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 KLHL36 79786 broad.mit.edu 37 16 84684525 84684525 + Missense_Mutation SNP G G A rs79842977 by1000genomes TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr16:84684525G>A ENST00000564996.1 + 2 193 c.52G>A c.(52-54)Gaa>Aaa p.E18K KLHL36_ENST00000258157.5_Missense_Mutation_p.E18K NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 18 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CAAGATCAGCGAATCATCAAA 0.438000 13 270 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129151965 129151965 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr3:129151965C>T ENST00000429544.2 - 6 1714 c.1519G>A c.(1519-1521)Gca>Aca p.A507T MBD4_ENST00000249910.1_Missense_Mutation_p.A513T|MBD4_ENST00000503197.1_Missense_Mutation_p.A513T|MBD4_ENST00000393278.2_Missense_Mutation_p.A195T|MBD4_ENST00000507208.1_Missense_Mutation_p.A513T NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 513 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 ATGGTTTTTGCCCGAAGATCG 0.403000 Base excision repair (BER), DNA glycosylases 7 560 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102057186 102057186 + Silent SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr10:102057186G>A ENST00000318222.3 - 5 1291 c.909C>T c.(907-909)atC>atT p.I303I PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Silent_p.I303I NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 303 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CTGAGAAGTCGATGAACACCA 0.567000 37 278 0 0 1 0 0 SGCD 6444 broad.mit.edu 37 5 155771593 155771593 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr5:155771593G>A ENST00000435422.3 + 2 582 c.95G>A c.(94-96)cGa>cAa p.R32Q SGCD_ENST00000517913.1_Missense_Mutation_p.R33Q|SGCD_ENST00000447401.1_Missense_Mutation_p.R33Q|SGCD_ENST00000337851.4_Missense_Mutation_p.R33Q NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 32 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGCGGAAACGATGCCTGTAT 0.483000 40 237 0 0 1 0 0 OPRD1 4985 broad.mit.edu 37 1 29185499 29185499 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:29185499C>T ENST00000234961.2 + 2 503 c.261C>T c.(259-261)taC>taT p.Y87Y NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 87 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CCAACATCTACATCTTCAACC 0.493000 8 402 0 0 1 0 0 LPO 0 broad.mit.edu 37 17 56345237 56345237 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:56345237C>T ENST00000262290.4 + 13 2337 c.2021C>T c.(2020-2022)aCc>aTc p.T674I LPO_ENST00000543544.1_Missense_Mutation_p.T615I|LPO_ENST00000582328.1_Missense_Mutation_p.T591I|LPO_ENST00000421678.2_Missense_Mutation_p.T591I NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 674 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TGTGACAACACCCGCATCACC 0.557000 65 284 0 0 1 0 0 WASH2P 0 broad.mit.edu 37 2 114355129 114355129 + RNA SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:114355129G>A ENST00000538033.2 + 0 2068 GAGTCCATCCGCCAAGCTGGG 0.657000 6 105 0 0 1 0 0 CSPG5 10675 broad.mit.edu 37 3 47618421 47618421 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr3:47618421C>T ENST00000383738.2 - 2 3193 c.1095G>A c.(1093-1095)cgG>cgA p.R365R CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 365 cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) AGCCGTTATGCCGCACAAAGC 0.627000 5 443 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61602106 61602106 + Missense_Mutation SNP A A C TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr18:61602106A>C ENST00000238508.3 + 8 883 c.824A>C c.(823-825)gAg>gCg p.E275A AC009802.1_ENST00000599868.1_Intron NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) AAGCTGAATGAGTGGACCAGT 0.438000 52 238 0 0 1 0 0 ZNF653 115950 broad.mit.edu 37 19 11596490 11596490 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr19:11596490C>T ENST00000293771.5 - 7 1687 c.1551G>A c.(1549-1551)cgG>cgA p.R517R CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 TGATCATGTGCCGCCGCAGGT 0.592000 5 295 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41318497 41318497 + Silent SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr6:41318497G>A ENST00000373089.5 + 5 814 c.726G>A c.(724-726)acG>acA p.T242T NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 242 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) aacaggtcacggaccttccct 0.478000 7 205 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208276511 208276511 + Missense_Mutation SNP A A G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:208276511A>G ENST00000367033.3 - 5 2345 c.1588T>C c.(1588-1590)Tgg>Cgg p.W530R NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 530 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) AGGGCACACCAGCCACAGTGA 0.547000 18 75 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195509717 195509717 + Missense_Mutation SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr3:195509717G>T ENST00000463781.3 - 2 9193 c.8734C>A c.(8734-8736)Cct>Act p.P2912T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2912T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 662 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACAGGAAGAGGCGTGGTGTCA 0.587000 3 17 3.59834e-05 3.8264e-05 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1268340 1268340 + Silent SNP A A T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:1268340A>T ENST00000447027.1 + 31 10297 c.10239A>T c.(10237-10239)ccA>ccT p.P3413P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3410P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3410 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) cctcaactccagggacaactc 0.637000 3 28 0 0 1 0 0 PREPL 9581 broad.mit.edu 37 2 44586652 44586652 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:44586652C>T ENST00000409936.1 - 2 640 c.203G>A c.(202-204)cGg>cAg p.R68Q PREPL_ENST00000409957.1_Intron|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409272.1_Missense_Mutation_p.R68Q|PREPL_ENST00000260648.6_Missense_Mutation_p.R68Q|PREPL_ENST00000378511.3_Missense_Mutation_p.R68Q|PREPL_ENST00000378520.3_Missense_Mutation_p.R68Q|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000410081.1_Missense_Mutation_p.R68Q NM_001171606.1 NP_001165077.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 68 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGAGAAGCTCCGACTTGGGAT 0.308000 110 573 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 4 306 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965170 123965170 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr8:123965170G>A ENST00000314393.4 + 3 2255 c.1420G>A c.(1420-1422)Gag>Aag p.E474K NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 474 Required for interaction with NFYA. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CCGGCTCATCGAGGTGACTGG 0.557000 5 175 0 0 1 0 0 IGHV4-28 0 broad.mit.edu 37 14 106780960 106780960 + RNA SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr14:106780960G>T ENST00000390612.2 - 0 57 TTGCACAGGAGGTCCAGGACT 0.498000 4 145 0.00024832 0.000260391 1 1 0 TUBA4B 0 broad.mit.edu 37 2 220136438 220136438 + RNA SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:220136438C>T ENST00000490341.1 + 0 908 NR_003063.1 ATCCCCGGCACGGCAAGTACA 0.537000 9 284 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102851439 102851439 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:102851439C>T ENST00000264257.2 + 11 1506 c.1380C>T c.(1378-1380)ggC>ggT p.G460G IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.G460G|IL1RL2_ENST00000441515.2_Silent_p.G342G NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 460 TIR. