --- CCDC111 0 broad.mit.edu 37 4 185615905 185615914 + Frame_Shift_Del DEL AACTAATTAT AACTAATTAT - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:185615905_185615914delAACTAATTAT ENST00000314970.6 + 14 2088_2097 c.1655_1664delAACTAATTAT c.(1654-1665)gafs p.ELII552fs CCDC111_ENST00000515774.1_Frame_Shift_Del_p.ELII423fs|CCDC111_ENST00000510864.1_3'UTR|CCDC111_ENST00000503752.1_Frame_Shift_Del_p.ELII552fs|CCDC111_ENST00000512834.1_Frame_Shift_Del_p.ELII551fs|MLF1IP_ENST00000281453.5_3'UTR NM_152683.2 NP_689896.1 Q96LW4 CC111_HUMAN 552 DNA replication, synthesis of RNA primer DNA primase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2) 16 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) ATTCCTGATGAACTAATTATAGAAGTATTA 0.338 56 250 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190878555 190878556 + Frame_Shift_Ins INS - - A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr4:190878555_190878556insA ENST00000226798.4 + 6 657_658 c.435_436insA c.(433-438)ggaaatfs p.N146fs FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 146 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) TCACTTAGGGGAAAATGGCTTT 0.351 7 133 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 7 995 --- --- --- --- C6 729 broad.mit.edu 37 5 41160299 41160300 + Frame_Shift_Del DEL AC AC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr5:41160299_41160300delAC ENST00000263413.3 - 11 1892_1893 c.1628_1629delGT c.(1627-1629)tfs p.C543fs C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 543 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCCACTCTGACACACACACAG 0.475 7 626 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr6:43323502delT ENST00000361428.2 - 4 1647 c.1570delA c.(1570-1572)ggfs p.R526fs ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 10 1682 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 7 706 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 9 454 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:24705666delA ENST00000396475.2 + 9 1209 c.910delA c.(910-912)aafs p.K308fs MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 308 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 9 785 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 9 515 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 7 129 --- --- --- --- RP5-905H7.3 0 broad.mit.edu 37 7 62701951 62701952 + RNA INS - - A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:62701951_62701952insA ENST00000451381.1 - 0 55 CTTTTTTGGAGAAAAAATATAT 0.337 7 12 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150814 65150815 + RNA INS - - C TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:65150814_65150815insC ENST00000430126.2 + 0 757 TCTTCATCCCTCACCCCCCCCC 0.460 11 53 --- --- --- --- PMS2P4 0 broad.mit.edu 37 7 66762432 66762432 + RNA DEL G G - rs60169909 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:66762432delG ENST00000414507.1 - 0 184 gtctcaaaaagaaaaaaaaaa 0.408 7 58 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 12 453 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87074281 87074282 + Frame_Shift_Ins INS - - A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:87074281_87074282insA ENST00000265723.4 - 10 1126_1127 c.1015_1016insT c.(1015-1017)aatfs p.N339fs ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 339 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.S339fs*3(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) AATTAGGATTGAAAAAAAAACC 0.347 7 188 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 7 476 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100281686 100281688 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:100281686_100281688delGCT ENST00000275732.5 - 15 3032_3034 c.1823_1825delAGC c.(1822-1827)ctc>c p.QL608del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 608 Gln-rich.|Poly-Gln. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AATGCCGTGAGCTGCTGCTGCTG 0.690 8 127 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 18 265 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481743 142481745 + RNA DEL CTA CTA - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr7:142481743_142481745delCTA ENST00000603901.1 + 0 454 NR_001296.3 ACCCACATTTCTACTTTCTTTAT 0.517 9 427 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7191540 7191541 + RNA DEL CA CA - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr8:7191540_7191541delCA ENST00000606573.1 - 0 703 GGGGTGcacgcacacacacaca 0.530 7 80 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 7 1091 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 7 8 --- --- --- --- SMARCA2 6595 broad.mit.edu 37 9 2039777 2039779 + In_Frame_Del DEL CAG CAG - rs113070757 byFrequency TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr9:2039777_2039779delCAG ENST00000382203.1 + 4 876_878 c.667_669delCAG c.(667-669)del p.Q238del SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 238 Poly-Gln. Missing (in Ref. 1; CAA51407). chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) gcagcagcaacagcagcagcagc 0.635 8 91 --- --- --- --- C9orf131 138724 broad.mit.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr9:35043650delC ENST00000312292.5 + 2 1071 c.1024delC c.