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 TAF3 83860 broad.mit.edu 37 10 8006092 8006092 + Missense_Mutation SNP G G T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:8006092G>T ENST00000344293.5 + 3 825 c.619G>T c.(619-621)Gtt>Ttt p.V207F NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 207 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 CACGCTAGATGTTGTGTTATT 0.488000 18 162 8.04996e-18 8.98782e-18 1 1 0 CT47B1 643311 broad.mit.edu 37 X 120007830 120007830 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chrX:120007830C>T ENST00000371311.3 - 2 1074 c.820G>A c.(820-822)Gat>Aat p.D274N NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 274 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CCTGCAGCATCTTGGGCCTCT 0.463000 25 556 0 0 1 0 0 GLS2 27165 broad.mit.edu 37 12 56871719 56871719 + Missense_Mutation SNP T T G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:56871719T>G ENST00000311966.4 - 6 1054 c.776A>C c.(775-777)gAa>gCa p.E259A NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 259 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTGCTCACCTTCCTCATTGAG 0.527000 13 365 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41559142 41559142 + Splice_Site SNP T T A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr8:41559142T>A ENST00000396942.1 - 22 2472 c.e22-2 ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000347528.4_Splice_Site P16157 ANK1_HUMAN ankyrin 1, erythrocytic axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACTGACTAACTAAAACGAGAA 0.468000 OREG0018740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 92 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102445654 102445654 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr14:102445654A>T ENST00000360184.4 + 3 508 c.e3-1 NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TTTTCTTTTTAGCTTGGCATT 0.358000 6 141 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26848562 26848562 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:26848562C>T ENST00000381340.3 - 10 1389 c.973G>A c.(973-975)Gcc>Acc p.A325T NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 325 MIR 4. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCATTTTGGGCATCTCGATAA 0.299000 18 84 0 0 1 0 0 ARPC2 10109 broad.mit.edu 37 2 219099073 219099073 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:219099073A>T ENST00000295685.10 + 4 483 c.e4-1 ARPC2_ENST00000315717.5_Splice_Site NM_005731.2 NP_005722.1 O15144 ARPC2_HUMAN actin related protein 2/3 complex, subunit 2, 34kDa cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 6 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) TTTATTTTCTAGTTATTAAAG 0.363000 8 210 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10442759 10442759 + Splice_Site SNP A A G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:10442759A>G ENST00000245503.5 - 13 1651 c.e13+1 MYH2_ENST00000532183.1_Splice_Site|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTATGCACCTACCTGTTCTAC 0.443000 91 235 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 160 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24564874 24564874 + Missense_Mutation SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:24564874C>A ENST00000319715.4 + 4 776 c.344C>A c.(343-345)aCa>aAa p.T115K RBBP6_ENST00000348022.2_Missense_Mutation_p.T115K|RBBP6_ENST00000381039.3_Missense_Mutation_p.T115K NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 115 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) GCCCAGCTTACAAAGGTATAT 0.323000 10 53 0.000978159 0.00101341 1 1 0 LAMA1 284217 broad.mit.edu 37 18 7046368 7046368 + Splice_Site SNP T T A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr18:7046368T>A ENST00000389658.3 - 6 862 c.e6-2 NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATAATAATACTAAGGAAAAAG 0.338000 5 89 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10101473 10101473 + Missense_Mutation SNP G G C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:10101473G>C ENST00000324907.9 + 4 713 c.577G>C c.