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 TGGGCTTTGGCCTGTTGAAGA 0.488000 5 250 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126432761 126432761 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:126432761C>T ENST00000525144.2 - 2 351 c.102G>A c.(100-102)atG>atA p.M34I KIRREL3_ENST00000533026.2_5'UTR|KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000529097.2_Missense_Mutation_p.M34I|KIRREL3_ENST00000525704.2_Missense_Mutation_p.M34I NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 34 hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) TGTCCTTGGCCATGTAGCCCA 0.547000 31 206 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21806573 21806573 + Missense_Mutation SNP A A G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:21806573A>G ENST00000318220.6 + 14 2118 c.1070A>G c.(1069-1071)gAg>gGg p.E357G NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 413 NBPF 2. cytoplasm p.E413G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GATGAGAAAGAGCCTGAAGTC 0.463000 5 252 0 0 1 0 0 CHGA 1113 broad.mit.edu 37 14 93396099 93396099 + Missense_Mutation SNP C C A rs150929444 byFrequency TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr14:93396099C>A ENST00000216492.5 + 5 574 c.294C>A c.(292-294)agC>agA p.S98R CHGA_ENST00000334654.4_Missense_Mutation_p.S98R|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 98 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) AGAAACACAGCGGTTTTGAAG 0.542000 19 197 1.56452e-12 1.69959e-12 1 1 0 SLC47A1 55244 broad.mit.edu 37 17 19458922 19458922 + Missense_Mutation SNP A A G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:19458922A>G ENST00000270570.4 + 8 744 c.658A>G c.(658-660)Aac>Gac p.N220D SLC47A1_ENST00000457293.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000395585.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000542886.1_Missense_Mutation_p.K187R|SLC47A1_ENST00000436810.2_Missense_Mutation_p.N197D|SLC47A1_ENST00000575023.1_Intron NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 220 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TGCACTGGCAAACTTGATTTC 0.527000 71 200 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110451075 110451075 + Silent SNP T T C TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:110451075T>C ENST00000260283.4 - 16 2879 c.2595A>G c.(2593-2595)tcA>tcG p.S865S ARHGAP20_ENST00000529591.1_Silent_p.S408S|ARHGAP20_ENST00000528829.1_Silent_p.S829S|ARHGAP20_ENST00000524756.1_Silent_p.S842S|ARHGAP20_ENST00000527598.1_Silent_p.S829S|ARHGAP20_ENST00000533353.1_Silent_p.S839S|ARHGAP20_ENST00000357139.3_Silent_p.S839S NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 865 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GTTGTTTCTTTGAATAAATTC 0.493000 108 476 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179604922 179604922 + Missense_Mutation SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:179604922G>T ENST00000444136.1 + 9 1670 c.1420G>T c.(1420-1422)Ggg>Tgg p.G474W TDRD5_ENST00000294848.8_Missense_Mutation_p.G474W|TDRD5_ENST00000367614.1_Missense_Mutation_p.G474W NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 474 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TTCCCTCATAGGGGTCTTTGT 0.463000 33 243 1.06647e-15 1.16694e-15 1 1 0 ASB18 401036 broad.mit.edu 37 2 237172977 237172977 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:237172977C>T ENST00000409749.3 - 1 11 c.12G>A c.(10-12)tcG>tcA p.S4S AC079135.1_ENST00000415226.1_RNA NM_212556.2 NP_997721.2 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box containing 18 4 intracellular signal transduction large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) GAAGGTAATCCGAGTTGGACA 0.493000 5 214 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140407107 140407107 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr3:140407107G>A ENST00000286349.3 + 3 1774 c.1583G>A c.(1582-1584)gGc>gAc p.G528D NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 528 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CACAGCCTCGGCAACCAGCAC 0.577000 6 427 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 4 168 0 0 1 0 0 IGLV4-69 0 broad.mit.edu 37 22 22385750 22385750 + RNA SNP A A G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr22:22385750A>G ENST00000390282.2 + 0 299 PRAMEF24P_ENST00000337471.4_RNA AGCAAGGGGGACGGGATCCCT 0.592000 4 286 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16374889 16374889 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:16374889C>T ENST00000375679.4 + 6 661 c.550C>T c.(550-552)Cgc>Tgc p.R184C NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GGGCCGTGTGCGCACCACGAC 0.662000 4 141 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94376915 94376915 + Nonsense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr4:94376915C>T ENST00000282020.4 + 11 1906 c.1648C>T c.(1648-1650)Cga>Tga p.R550* GRID2_ENST00000510992.1_Nonsense_Mutation_p.R455* NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 550 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGTACTACTTCGAAGGGCTGA 0.478000 13 375 0 0 1 0 0 DPAGT1 1798 broad.mit.edu 37 11 118972344 118972344 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:118972344G>A ENST00000409993.2 - 3 1573 c.22C>T c.(22-24)Ccc>Tcc p.P8S DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.P8S Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 8 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) AGCGGCATGGGCAATTCCGAG 0.632000 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 287 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73492028 73492028 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr10:73492028C>T ENST00000224721.6 + 31 4020 c.4015C>T c.(4015-4017)Cgg>Tgg p.R1339W C10orf105_ENST00000398786.2_Intron NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1334 Cadherin 13. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGAGATTGTGCGGGTCCAGGC 0.562000 4 100 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33596156 33596156 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr5:33596156C>T ENST00000504830.1 - 17 2872 c.2537G>A c.(2536-2538)cGc>cAc p.R846H ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R761H|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 846 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R846H(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGCAGTTTGGCGGCGGATACC 0.517000 HNSCC(64;0.19) 52 334 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070915 141070915 + RNA SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr9:141070915C>T ENST00000503395.1 + 0 1690 p.T178T(1) TGTCAGACACCGTGGTGGAGC 0.522000 10 235 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42928694 42928694 + Missense_Mutation SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:42928694G>T ENST00000426333.2 - 28 3164 c.2867C>A c.(2866-2868)cCt>cAt p.P956H EFTUD2_ENST00000402521.3_Missense_Mutation_p.P921H|EFTUD2_ENST00000592576.1_Missense_Mutation_p.P946H|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P956H NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 956 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CAGCAACATAGGATCATCGAA 0.522000 85 519 1.68737e-39 1.87347e-39 1 1 0 SEL1L 6400 broad.mit.edu 37 14 81950645 81950645 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr14:81950645G>A ENST00000336735.4 - 19 2086 c.1970C>T c.(1969-1971)gCt>gTt p.A657V NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 657 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) CTGCTCAGAAGCCAGACGGTA 0.428000 46 1225 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77709028 77709028 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:77709028G>A ENST00000328313.5 + 3 807 c.586G>A c.