(1024-1026)ccfs p.P343fs C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 343 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TCCGATGCCACCCCCCTGCCA 0.527 9 1852 --- --- --- --- CTSV 1515 broad.mit.edu 37 9 99799590 99799590 + Frame_Shift_Del DEL G G - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr9:99799590delG ENST00000259470.5 - 4 589 c.340delC c.(340-342)ttfs p.L114fs CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Frame_Shift_Del_p.L114fs NM_001333.3 NP_001324.2 cathepsin V GATTTGGGAAGATCAAGAAAC 0.478 127 268 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 10 64 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109689690 109689690 + Frame_Shift_Del DEL C C - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr9:109689690delC ENST00000277225.5 + 3 3786 c.3497delC c.(3496-3498)tcfs p.S1166fs ZNF462_ENST00000441147.2_Frame_Shift_Del_p.S11fs|ZNF462_ENST00000457913.1_Frame_Shift_Del_p.S1166fs Q96JM2 ZN462_HUMAN zinc finger protein 462 1166 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCCCAAGGCTCCCCCCGGCCA 0.542 8 883 --- --- --- --- COL5A1 1289 broad.mit.edu 37 9 137693829 137693829 + Frame_Shift_Del DEL C C - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr9:137693829delC ENST00000371817.3 + 38 3396 c.2982delC c.(2980-2982)ggfs p.G994fs NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 994 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.G997fs*17(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCCCTCCAGGCCCCCCCGGCG 0.657 7 505 --- --- --- --- EXD3 54932 broad.mit.edu 37 9 140267462 140267462 + Frame_Shift_Del DEL G G - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr9:140267462delG ENST00000340951.4 - 5 552 c.357delC c.(355-357)ccfs p.P119fs EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 119 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CCGCAAGGCTGGGGGGGCTCT 0.647 7 615 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 17113554 17113554 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr10:17113554delA ENST00000377833.4 - 19 2561 c.2496delT c.(2494-2496)ttfs p.F832fs NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 832 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACACGTTAGGAAAAAAAGGCG 0.413 8 256 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 17 257 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2025 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATGTTTACCTTTTTTTTCCT 0.373 8 330 --- --- --- --- TNKS2 80351 broad.mit.edu 37 10 93601945 93601946 + Frame_Shift_Ins INS - - A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr10:93601945_93601946insA ENST00000371627.4 + 16 2235_2236 c.1856_1857insA c.(1855-1857)aaafs p.K619fs NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 619 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding p.N622fs*29(1) biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) GCAGACCCTACAAAAAAAAACA 0.391 9 220 --- --- --- --- AP2A2 161 broad.mit.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr11:970195delA ENST00000448903.2 + 3 304 c.163delA c.(163-165)aafs p.K57fs AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 57 Lipid-binding. axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity p.K57fs*24(1) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TGGCTATAGTAAAAAAAAGTA 0.488 7 448 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 8 794 --- --- --- --- TRIM51HP 0 broad.mit.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr11:55065032delT ENST00000526016.1 - 0 393 NR_038174.2 AAAGACTGCATTTTTTTTTAG 0.398 7 199 --- --- --- --- MEN1 0 broad.mit.edu 37 11 64573203 64573205 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr11:64573203_64573205delCTC ENST00000337652.1 - 8 1605_1607 c.1102_1104delGAG c.(1102-1104)del p.E368del MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000443283.1_In_Frame_Del_p.E368del|MEN1_ENST00000312049.6_In_Frame_Del_p.E363del|MEN1_ENST00000377316.2_In_Frame_Del_p.E363del|MEN1_ENST00000394374.2_In_Frame_Del_p.E368del|MEN1_ENST00000315422.4_In_Frame_Del_p.E363del|MEN1_ENST00000394376.1_In_Frame_Del_p.E368del|MEN1_ENST00000377321.1_In_Frame_Del_p.E328del|MEN1_ENST00000377326.3_In_Frame_Del_p.E363del|MEN1_ENST00000377313.1_In_Frame_Del_p.E368del NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 368 Interaction with FANCD2. Missing (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.K362fs*2(1) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CTTCAAAGAACTCCTTGTAGATC 0.601 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 193 264 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 7 265 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d 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_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs 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 13 1019 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 18 1452 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 10 890 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 13 999 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 14 692 --- --- --- --- MARS 4141 broad.mit.edu 37 12 57883053 57883053 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:57883053delT ENST00000262027.5 + 3 338 c.204delT c.