(577-579)Gac>Cac p.D193H GRHL1_ENST00000405379.2_Missense_Mutation_p.D193H|GRHL1_ENST00000324883.5_Silent_p.L29L NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 193 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TCTCAATACTGACCAGTTCAG 0.542000 51 146 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26919344 26919344 + Silent SNP T T C rs113667723 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:26919344T>C ENST00000321765.5 - 3 1250 c.918A>G c.(916-918)acA>acG p.T306T NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 306 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) GTGTCAGGCATGTGGACAGAA 0.453000 8 215 0 0 1 0 0 PITX2 5308 broad.mit.edu 37 4 111539589 111539589 + Missense_Mutation SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr4:111539589A>T ENST00000354925.2 - 7 2351 c.646T>A c.(646-648)Tct>Act p.S216T PITX2_ENST00000394595.3_Missense_Mutation_p.L147H|PITX2_ENST00000394598.2_Missense_Mutation_p.S216T|PITX2_ENST00000355080.5_Missense_Mutation_p.S170T|PITX2_ENST00000306732.3_Missense_Mutation_p.S223T NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 216 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) GACGAGATAGAGTTGGGTGGG 0.547000 55 138 0 0 1 0 0 PRKCI 5584 broad.mit.edu 37 3 170013697 170013697 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr3:170013697A>T ENST00000295797.4 + 15 1722 c.e15-1 NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TTATCTTTCTAGTTATTTTGG 0.308000 4 59 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82877725 82877725 + Missense_Mutation SNP A A G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:82877725A>G ENST00000298281.4 + 5 2238 c.1786A>G c.(1786-1788)Aga>Gga p.R596G NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 596 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex p.R695R(1)|p.R596R(1) cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 GTCTGCCAAAAGATGGAAATC 0.348000 47 141 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 161 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111555908 111555908 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:111555908C>T ENST00000428084.1 - 13 1390 c.1118G>A c.(1117-1119)aGg>aAg p.R373K DOCK4_ENST00000437633.1_Missense_Mutation_p.R373K|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 373 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TGAATATTCCCTTCTGATTTG 0.368000 7 31 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58604706 58604706 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr14:58604706A>T ENST00000267485.7 - 2 1564 c.e2+1 C14orf37_ENST00000334342.5_Splice_Site NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 TCTTTCTTTTACCTTTCATTG 0.323000 6 116 0 0 1 0 0 PAK1IP1 55003 broad.mit.edu 37 6 10709469 10709469 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:10709469A>T ENST00000379568.3 + 10 1255 c.e10-1 NM_017906.2 NP_060376.2 Q9NWT1 PK1IP_HUMAN PAK1 interacting protein 1 negative regulation of signal transduction nucleolus|plasma membrane kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.117) TTTGTGTTTTAGTAAGTAAAG 0.368000 7 79 0 0 1 0 0 CORO7 79585 broad.mit.edu 37 16 4412076 4412076 + Silent SNP G G T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:4412076G>T ENST00000251166.4 - 16 1633 c.1488C>A c.(1486-1488)acC>acA p.T496T CORO7_ENST00000574025.1_Silent_p.T411T|CORO7_ENST00000423908.2_Silent_p.T328T|CORO7-PAM16_ENST00000572467.1_Silent_p.T496T|CORO7_ENST00000539968.1_Silent_p.T276T|CORO7_ENST00000537233.2_Silent_p.T478T NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 CACCAGGTGTGGTGAGGTTGA 0.647000 2 3 0.0784 0.0790877 1 1 0 BUB1B 701 broad.mit.edu 37 15 40505655 40505655 + Silent SNP G G A rs146821149 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr15:40505655G>A ENST00000287598.6 + 20 2853 c.2658G>A c.(2656-2658)agG>agA p.R886R BUB1B_ENST00000412359.3_Silent_p.R900R NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 886 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TGAGTCCAAGGTGTCTGATTC 0.348000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 42 79 0 0 1 0 0 NEURL3 93082 broad.mit.edu 37 2 97164150 97164150 + RNA SNP T T C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:97164150T>C ENST00000310865.3 - 0 942 neuralized E3 ubiquitin protein ligase 3 GGCAGCGTGATAGAAGCAGAT 0.607000 36 63 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29319924 29319924 + Missense_Mutation SNP T T A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:29319924T>A ENST00000343067.4 + 3 678 c.551T>A c.