(586-588)Ggg>Agg p.G196R NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 196 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) ACTCTACTTCGGGGAGCCGGA 0.627000 5 158 0 0 1 0 0 WSCD1 23302 broad.mit.edu 37 17 6023840 6023840 + Silent SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:6023840G>A ENST00000574946.1 + 9 1977 c.1587G>A c.(1585-1587)cgG>cgA p.R529R WSCD1_ENST00000573634.1_Silent_p.R413R|WSCD1_ENST00000574232.1_Silent_p.R529R|WSCD1_ENST00000539421.1_Silent_p.R529R|WSCD1_ENST00000317744.5_Silent_p.R529R Q658N2 WSCD1_HUMAN WSC domain containing 1 529 integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 GCAGCTTCCGGCGGCGCGGCC 0.647000 65 168 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427885 3427885 + RNA SNP A A G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:3427885A>G ENST00000529482.1 + 0 1002 AGCTTCACAGATCCACCGCTG 0.587000 6 70 0 0 1 0 0 C10orf82 143379 broad.mit.edu 37 10 118425205 118425205 + Missense_Mutation SNP G G C TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr10:118425205G>C ENST00000369210.3 - 3 242 c.188C>G c.(187-189)gCc>gGc p.A63G C10orf82_ENST00000588184.1_Missense_Mutation_p.A63G NM_144661.2 NP_653262.1 Q8WW14 CJ082_HUMAN chromosome 10 open reading frame 82 63 endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all cancers(201;0.0143) CAGTTTCGGGGCAGTGGCCAC 0.562000 50 254 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40581489 40581489 + Missense_Mutation SNP C C G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr15:40581489C>G ENST00000260402.3 - 31 3587 c.3338G>C c.(3337-3339)cGg>cCg p.R1113P PLCB2_ENST00000456256.2_Missense_Mutation_p.R1098P|PLCB2_ENST00000557821.1_Missense_Mutation_p.R1109P NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 1113 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TTCCATCTCCCGTATCTGTTC 0.582000 11 386 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 7 440 0.0381472 0.0381472 1 1 0 ZNF667 63934 broad.mit.edu 37 19 56953041 56953041 + Silent SNP T T C TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr19:56953041T>C ENST00000504904.3 - 7 2042 c.1323A>G c.(1321-1323)aaA>aaG p.K441K ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.K569K|ZNF667_ENST00000292069.6_Silent_p.K441K Q5HYK9 ZN667_HUMAN zinc finger protein 667 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) ATTTGAAAGGTTTCTCTTCAG 0.338000 12 429 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 6 426 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137709638 137709638 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr9:137709638C>T ENST00000371817.3 + 54 4605 c.4191C>T c.(4189-4191)ccC>ccT p.P1397P NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1397 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 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) CCCCAGGCCCCGCAGGCCCCG 0.657000 11 46 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43237204 43237204 + Silent SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr19:43237204G>T ENST00000327495.5 - 3 625 c.441C>A c.(439-441)ccC>ccA p.P147P PSG3_ENST00000595140.1_Silent_p.P147P NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 147 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TGGAGGGCTTGGGAGTCTCCA 0.522000 150 695 6.68944e-66 7.53811e-66 1 1 0 GREB1 9687 broad.mit.edu 37 2 11780565 11780565 + Silent SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:11780565G>A ENST00000381486.2 + 33 6135 c.5835G>A c.(5833-5835)acG>acA p.T1945T GREB1_ENST00000396123.1_Silent_p.T943T|GREB1_ENST00000234142.5_Silent_p.T1945T NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1945 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TTTTTCTGACGGGACGACACA 0.607000 29 300 0 0 1 0 0 WDR48 57599 broad.mit.edu 37 3 39118643 39118643 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr3:39118643G>A ENST00000302313.5 + 9 939 c.911G>A c.(910-912)aGa>aAa p.R304K WDR48_ENST00000396258.3_Missense_Mutation_p.R222K|WDR48_ENST00000544962.1_Missense_Mutation_p.R96K|WDR48_ENST00000418020.1_5'UTR NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 304 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GAGCTTGATAGATCAGCTGAT 0.373000 60 323 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31740473 31740473 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr22:31740473C>T ENST00000266269.5 - 1 1745 c.1116G>A c.(1114-1116)cgG>cgA p.R372R PATZ1_ENST00000405309.3_Silent_p.R372R|PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 372 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R372R(2) EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 ACAGCTTGTGCCGGTTAAGAT 0.582000 5 317 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42693584 42693584 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:42693584C>T ENST00000372572.1 - 7 809 c.498G>A c.(496-498)cgG>cgA p.R166R FOXJ3_ENST00000372573.1_Silent_p.R166R|FOXJ3_ENST00000361776.1_Silent_p.R166R|FOXJ3_ENST00000361346.1_Silent_p.R166R|FOXJ3_ENST00000545068.1_Silent_p.R166R NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 166 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TCTTCTTTGGCCGAGTAGGCA 0.388000 6 599 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77390934 77390934 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr9:77390934G>A ENST00000451710.3 - 24 3505 c.3268C>T c.(3268-3270)Cgc>Tgc p.R1090C TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1090C|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1090C|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1085C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1085C Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1090 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ATGATGTAGCGATAGCGGTTG 0.493000 12 420 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131476784 131476784 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr12:131476784G>A ENST00000261654.5 + 8 1372 c.813G>A c.(811-813)atG>atA p.M271I GPR133_ENST00000535015.1_Missense_Mutation_p.M303I|RP11-76C10.5_ENST00000542980.1_lincRNA NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 271 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCTTTCAGATGCCCACAGATG 0.393000 24 944 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 4 255 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 410376 410376 + Silent SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr10:410376G>A ENST00000280886.6 - 20 2502 c.2415C>T c.(2413-2415)aaC>aaT p.N805N DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.N126N NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 805 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TGTCGTCGGCGTTGTGCCTGC 0.602000 59 263 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505870 195505870 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr3:195505870G>A ENST00000463781.3 - 2 13040 c.12581C>T c.(12580-12582)cCt>cTt p.P4194L MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P4194L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 957 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCGGTGACAGGAAGAGGGGT 0.602000 4 20 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77317969 77317969 + Splice_Site SNP C C G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr16:77317969C>G ENST00000282849.5 - 23 3969 c.e23-1 RP11-538I12.3_ENST00000561672.1_RNA NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GATGGATCCTCTAAAATAAGA 0.398000 35 238 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41245612 41245612 + Missense_Mutation SNP T T C TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:41245612T>C ENST00000309486.4 - 9 2075 c.1048A>G c.