(202-204)tafs p.Y68fs MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 68 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TGGGCAGATATTTTTTTTTGT 0.488 10 335 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 7 1131 --- --- --- --- C12orf42 374470 broad.mit.edu 37 12 103695960 103695960 + Frame_Shift_Del DEL G G - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:103695960delG ENST00000548048.1 - 9 1304 c.808delC c.(808-810)gcfs p.R270fs C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 337 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CGGGTTGGGCGGGGGGGTGCT 0.587 9 654 --- --- --- --- HCFC2 29915 broad.mit.edu 37 12 104476535 104476535 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:104476535delA ENST00000229330.4 + 7 1023 c.919delA c.(919-921)aafs p.K308fs NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 308 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity p.N309fs*32(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TCAGGAAGATAAAAAAAATTC 0.373 8 544 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 7 409 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 20 856 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23914687 23914687 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr13:23914687delT ENST00000382298.3 - 10 3916 c.3328delA c.(3328-3330)ttfs p.I1110fs SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1110 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGGCTTCAATTTTTTTTGCC 0.383 15 921 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 9 170 --- --- --- --- OR11H12 440153 broad.mit.edu 37 14 19378219 19378219 + Frame_Shift_Del DEL G G - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr14:19378219delG ENST00000550708.1 + 1 698 c.626delG c.(625-627)aafs p.R209fs NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTGCCCCAAGAATCCAACTG 0.428 9 257 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138372 20138372 + RNA DEL G G - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr14:20138372delG ENST00000548261.1 + 0 391 TGAAACAaaagaaagaaagaa 0.398 4 9 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr14:24633132_24633134delAGC ENST00000396864.3 + 5 828_830 c.541_543delAGC c.(541-543)del p.S187del IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 187 Poly-Ser. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) AGACATTGGGagcagcagcagca 0.567 9 323 --- --- --- --- BAZ1A 11177 broad.mit.edu 37 14 35331422 35331423 + Frame_Shift_Ins INS - - T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr14:35331422_35331423insT ENST00000360310.1 - 3 786_787 c.219_220insA c.(217-222)aacaagfs p.NK73fs BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.NK73fs NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 73 Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TTCTGTCTTGCTTTTTTTTCTG 0.426 8 796 --- --- --- --- ABHD12B 145447 broad.mit.edu 37 14 51370180 51370180 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr14:51370180delA ENST00000337334.2 + 11 952 c.937delA c.(937-939)aafs p.K314fs ABHD12B_ENST00000395752.1_Frame_Shift_Del_p.K207fs|ABHD12B_ENST00000353130.1_Frame_Shift_Del_p.K237fs|PYGL_ENST00000532462.1_Intron NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 314 hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) GGAGTATGGGAAAAAGGTAAA 0.398 7 619 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 19 682 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d 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 12 174 --- --- --- --- GALC 2581 broad.mit.edu 37 14 88406276 88406276 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr14:88406276delT ENST00000261304.2 - 16 1990 c.1884delA c.(1882-1884)aafs p.K628fs GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs|GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 628 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTGTATACCATTTTTTTGCTG 0.308 7 1036 --- --- --- --- TTC8 123016 broad.mit.edu 37 14 89338724 89338726 + In_Frame_Del DEL CAA CAA - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr14:89338724_89338726delCAA ENST00000338104.6 + 13 1375_1377 c.1323_1325delCAA c.(1321-1326)gtc>gt p.VN441del TTC8_ENST00000354441.6_In_Frame_Del_p.VN160del|TTC8_ENST00000345383.5_In_Frame_Del_p.VN415del|TTC8_ENST00000380656.2_In_Frame_Del_p.VN425del|TTC8_ENST00000536576.1_In_Frame_Del_p.VN186del|TTC8_ENST00000346301.4_In_Frame_Del_p.VN385del|TTC8_ENST00000358622.5_In_Frame_Del_p.VN227del Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 451 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TGGCTCTGGTCAACAACAACAAC 0.537 7 555 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 11 161 --- --- --- --- RP11-69H14.6 0 broad.mit.edu 37 15 22332412 22332413 + RNA INS - - A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr15:22332412_22332413insA ENST00000558896.1 + 0 219_220 TTGGCTTGATGAAAAAAAACAA 0.322 9 679 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr15:42742957delA ENST00000263805.4 - 2 1770 c.1444delT c.