(550-552)gTa>gAa p.V184E EPB41_ENST00000398863.2_Missense_Mutation_p.V184E|EPB41_ENST00000373797.1_Missense_Mutation_p.V184E|EPB41_ENST00000373798.1_Missense_Mutation_p.V184E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.V184E|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.V184E NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 184 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AAAATAGAAGTAAAAGAAGAA 0.388000 8 233 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17662260 17662260 + Silent SNP T T C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:17662260T>C ENST00000262077.2 - 10 1256 c.1257A>G c.(1255-1257)gaA>gaG p.E419E NUP153_ENST00000537253.1_Silent_p.E419E NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 419 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TTTCTCGTTGTTCTCTATTTT 0.303000 86 137 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44856401 44856401 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr3:44856401A>T ENST00000326047.4 + 20 2532 c.e20-1 KIF15_ENST00000425755.1_Splice_Site NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TTTGTTTTTTAGTTTTGAAAA 0.358000 5 100 0 0 1 0 0 CEP78 84131 broad.mit.edu 37 9 80856610 80856610 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr9:80856610A>T ENST00000424347.2 + 4 788 c.e4-1 CEP78_ENST00000277082.5_Splice_Site|CEP78_ENST00000415759.2_Splice_Site|CEP78_ENST00000376598.2_Splice_Site|CEP78_ENST00000376597.4_Splice_Site Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 TTTCCATTTTAGTTATTTGTC 0.338000 6 98 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40028034 40028034 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:40028034C>T ENST00000352035.2 - 25 2975 c.2845G>A c.(2845-2847)Gcc>Acc p.A949T ACLY_ENST00000393896.2_Missense_Mutation_p.A939T|ACLY_ENST00000353196.1_Missense_Mutation_p.A939T|ACLY_ENST00000537919.1_Missense_Mutation_p.A678T|ACLY_ENST00000590151.1_Missense_Mutation_p.A949T NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 949 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CTGTCAAAGGCTTTACTGAAC 0.502000 47 105 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10116808 10116808 + Missense_Mutation SNP C C T rs144021089 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:10116808C>T ENST00000264828.3 - 2 273 c.188G>A c.(187-189)cGg>cAg p.R63Q NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 63 TSP N-terminal. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCTGAATGCCCGGTCACCCTC 0.657000 4 23 0 0 1 0 0 MSL1 339287 broad.mit.edu 37 17 38289885 38289885 + Missense_Mutation SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:38289885C>A ENST00000398532.3 + 7 1970 c.1655C>A c.(1654-1656)aCc>aAc p.T552N MSL1_ENST00000578648.1_Missense_Mutation_p.T536N|MSL1_ENST00000579565.1_Missense_Mutation_p.T289N Q68DK7 MSL1_HUMAN male-specific lethal 1 homolog (Drosophila) 552 histone H4-K16 acetylation MSL complex endometrium(1)|kidney(2)|large_intestine(2)|lung(2) 7 CCTGAGGTTACCTCATTTTTC 0.433000 4 83 0.014758 0.0150192 1 1 0 GPR158 57512 broad.mit.edu 37 10 25887796 25887796 + Missense_Mutation SNP A A C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:25887796A>C ENST00000376351.3 + 11 3600 c.3241A>C c.(3241-3243)Att>Ctt p.I1081L GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1081 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AGGCCAGTCCATTTTGGAAGA 0.502000 73 203 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135307659 135307659 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:135307659C>T ENST00000285968.6 + 31 4491 c.4465C>T c.