(1048-1050)Agc>Ggc p.S350G BRCA1_ENST00000493795.1_Missense_Mutation_p.S599G|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S646G|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.S646G|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S646G|BRCA1_ENST00000354071.3_Missense_Mutation_p.S646G NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 646 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TCTTCACTGCTAGAACAACTA 0.408000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 56 510 0 0 1 0 0 DAPK3 1613 broad.mit.edu 37 19 3964300 3964300 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr19:3964300C>T ENST00000545797.2 - 4 738 c.495G>A c.(493-495)gcG>gcA p.A165A DAPK3_ENST00000301264.3_Silent_p.A165A O43293 DAPK3_HUMAN death-associated protein kinase 3 165 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CGATCTTGTGCGCGATGCCGA 0.622000 4 169 0 0 1 0 0 ARID3C 138715 broad.mit.edu 37 9 34622033 34622033 + Silent SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr9:34622033G>A ENST00000378909.2 - 6 1214 c.1122C>T c.(1120-1122)aaC>aaT p.N374N NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 374 Pro-rich.|REKLES. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) AGACCACCCCGTTGATCTCTA 0.552000 42 300 0 0 1 0 0 BTN2A2 10385 broad.mit.edu 37 6 26392774 26392774 + Nonsense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr6:26392774G>A ENST00000356709.4 + 8 1262 c.1151G>A c.(1150-1152)tGg>tAg p.W384* BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Nonsense_Mutation_p.W268*|BTN2A2_ENST00000482536.1_Nonsense_Mutation_p.W174*|BTN2A2_ENST00000416795.2_Nonsense_Mutation_p.W384* NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 384 B30.2/SPRY. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 AAACATTACTGGGAGGTGGAG 0.572000 4 290 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 4 202 0.00909568 0.00921777 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78790136 78790136 + Missense_Mutation SNP T T C rs62556589 TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr9:78790136T>C ENST00000376767.3 + 14 2503 c.1991T>C c.(1990-1992)aTg>aCg p.M664T PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 tggaatggaatgaaatggaat 0.423000 4 80 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143618425 143618425 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr8:143618425C>T ENST00000517894.1 + 26 4542 c.3648C>T c.(3646-3648)aaC>aaT p.N1216N BAI1_ENST00000323289.5_Silent_p.N1216N O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1216 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCTTCCAGAACGGCCACGCCC 0.692000 4 47 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71588247 71588247 + Translation_Start_Site SNP T T A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr4:71588247T>A ENST00000226328.4 + 0 520 RUFY3_ENST00000381006.3_De_novo_Start_OutOfFrame|RUFY3_ENST00000417478.2_Intron NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) tgtgtgtgagtgtgtgtgtgt 0.478000 4 81 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183673042 183673042 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr4:183673042G>A ENST00000511685.1 + 20 3842 c.3719G>A c.(3718-3720)cGc>cAc p.R1240H TENM3_ENST00000406950.2_Missense_Mutation_p.R1240H|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 AGAATTTATCGCCCAAAGTCA 0.512000 6 324 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150923075 150923075 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr5:150923075G>A ENST00000261800.5 - 9 7625 c.7613C>T c.(7612-7614)gCc>gTc p.A2538V NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2538 Cadherin 22. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGCAGAGTGGCAATCTGGCC 0.453000 8 845 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171284 207171284 + Missense_Mutation SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:207171284G>T ENST00000374423.3 + 5 2418 c.2032G>T c.(2032-2034)Gac>Tac p.D678Y NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 678 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCAATTAGCTGACCAGTCTCA 0.428000 29 156 1.32181e-22 1.45688e-22 1 1 0 SNAPC4 6621 broad.mit.edu 37 9 139289824 139289824 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr9:139289824C>T ENST00000298532.2 - 4 765 c.397G>A c.(397-399)Ggc>Agc p.G133S NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 133 SNAPC5-binding. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) AGGCTTTTGCCATCTTTCACC 0.567000 9 274 0 0 1 0 0 IRX5 10265 broad.mit.edu 37 16 54966435 54966435 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr16:54966435G>A ENST00000394636.4 + 2 612 c.275G>A c.(274-276)gGc>gAc p.G92D IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Missense_Mutation_p.G26D|IRX5_ENST00000320990.5_Missense_Mutation_p.G92D P78411 IRX5_HUMAN iroquois homeobox 5 92 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 CACACACCCGGCATGGCGGGC 0.652000 5 217 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45878098 45878098 + Silent SNP C C T rs150281723 by1000genomes TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr10:45878098C>T ENST00000374391.2 + 2 371 c.318C>T c.(316-318)ggC>ggT p.G106G ALOX5_ENST00000542434.1_Silent_p.G106G NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 106 PLAT. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding p.G106G(1) breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GGATCACCGGCGATGTCGAGG 0.592000 14 93 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819229 50819229 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr10:50819229G>A ENST00000374115.3 + 1 883 c.443G>A c.(442-444)cGc>cAc p.R148H CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 148 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 TTCATCGACCGCATGAGCTAC 0.617000 6 583 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844790 18844790 + RNA SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr22:18844790C>T ENST00000412938.1 + 0 3040 GTGGAGGAGACGTCTCCCATG 0.577000 4 74 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90630448 90630448 + Missense_Mutation SNP C C A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr15:90630448C>A ENST00000330062.3 - 7 976 c.863G>T c.(862-864)cGg>cTg p.R288L IDH2_ENST00000559482.1_Missense_Mutation_p.R179L|IDH2_ENST00000539790.1_Missense_Mutation_p.R158L|IDH2_ENST00000540499.2_Missense_Mutation_p.R236L NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 288 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) ATCAATGAGCCGGTGCTCATA 0.527000 M GBM OREG0023466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 233 0.00198382 0.00205176 1 1 0 MBD3L1 85509 broad.mit.edu 37 19 8953738 8953738 + Silent SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr19:8953738G>A ENST00000595891.1 + 3 615 c.384G>A c.(382-384)gcG>gcA p.A128A MBD3L1_ENST00000305625.2_Silent_p.A128A Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 1 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 CTTCAGATGCGGTGGAGATAA 0.522000 21 118 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44974339 44974339 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr14:44974339C>T ENST00000340446.4 - 1 2143 c.1852G>A c.(1852-1854)Gcc>Acc p.A618T NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 618 Ala-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TCAGCGGGGGCCTCCTCAGCT 0.617000 6 118 0 0 1 0 0 C11orf70 85016 broad.mit.edu 37 11 101953816 101953816 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:101953816G>A ENST00000434758.2 + 7 718 c.690G>A c.