(1444-1446)ccfs p.S482fs ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TCTCCAGGGGAAAAAAAATTT 0.393 7 753 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr15:60745782delA ENST00000561114.1 - 9 1307 c.1145delT c.(1144-1146)tcfs p.F382fs NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCCTTAGGGGAAAAAAAAAGC 0.338 8 165 --- --- --- --- MLST8 64223 broad.mit.edu 37 16 2258237 2258237 + Frame_Shift_Del DEL G G - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr16:2258237delG ENST00000569417.1 + 7 954 c.600delG c.(598-600)acfs p.T200fs MLST8_ENST00000301725.7_Intron|MLST8_ENST00000565250.1_Frame_Shift_Del_p.T200fs|MLST8_ENST00000397124.1_Frame_Shift_Del_p.T200fs|MLST8_ENST00000564088.1_Frame_Shift_Del_p.T200fs|MLST8_ENST00000382450.4_Frame_Shift_Del_p.T199fs|MLST8_ENST00000561651.1_Intron|MLST8_ENST00000301724.10_Frame_Shift_Del_p.T200fs NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 200 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 GGAATCTGACGGGGGGCATTG 0.627 7 555 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 8 742 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 10 2368 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32823636 32823637 + RNA INS - - C rs112857933 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr16:32823636_32823637insC ENST00000569859.1 + 0 373 TTGCTGGAGTGGATGTGACAGG 0.495 9 160 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 9 159 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA 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 9 753 --- --- --- --- SNAI3 333929 broad.mit.edu 37 16 88745006 88745007 + Frame_Shift_Del DEL GC GC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr16:88745006_88745007delGC ENST00000332281.5 - 3 814_815 c.728_729delGC c.(727-729)afs p.S243fs SNAI3-AS1_ENST00000563261.1_RNA NM_178310.3 NP_840101.1 Q3KNW1 SNAI3_HUMAN snail family zinc finger 3 243 oxidation-reduction process copper ion binding|DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.048) CAAAGGCCCTGCTGCAGTGCGA 0.639 26 95 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 13 1114 --- --- --- --- SUZ12P 0 broad.mit.edu 37 17 29096086 29096087 + RNA INS - - T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:29096086_29096087insT ENST00000582557.1 + 0 1381 AATATTGGTAATTTTTTTTTTT 0.347 10 105 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:49077041delT ENST00000262013.7 - 14 1853 c.1645delA c.(1645-1647)ggfs p.R549fs SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 549 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm p.R535fs*28(1) NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) ATGCTTGACCTTTTTTTTTCC 0.323 13 270 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - A TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:66141015_66141016insA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 8 369 --- --- --- --- TNRC6C 57690 broad.mit.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr17:76046980delA ENST00000335749.4 + 3 2406 c.1837delA c.(1837-1839)aafs p.K614fs TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 614 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGGGGATGGGAAAAAAAATGG 0.522 8 533 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793004 8793004 + Frame_Shift_Del DEL C C - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr18:8793004delC ENST00000359865.3 + 8 2038 c.1896delC c.(1894-1896)ggfs p.G632fs SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 AGCTCAGGGGCCCCCCCGTTT 0.552 12 890 --- --- --- --- LMAN1 3998 broad.mit.edu 37 18 57013284 57013285 + Splice_Site INS - - T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr18:57013284_57013285insT ENST00000251047.5 - 8 1540 c.e8-1 LMAN1_ENST00000587940.1_Splice_Site NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) CTGGTGTGGGCTTTTTTTTGGA 0.297 10 498 --- --- --- --- UHRF1 29128 broad.mit.edu 37 19 4960949 4960949 + RNA DEL T T - rs147409935 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:4960949delT ENST00000592666.1 + 0 3092 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) TTTGTCTTCCttttttttttt 0.343 9 5 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 11 835 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461741 12461741 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:12461741delA ENST00000242804.4 - 6 1240 c.658delT c.(658-660)ggfs p.W220fs ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AAACTAGGCCAAAAAAAGGCT 0.403 8 829 --- --- --- --- LSM14A 26065 broad.mit.edu 37 19 34710340 34710340 + Frame_Shift_Del DEL C C - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:34710340delC ENST00000544216.3 + 7 903 c.826delC c.(826-828)ggfs p.R276fs LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 276 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TGGGGGTCATCGGGGTGGCAG 0.438 7 689 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:36054349_36054351delCTT ENST00000262623.3 - 2 119_121 c.91_93delAAG c.(91-93)del p.K31del NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 31 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCACCCGCCTTCTTCTTCTTG 0.601 8 1046 --- --- --- --- SERTAD1 29950 broad.mit.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:40929409_40929411delCTC ENST00000357949.4 - 2 201_203 c.43_45delGAG c.