(4465-4467)Cat>Tat p.H1489Y NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1489 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TTGTGATGGTCATGAGATTGG 0.388000 40 134 0 0 1 0 0 CYTH1 9267 broad.mit.edu 37 17 76692093 76692093 + Splice_Site SNP T T A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:76692093T>A ENST00000589297.1 - 10 1327 c.e10-2 CYTH1_ENST00000591455.1_Intron|CYTH1_ENST00000585509.1_Splice_Site|CYTH1_ENST00000361101.4_Intron|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Splice_Site Q15438 CYH1_HUMAN cytohesin 1 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 ACATACCTCCTGGAGTTTGGG 0.388000 42 84 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91667731 91667731 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:91667731A>T ENST00000359028.2 + 18 4599 c.e18-1 AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_Splice_Site Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTATTTCTTTAGGTTATTGTG 0.299000 T BRAF papillary thyroid 5 78 0 0 1 0 0 UXS1 80146 broad.mit.edu 37 2 106717553 106717553 + Silent SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:106717553C>A ENST00000283148.7 - 12 1042 c.945G>T c.(943-945)gtG>gtT p.V315V UXS1_ENST00000428048.2_Silent_p.V154V|UXS1_ENST00000540130.1_Silent_p.V253V|UXS1_ENST00000409501.3_Silent_p.V310V|UXS1_ENST00000409032.1_Silent_p.V142V NM_001253875.1|NM_025076.4 NP_001240804.1|NP_079352.2 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 310 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 TCATGAGAGCCACGAGGCCAT 0.557000 47 262 2.27781e-18 2.56812e-18 1 1 0 PPM1B 5495 broad.mit.edu 37 2 44457623 44457623 + Missense_Mutation SNP T T G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:44457623T>G ENST00000282412.4 + 6 1618 c.1206T>G c.(1204-1206)aaT>aaG p.N402K PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000378540.4_Intron|PPM1B_ENST00000345249.4_Missense_Mutation_p.N115K|PPM1B_ENST00000409432.3_3'UTR NM_002706.4 NP_002697.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 402 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGAGAATTAATCATAGGGGAA 0.473000 21 67 0 0 1 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61404307 61404307 + RNA SNP G G T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:61404307G>T ENST00000496593.1 + 0 911 NR_002775.2 GCAAGGCCGTGGTGCTGATGG 0.552000 16 46 3.45872e-05 3.68289e-05 1 1 0 GRID1 2894 broad.mit.edu 37 10 87966299 87966299 + Silent SNP G G C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:87966299G>C ENST00000327946.7 - 3 427 c.342C>G c.(340-342)ctC>ctG p.L114L NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 114 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GCTGGACAAAGAGGTGTGGGA 0.632000 Multiple Myeloma(13;0.14) 50 117 0 0 1 0 0 DNAJB12 54788 broad.mit.edu 37 10 74100574 74100574 + Silent SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:74100574C>T ENST00000338820.3 - 5 947 c.798G>A c.(796-798)agG>agA p.R266R DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000394903.2_Silent_p.R266R|DNAJB12_ENST00000444643.2_Silent_p.R232R NM_001002762.2 NP_001002762.2 Q9NXW2 DJB12_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 12 232 protein folding endoplasmic reticulum|integral to membrane heat shock protein binding|unfolded protein binding endometrium(1)|large_intestine(2)|skin(1) 4 TGCGGTCCTGCCTTTGCTGGT 0.642000 15 28 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114967253 114967253 + Missense_Mutation SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:114967253C>A ENST00000358465.2 - 10 1903 c.1820G>T c.(1819-1821)gGc>gTc p.G607V TRIM33_ENST00000450349.2_Missense_Mutation_p.G215V|TRIM33_ENST00000369543.2_Missense_Mutation_p.G607V NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 607 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATATTGAGGGCCGCTGTGCCT 0.433000 T RET papillary thyroid 61 130 9.12251e-31 1.04909e-30 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20599967 20599967 + Missense_Mutation SNP G G A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr4:20599967G>A ENST00000504154.1 + 33 3893 c.3641G>A c.(3640-3642)cGt>cAt p.R1214H SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227H NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1214 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TATCGGGGGCGTGTTCGTGCC 0.473000 82 113 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11224382 11224382 + Silent SNP G G A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:11224382G>A ENST00000558518.1 + 10 1717 c.1530G>A c.