(688-690)atG>atA p.M230I NM_032930.2 NP_116319.2 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 230 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) CTGCTGGTATGTGCTATCCTT 0.294000 114 442 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 9 190 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 114027126 114027126 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:114027126C>T ENST00000335953.4 + 3 1716 c.1336C>T c.(1336-1338)Cgg>Tgg p.R446W ZBTB16_ENST00000392996.2_Missense_Mutation_p.R446W NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 446 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GGATAGTTTGCGGCTGAGAAT 0.547000 4 215 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69969883 69969883 + Nonsense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr16:69969883G>A ENST00000359154.2 + 18 2071 c.1970G>A c.(1969-1971)tGg>tAg p.W657* WWP2_ENST00000356003.2_Nonsense_Mutation_p.W657*|WWP2_ENST00000448661.1_Nonsense_Mutation_p.W657*|WWP2_ENST00000542271.1_Nonsense_Mutation_p.W541*|WWP2_ENST00000568684.1_Nonsense_Mutation_p.W218*|WWP2_ENST00000544162.1_3'UTR NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 657 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCATTGTCTGGATCAAGTGA 0.542000 82 346 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7469871 7469871 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr12:7469871C>T ENST00000399422.4 + 4 807 c.759C>T c.(757-759)tgC>tgT p.C253C NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 253 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TCACCCTCTGCGGAAGGTAGG 0.463000 7 26 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33337722 33337722 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr20:33337722G>A ENST00000374796.2 - 10 4846 c.2276C>T c.(2275-2277)aCg>aTg p.T759M NCOA6_ENST00000359003.2_Missense_Mutation_p.T759M Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 759 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 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 CATCTGTCCCGTAAACTGCAC 0.542000 4 280 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144814702 144814702 + Missense_Mutation SNP G G T rs145249789 by1000genomes TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:144814702G>T ENST00000440491.2 + 3 340 c.340G>T c.(340-342)Gct>Tct p.A114S NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 CCTGGTTCACGCTCAGGAACG 0.493000 7 758 3.86212e-05 4.07818e-05 1 1 0 MRPS33 51650 broad.mit.edu 37 7 140710243 140710243 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr7:140710243G>A ENST00000393008.3 - 2 346 c.191C>T c.(190-192)aCg>aTg p.T64M MRPS33_ENST00000469351.1_Missense_Mutation_p.T64M|MRPS33_ENST00000467334.1_Missense_Mutation_p.T54M|MRPS33_ENST00000496958.1_Missense_Mutation_p.T64M|MRPS33_ENST00000324787.5_Missense_Mutation_p.T64M NM_016071.3 NP_057155.1 Q9Y291 RT33_HUMAN mitochondrial ribosomal protein S33 64 translation mitochondrial small ribosomal subunit structural constituent of ribosome breast(2)|endometrium(1)|kidney(1) 4 Melanoma(164;0.00956) AAATCGGAGCGTCTGCATGAG 0.413000 61 307 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109186420 109186420 + Missense_Mutation SNP C C T rs146699038 by1000genomes TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr12:109186420C>T ENST00000326495.5 - 14 1628 c.1535G>A c.(1534-1536)cGg>cAg p.R512Q SSH1_ENST00000326470.5_Missense_Mutation_p.R523Q|SSH1_ENST00000551165.1_Missense_Mutation_p.R512Q|SSH1_ENST00000360239.3_Missense_Mutation_p.R200Q NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 512 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGAGAGTCGCCGGAAACAGCA 0.637000 7 254 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074660 9074660 + Silent SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr19:9074660G>T ENST00000397910.4 - 3 12989 c.12786C>A c.(12784-12786)atC>atA p.I4262I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4264 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TATGGCCTGGGATAGGAGAAT 0.468000 7 255 0.00307968 0.00316348 1 1 0 ZNF679 168417 broad.mit.edu 37 7 63720697 63720697 + Silent SNP A A G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr7:63720697A>G ENST00000421025.1 + 3 407 c.138A>G c.(136-138)ttA>ttG p.L46L ZNF679_ENST00000255746.4_Silent_p.L46L NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 ATGTGATGTTAGAGAACTACA 0.378000 7 809 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 50 227 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661721 22661721 + RNA SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr22:22661721G>T ENST00000426066.1 + 0 500 NR_027293.1 TTTTAGCTTTGTGCTTTTCCT 0.378000 4 71 0.00198382 0.00205176 1 1 0 ADAMTSL4 54507 broad.mit.edu 37 1 150530955 150530955 + Missense_Mutation SNP G G A rs138636937 TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:150530955G>A ENST00000271643.4 + 15 2625 c.2389G>A c.(2389-2391)Gtg>Atg p.V797M ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.V820M|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.V797M|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.V797M NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 797 TSP type-1 3. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TCAGTGCTCCGTGCGGTGCGG 0.647000 37 114 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45433521 45433521 + Nonsense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr15:45433521C>T ENST00000321429.4 + 15 2004 c.1597C>T c.(1597-1599)Cga>Tga p.R533* DUOX1_ENST00000389037.3_Nonsense_Mutation_p.R533*|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.R179* NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 533 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TGAAGAAATCCGAAATACCAC 0.527000 11 272 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32663260 32663260 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chrX:32663260C>T ENST00000357033.4 - 10 1176 c.970G>A c.(970-972)Gct>Act p.A324T DMD_ENST00000378677.2_Missense_Mutation_p.A320T|DMD_ENST00000288447.4_Missense_Mutation_p.A316T NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 324 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTTCAGGAGCTTCCAAATGC 0.348000 8 437 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103027117 103027117 + Splice_Site SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:103027117G>T ENST00000375735.2 + 26 3889 c.3744_splice c.e26-1 p.D1249_splice DYNC2H1_ENST00000398093.3_Splice_Site_p.D1249_splice|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1249 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGTTAAATAGGATTTAAATAG 0.284000 21 102 2.70639e-06 2.89834e-06 1 1 0 PPARGC1A 10891 broad.mit.edu 37 4 23830129 23830129 + Silent SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr4:23830129G>A ENST00000264867.2 - 5 770 c.651C>T c.(649-651)aaC>aaT p.N217N PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 217 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GAGGGTCATCGTTTGTGGTCA 0.468000 12 553 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153134383 153134383 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chrX:153134383G>A ENST00000370060.1 - 12 1481 c.1292C>T c.(1291-1293)gCg>gTg p.A431V L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 431 Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGATTGTCCGCAGTCAGGAT 0.617000 5 269 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 79971679 79971679 + Missense_Mutation SNP T T G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:79971679T>G ENST00000466387.1 + 7 993 c.269T>G c.(268-270)gTg>gGg p.V90G CTNNA2_ENST00000540488.