(43-45)del p.E15del NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCTCC 0.557 7 304 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 7 89 --- --- --- --- MIR525 0 broad.mit.edu 37 19 54200829 54200830 + RNA INS - - A rs80268200 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:54200829_54200830insA ENST00000384978.1 + 0 43_44 NR_030192.1 TCTCTTATGTGAAAAAAAAGAA 0.421 7 537 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 19 316 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 8 348 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 10 230 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 10 494 --- --- --- --- SALL4 57167 broad.mit.edu 37 20 50408526 50408526 + Frame_Shift_Del DEL G G - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr20:50408526delG ENST00000217086.4 - 2 607 c.496delC c.(496-498)agfs p.Q166fs SALL4_ENST00000395997.3_Frame_Shift_Del_p.Q166fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 166 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTTATGTCCTGGGGGGTGGGT 0.577 10 1348 --- --- --- --- GNAS-AS1 0 broad.mit.edu 37 20 57405217 57405218 + RNA INS - - CATATGATAG TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr20:57405217_57405218insCATATGATAG ENST00000424094.2 - 0 819 GNAS-AS1_ENST00000598163.1_RNA NR_002785.2 accaccaccactgctataccac 0.535 3 4 --- --- --- --- GART 2618 broad.mit.edu 37 21 34882121 34882122 + Frame_Shift_Ins INS - - T TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chr21:34882121_34882122insT ENST00000381831.3 - 18 2683_2684 c.2420_2421insA c.(2419-2421)agcfs p.S807fs GART_ENST00000381815.4_Frame_Shift_Ins_p.S807fs|GART_ENST00000543717.1_Frame_Shift_Ins_p.S359fs|GART_ENST00000381839.3_Frame_Shift_Ins_p.S807fs NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 807 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding p.K807fs*7(2) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) CCACTCTGGCCTTTTTTTTTTC 0.446 9 172 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 12 218 --- --- --- --- ZFX 7543 broad.mit.edu 37 X 24229134 24229134 + Frame_Shift_Del DEL A A - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:24229134delA ENST00000379177.1 + 11 2486 c.2059delA c.(2059-2061)aafs p.K688fs ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs|ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 688 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 CCACAAGGGCAAAAAAATGCA 0.428 8 748 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50165595 50165596 + RNA INS - - AC rs59226442 TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:50165595_50165596insAC ENST00000376025.2 - 0 816 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) TTAAAAGGTAAacacacacaca 0.411 10 59 --- --- --- --- FAM120C 54954 broad.mit.edu 37 X 54209302 54209303 + In_Frame_Ins INS - - GGCGGC TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:54209302_54209303insGGCGGC ENST00000375180.2 - 1 385_386 c.329_330insGCCGCC c.(328-330)ccc>cGCCGCCcc p.109_110insRR FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 109 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCAGCTGAGGGGGCGGCGGCGG 0.748 7 37 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:54578339_54578341delGAA ENST00000336470.4 + 12 1252_1254 c.1113_1115delGAA c.(1111-1116)ggg>gg p.GK371del GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 371 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 ACCGTTTGGGGAAGAAGAAGAAG 0.557 8 459 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 10 630 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 7 748 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:135314194delG ENST00000316077.9 - 8 1142 c.922delC c.(922-924)agfs p.Q308fs MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) ACATTCACCTGGGGGGGTGCA 0.532 8 1515 --- --- --- --- GPR112 139378 broad.mit.edu 37 X 135455156 135455156 + Frame_Shift_Del DEL G G - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:135455156delG ENST00000394143.1 + 15 8000 c.7709delG c.(7708-7710)cgfs p.R2570fs GPR112_ENST00000394141.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.R2570fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.R2368fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.R2365fs NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2570 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R2570L(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GCTGTGCTGCGGGGGGACCAC 0.532 7 1944 --- --- --- --- SPANXN2 494119 broad.mit.edu 37 X 142803692 142803692 + Frame_Shift_Del DEL T T - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:142803692delT ENST00000370498.1 - 1 824 c.71delA c.(70-72)atfs p.N24fs NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 24 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.443 10 990 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 16 761 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-3A-A9IN-01A-11D-A397-08 TCGA-3A-A9IN-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d19332b-2cfd-4fb7-85d9-96d08e5ba837 3f450d7d-d471-4b97-8a4c-696789306e4d g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 9 583 --- --- --- ---