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V90G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V124G P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 90 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GAAGAGTTGGTGGCTGCTGTA 0.443000 5 162 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128480725 128480725 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr7:128480725G>A ENST00000325888.8 + 10 1934 c.1673G>A c.(1672-1674)cGc>cAc p.R558H FLNC_ENST00000346177.6_Missense_Mutation_p.R558H NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 558 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 GCCATCCCTCGCAGGTGAGTA 0.637000 43 338 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688929 60688929 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:60688929G>A ENST00000335712.6 - 4 1345 c.1118C>T c.(1117-1119)cCg>cTg p.P373L BCL11A_ENST00000356842.4_Missense_Mutation_p.P373L|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.P339L|BCL11A_ENST00000538214.1_Missense_Mutation_p.P339L NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 373 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GGACTTGACCGGGGGCTGGGA 0.627000 T IGH@ B-CLL 44 217 0 0 1 0 0 PHF8 23133 broad.mit.edu 37 X 54069187 54069187 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chrX:54069187C>T ENST00000357988.5 - 2 441 c.83G>A c.(82-84)cGc>cAc p.R28H PHF8_ENST00000338946.6_5'UTR|PHF8_ENST00000338154.6_5'UTR|PHF8_ENST00000322659.8_5'UTR NM_001184896.1 NP_001171825.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 28 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GAGCGTTCTGCGGCCGGCCAG 0.597000 OREG0019805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 39 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155451469 155451469 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr6:155451469C>T ENST00000461783.3 + 6 2385 c.1112C>T c.(1111-1113)gCg>gTg p.A371V TIAM2_ENST00000529824.2_Missense_Mutation_p.A371V|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.A371V|TIAM2_ENST00000456144.1_Missense_Mutation_p.A371V|TIAM2_ENST00000360366.4_Missense_Mutation_p.A371V Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 371 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GAGGATACTGCGAAGAAGGAC 0.547000 12 199 0 0 1 0 0 VPS25 84313 broad.mit.edu 37 17 40925498 40925498 + Missense_Mutation SNP C C A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:40925498C>A ENST00000253794.2 + 1 45 c.5C>A c.(4-6)gCg>gAg p.A2E NM_032353.2 NP_115729.1 Q9BRG1 VPS25_HUMAN vacuolar protein sorting 25 homolog (S. cerevisiae) 2 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endosome membrane|nucleoplasm breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1) 5 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) ACTACGATGGCGATGAGTTTC 0.612000 88 552 4.25105e-50 4.75488e-50 1 1 0 HIST1H2BF 8343 broad.mit.edu 37 6 26199947 26199947 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr6:26199947G>A ENST00000359985.1 + 1 200 c.161G>A c.(160-162)gGc>gAc p.G54D NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) CCCGACACCGGCATCTCATCC 0.567000 7 855 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 9 235 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71742844 71742844 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:71742844C>T ENST00000258104.3 + 7 1032 c.755C>T c.(754-756)aCg>aTg p.T252M DYSF_ENST00000413539.2_Missense_Mutation_p.T283M|DYSF_ENST00000410020.3_Missense_Mutation_p.T284M|DYSF_ENST00000409582.3_Missense_Mutation_p.T283M|DYSF_ENST00000409651.1_Missense_Mutation_p.T284M|DYSF_ENST00000410041.1_Missense_Mutation_p.T284M|DYSF_ENST00000409366.1_Missense_Mutation_p.T253M|DYSF_ENST00000394120.2_Missense_Mutation_p.T253M|DYSF_ENST00000409762.1_Missense_Mutation_p.T283M|DYSF_ENST00000409744.1_Missense_Mutation_p.T253M|DYSF_ENST00000429174.2_Missense_Mutation_p.T252M NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 252 C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ACCAAGCGGACGCGGATCCAC 0.612000 10 239 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105673026 105673026 + Silent SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr7:105673026G>A ENST00000542731.1 + 19 2649 c.2541G>A c.(2539-2541)gcG>gcA p.A847A CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000317716.9_Silent_p.A847A|CDHR3_ENST00000478080.1_Silent_p.A759A Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 847 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 GTGGCAAAGCGTGGGCTGAGG 0.577000 9 163 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316158 125316158 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr9:125316158G>A ENST00000373688.2 + 1 768 c.710G>A c.(709-711)cGc>cAc p.R237H NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 237 R -> C (in dbSNP:rs41316976). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 TCCTATGTCCGCATTTTCTGG 0.517000 5 513 0 0 1 0 0 COQ3 51805 broad.mit.edu 37 6 99831606 99831606 + Silent SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr6:99831606G>A ENST00000254759.3 - 2 225 c.201C>T c.(199-201)atC>atT p.I67I COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 67 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) AACAGGAAAAGATCGTCCTGT 0.338000 23 723 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94547520 94547520 + Missense_Mutation SNP T T G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr4:94547520T>G ENST00000282020.4 + 14 2552 c.2294T>G c.(2293-2295)gTt>gGt p.V765G GRID2_ENST00000510992.1_Missense_Mutation_p.V670G NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 765 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGAAATACTGTTGCTGATCGG 0.388000 20 512 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24831899 24831899 + Nonsense_Mutation SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr10:24831899G>T ENST00000376451.2 + 14 3009 c.2749G>T c.(2749-2751)Gaa>Taa p.E917* KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.E1234*|KIAA1217_ENST00000458595.1_Intron Q5T5P2 SKT_HUMAN KIAA1217 1234 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AAGAACATCAGAATATAAAAC 0.413000 41 152 2.6416e-12 2.84915e-12 1 1 0 EXTL1 2134 broad.mit.edu 37 1 26359784 26359784 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:26359784G>A ENST00000374280.3 + 8 2363 c.1496G>A c.(1495-1497)cGc>cAc p.R499H NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 499 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTCGATGCCCGCAGCAGTCTT 0.597000 4 157 0 0 1 0 0 KRT24 192666 broad.mit.edu 37 17 38857493 38857493 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:38857493G>A ENST00000264651.2 - 3 810 c.754C>T c.(754-756)Cgg>Tgg p.R252W NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 252 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) AGGACTTTCCGCAGGCCATTG 0.547000 11 266 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 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) GGACTCACTGAATAGATGTTA 0.473000 4 18 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603672 111603672 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr3:111603672G>A ENST00000431670.2 + 2 1159 c.748G>A c.(748-750)Gga>Aga p.G250R PHLDB2_ENST00000393925.3_Missense_Mutation_p.G250R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G277R|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G250R NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 250 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GAGTCACATGGGAGCCTACAG 0.507000 150 268 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187510153 187510153 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr4:187510153C>T ENST00000441802.2 - 27 13569 c.13360G>A c.(13360-13362)Gaa>Aaa p.E4454K NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4454 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.E4454K(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTGCTGAATTCGGGCGGTAAC 0.527000 HNSCC(5;0.00058) 25 903 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19049313 19049313 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr16:19049313G>A ENST00000421369.3 + 8 1351 c.793G>A c.(793-795)Gca>Aca p.A265T TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.A375T|TMC7_ENST00000304381.5_Missense_Mutation_p.A375T NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 375 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TGTTTTAGGGGCATGCTTTTA 0.398000 6 637 0 0 1 0 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305619 39305619 + Missense_Mutation SNP G G T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:39305619G>T ENST00000343246.4 - 1 435 c.401C>A c.(400-402)tCt>tAt p.S134Y NM_033188.3 NP_149445.3 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 139 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament p.S134Y(2) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ttcacagcaagaggggtggca 0.637000 5 146 0.0215528 0.0216964 1 1 0 AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:4772583_4772585delCCA ENST00000378191.4 + 2 1034_1036 c.653_655delCCA c.(652-657)gcc>g p.AT218del AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 218 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.T225_A226insT(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACTGTGGccgccaccaccaccac 0.635 7 101 --- --- --- --- NRD1 4898 broad.mit.edu 37 1 52290962 52290962 + Frame_Shift_Del DEL A A - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:52290962delA ENST00000354831.7 - 8 1426 c.1237delT c.(1237-1239)ggfs p.W413fs NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000485608.1_5'UTR NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 344 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ATCTTACCCCAAAAAAATTTT 0.318 9 1087 --- --- --- --- ZCCHC11 23318 broad.mit.edu 37 1 52991653 52991653 + Frame_Shift_Del DEL T T - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:52991653delT ENST00000371544.3 - 2 562 c.300delA c.(298-300)aafs p.K100fs ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.K100fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.K100fs NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 100 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AATTAGGAAATTTTTTTGCTT 0.388 7 921 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142699959 142699960 + RNA INS - - A rs74315780 TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:142699959_142699960insA ENST00000369381.2 - 0 2077 tatatatatatatatatCCAAA 0.257 4 8 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 11 481 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 7 122 --- --- --- --- AHCTF1 25909 broad.mit.edu 37 1 247024493 247024494 + Frame_Shift_Ins INS - - A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr1:247024493_247024494insA ENST00000366508.1 - 29 4080_4081 c.3944_3945insT c.(3943-3945)tctfs p.S1315fs AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.S1289fs|AHCTF1_ENST00000391829.2_Frame_Shift_Ins_p.S1280fs|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1280 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GGCTGTTCAGGAAAAAAGATGT 0.401 48 366 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 8 696 --- --- --- --- ZC3H8 84524 broad.mit.edu 37 2 112988508 112988512 + Frame_Shift_Del DEL TTCTT TTCTT - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr2:112988508_112988512delTTCTT ENST00000409573.1 - 8 988_992 c.859_863delAAGAA c.(859-864)gfs p.KK287fs ZC3H8_ENST00000476902.1_5'UTR|ZC3H8_ENST00000272570.5_Frame_Shift_Del_p.KK287fs Q8N5P1 ZC3H8_HUMAN zinc finger CCCH-type containing 8 287 apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis nucleus RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 7 TTTACATGACTTCTTTTCAGTATCC 0.268 2 4 --- --- --- --- NFKBIZ 64332 broad.mit.edu 37 3 101575980 101575980 + Frame_Shift_Del DEL C C - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr3:101575980delC ENST00000326172.5 + 10 2003 c.1888delC c.(1888-1890)gcfs p.R630fs NFKBIZ_ENST00000394054.2_Frame_Shift_Del_p.R530fs|NFKBIZ_ENST00000326151.5_Frame_Shift_Del_p.R508fs NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 630 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 GGAACTCATTCGCCTCTTTTT 0.463 54 381 --- --- --- --- WDR52 55779 broad.mit.edu 37 3 113098247 113098249 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr3:113098247_113098249delTCC ENST00000393845.2 - 17 2268_2270 c.2202_2204delGGA c.(2200-2205)gaa>ga p.EE736del WDR52_ENST00000295868.2_In_Frame_Del_p.EE736del NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 736 Glu-rich. breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 TGGctcttcttcctcctcctcct 0.458 7 414 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCTGC 0.581 T CAMTA1 epitheliod hemangioendothelioma 9 262 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412094 105412096 + In_Frame_Del DEL GAG GAG - rs146939312 TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr4:105412094_105412096delGAG ENST00000394767.2 - 2 1314_1316 c.864_866delCTC c.(862-867)tcg>tc p.SS290del CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del|AC093628.1_ENST00000606234.1_RNA 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 7 318 --- --- --- --- CTD-2139B15.2 0 broad.mit.edu 37 5 17354204 17354205 + RNA INS - - T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr5:17354204_17354205insT ENST00000511821.1 + 0 101 FTH1P10_ENST00000401830.3_RNA ACTGATTCACATTTTTTTCCAA 0.465 91 587 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 8 467 --- --- --- --- ZNF165 7718 broad.mit.edu 37 6 28056524 28056525 + Frame_Shift_Del DEL AG AG - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr6:28056524_28056525delAG ENST00000377325.1 + 4 1290_1291 c.734_735delAG c.(733-735)cfs p.Q245fs NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 245 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGGGAGTCTCAGAGACTCTCGT 0.446 15 318 --- --- --- --- SMAP1 60682 broad.mit.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr6:71508370delA ENST00000370455.3 + 6 754 c.506delA c.(505-507)gafs p.E169fs SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 aaagaaaaggaaaaaaaaaag 0.289 7 79 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr6:129959602_129959603insT ENST00000368149.2 - 3 576_577 c.488_489insA c.(487-489)aaafs p.K163fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 163 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GGTACTGTTTGTTTTTTTTCCT 0.421 7 688 --- --- --- --- TRGJP 0 broad.mit.edu 37 7 38313227 38313227 + RNA DEL T T - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr7:38313227delT ENST00000390338.2 - 0 21 AATACCTTGATTTTTTTGCCC 0.388 7 653 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 9 34 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6302639 6302639 + Frame_Shift_Del DEL A A - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr8:6302639delA ENST00000344683.5 + 8 1472 c.1396delA c.(1396-1398)aafs p.K467fs MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K467fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K419fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 467 microtubule organizing center p.T468fs*32(2) AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) CTGCGTTGGCAAAAAAACCAG 0.443 8 484 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142444235 142444238 + RNA DEL GGGT GGGT - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr8:142444235_142444238delGGGT ENST00000430863.1 - 0 3937 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GGTGTTGGGGGGGTGGGGGGTGGG 0.637 3 4 --- --- --- --- RP11-262H14.1 0 broad.mit.edu 37 9 66464060 66464061 + RNA DEL AC AC - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr9:66464060_66464061delAC ENST00000424345.1 + 0 224 GTTTTTCCTGACACCTCTCCTT 0.490 2 4 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr9:140087025_140087027delTCC ENST00000409012.4 - 2 1928_1930 c.1842_1844delGGA c.(1840-1845)gaa>ga p.EE620del TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 620 Glu-rich. sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctcttcctcttcctcctcctcct 0.596 8 85 --- --- --- --- RTKN2 219790 broad.mit.edu 37 10 63958149 63958149 + Frame_Shift_Del DEL T T - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr10:63958149delT ENST00000373789.3 - 12 1444 c.1348delA c.(1348-1350)ttfs p.I450fs RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 450 signal transduction intracellular p.I450fs*67(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) GTCTCTTCAATTTTTTTTTGT 0.333 7 403 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88754812 88754813 + RNA INS - - ATA rs71019443 TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr10:88754812_88754813insATA ENST00000444431.1 + 0 335 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AATTGATGATGataataatagt 0.292 6 7 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 9 683 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_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 9 1122 --- --- --- --- PHF21A 51317 broad.mit.edu 37 11 46001356 46001358 + In_Frame_Del DEL GTG GTG - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:46001356_46001358delGTG ENST00000257821.4 - 6 936_938 c.313_315delCAC c.(313-315)del p.H105del PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 105 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 actgctgggcgtggtggtggtgg 0.488 7 342 --- --- --- --- ATL3 25923 broad.mit.edu 37 11 63420049 63420050 + Splice_Site INS - - A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:63420049_63420050insA ENST00000398868.3 - 4 682 c.e4-2 ATL3_ENST00000332645.4_Splice_Site|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Splice_Site NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 AACTGCAACCTAAAAAAAAGGA 0.371 7 284 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525655 63525656 + Frame_Shift_Ins INS - - A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:63525655_63525656insA ENST00000377819.5 + 9 3235_3236 c.3081_3082insA c.(3079-3084)gcaaaafs p.AK1027fs RTN3_ENST00000540798.1_Frame_Shift_Ins_p.AK915fs|RTN3_ENST00000341307.2_Frame_Shift_Ins_p.K212fs|RTN3_ENST00000339997.4_Frame_Shift_Ins_p.AK1008fs|RTN3_ENST00000354497.4_Frame_Shift_Ins_p.Q146fs|RTN3_ENST00000537981.1_Frame_Shift_Ins_p.AK231fs|RTN3_ENST00000356000.3_Frame_Shift_Ins_p.AK250fs NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 1027 Interaction with FADD.|Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CTGGAATCGCCAAAAAAAAGGC 0.337 8 322 --- --- --- --- SIK2 23235 broad.mit.edu 37 11 111594482 111594482 + Frame_Shift_Del DEL T T - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:111594482delT ENST00000304987.3 + 15 2583 c.2410delT c.(2410-2412)ccfs p.S804fs NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 804 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 GCCCCTGCCCTCCACTTCCGG 0.672 7 918 --- --- --- --- PRDM10 56980 broad.mit.edu 37 11 129772249 129772251 + In_Frame_Del DEL TGG TGG - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr11:129772249_129772251delTGG ENST00000358825.5 - 22 3671_3673 c.3440_3442delCCA c.(3439-3444)aac>a p.TN1147del PRDM10_ENST00000304538.6_In_Frame_Del_p.TN1010del|PRDM10_ENST00000526082.1_In_Frame_Del_p.TN1061del|PRDM10_ENST00000423662.2_In_Frame_Del_p.TN1048del|PRDM10_ENST00000360871.3_In_Frame_Del_p.TN1143del|PRDM10_ENST00000528746.1_In_Frame_Del_p.TN1104del NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 1134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CCGTTCCCGTTGGTGGTGGTGGT 0.547 7 672 --- --- --- --- LINC00477 0 broad.mit.edu 37 12 24736734 24736735 + RNA INS - - A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr12:24736734_24736735insA ENST00000483544.1 - 0 367_368 NR_029451.2 AGGCGAAGAAGAAAAAAAAATC 0.569 7 275 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 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 1042 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 192 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 7 880 --- --- --- --- ESD 2098 broad.mit.edu 37 13 47354112 47354112 + Frame_Shift_Del DEL T T - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr13:47354112delT ENST00000378720.3 - 8 740 c.558delA c.(556-558)aafs p.K186fs ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 186 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) CACTAAAGGCTTTTTTGCCCC 0.353 7 805 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 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 7 258 --- --- --- --- RP11-58E21.5 0 broad.mit.edu 37 14 50517576 50517577 + RNA INS - - AA TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr14:50517576_50517577insAA ENST00000556019.2 - 0 186 GCCCTGGAGTCAGACTGCTACC 0.515 7 203 --- --- --- --- CTD-2509G16.2 0 broad.mit.edu 37 14 65685934 65685934 + RNA DEL T T - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr14:65685934delT ENST00000531609.1 - 0 129 NR_103769.1 TCTGGCTCTAttttttttttt 0.418 3 4 --- --- --- --- ITGAL 0 broad.mit.edu 37 16 30531249 30531251 + In_Frame_Del DEL GCT GCT - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr16:30531249_30531251delGCT ENST00000356798.6 + 30 3480_3482 c.3300_3302delGCT c.(3298-3303)ggg>gg p.GL1100del ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1100 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCATCGGGGGGCTGCTGCTGCTG 0.601 8 908 --- --- --- --- RP5-837J1.2 0 broad.mit.edu 37 17 33332963 33332963 + RNA DEL T T - rs34477990 TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:33332963delT ENST00000578488.1 + 0 857 TATCACAGTATTTTTTTTTTT 0.323 3 3 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 9 162 --- --- --- --- PLEKHM1P 0 broad.mit.edu 37 17 62788247 62788248 + RNA DEL TG TG - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr17:62788247_62788248delTG ENST00000582986.1 - 0 2143 NR_024386.1 GCACTGCCCTtgtgtgtgtgtg 0.505 2 4 --- --- --- --- CTC-439O9.3 0 broad.mit.edu 37 19 31670636 31670638 + RNA DEL GGT GGT - rs139984397 TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr19:31670636_31670638delGGT ENST00000589511.1 + 0 223 gatgatggtaggtggtggtggtg 0.502 3 4 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 7 213 --- --- --- --- RAI2 10742 broad.mit.edu 37 X 17818550 17818550 + Frame_Shift_Del DEL A A - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chrX:17818550delA ENST00000545871.1 - 3 2041 c.1581delT c.(1579-1581)ttfs p.F527fs RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 527 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) ACTTTCTTGGAAAAAAGGTGG 0.333 9 1826 --- --- --- --- ERCC6L 54821 broad.mit.edu 37 X 71427535 71427536 + Frame_Shift_Ins INS - - G TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fea1f02f-d937-4ce1-99cc-b1253242f1cf 84813019-93c1-4f1c-8103-a43c6b33b120 g.chrX:71427535_71427536insG ENST00000373657.1 - 3 1314_1315 c.712_713insC c.(712-714)ttcfs p.F238fs ERCC6L_ENST00000334463.3_Frame_Shift_Ins_p.F361fs|PIN4_ENST00000423432.2_Intron Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 361 Helicase ATP-binding. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) TTTCCTGGAAAGGGAAGGCATT 0.366 150 561 --- --- --- ---