(1528-1530)acG>acA p.T510T LDLR_ENST00000558013.1_Silent_p.T510T|LDLR_ENST00000557933.1_Silent_p.T510T|LDLR_ENST00000535915.1_Silent_p.T469T|LDLR_ENST00000545707.1_Silent_p.T383T|LDLR_ENST00000455727.2_Silent_p.T342T NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 510 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) AGAGGAAAACGTTATTCAGGG 0.582000 19 47 0 0 1 0 0 NCAPH2 29781 broad.mit.edu 37 22 50954874 50954874 + Splice_Site SNP A A C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr22:50954874A>C ENST00000395701.3 + 2 202 c.e2-1 NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000395698.3_Splice_Site|NCAPH2_ENST00000420993.2_Splice_Site Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) TGTTTCTTGCAGCTGGATCAG 0.537000 10 51 0 0 1 0 0 RBM43 375287 broad.mit.edu 37 2 152112099 152112099 + Missense_Mutation SNP T T C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:152112099T>C ENST00000331426.5 - 2 313 c.162A>G c.(160-162)atA>atG p.I54M NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 54 RRM. nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) TTGTCGGATATATCACATCTT 0.338000 59 132 0 0 1 0 0 AEBP2 121536 broad.mit.edu 37 12 19646732 19646732 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:19646732A>T ENST00000266508.9 + 4 988 c.e4-1 AEBP2_ENST00000398864.3_Splice_Site|AEBP2_ENST00000541908.1_Splice_Site|AEBP2_ENST00000360995.4_Splice_Site NM_153207.4 NP_694939.2 Q6ZN18 AEBP2_HUMAN AE binding protein 2 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) ATTTTCTTTTAGTGTGTTGTT 0.418000 8 61 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62670706 62670706 + Missense_Mutation SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:62670706A>T ENST00000337910.5 - 4 572 c.235T>A c.(235-237)Tct>Act p.S79T RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S79T NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 79 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) AGCCTGAGAGAAACACTCACT 0.488000 40 104 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24587957 24587957 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr14:24587957A>T ENST00000446197.3 + 8 1451 c.e8-1 DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 CUL4 RING ubiquitin ligase complex protein binding TGCTTCTCTTAGTTCATATCT 0.463000 13 314 0 0 1 0 0 WDR46 9277 broad.mit.edu 37 6 33254931 33254931 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:33254931C>T ENST00000374617.4 - 9 1308 c.952G>A c.(952-954)Ggg>Agg p.G318R NM_001164267.1|NM_005452.5 NP_001157739.1|NP_005443.3 O15213 WDR46_HUMAN WD repeat domain 46 318 NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 20 TCGAGCCGCCCAGCTCGAGCA 0.502000 56 150 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9914789 9914789 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chrX:9914789C>T ENST00000380913.3 + 10 4753 c.4663C>T c.(4663-4665)Cgc>Tgc p.R1555C SHROOM2_ENST00000418909.2_Missense_Mutation_p.R390C NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1555 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity p.R1555C(1) breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CCTGGACCGCCGCGAGCGCAT 0.547000 8 18 0 0 1 0 0 CSTF3 1479 broad.mit.edu 37 11 33123767 33123767 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:33123767C>T ENST00000323959.4 - 10 921 c.782G>A c.(781-783)aGc>aAc p.S261N TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 261 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 AAGAGGGTTGCTCTTTTCCCA 0.433000 27 104 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122369710 122369710 + Missense_Mutation SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:122369710A>T ENST00000288912.4 + 4 1660 c.806A>T c.(805-807)gAa>gTa p.E269V WDR66_ENST00000397454.2_Missense_Mutation_p.E269V NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 269 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) ATTCGAGAGGAAAGGCAGAGA 0.453000 45 108 0 0 1 0 0 TMEM214 54867 broad.mit.edu 37 2 27256957 27256957 + Silent SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:27256957C>A ENST00000238788.9 + 2 236 c.174C>A c.(172-174)acC>acA p.T58T TMEM214_ENST00000404032.3_Silent_p.T58T NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 58 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CCACAAGCACCCTTTATGAGC 0.547000 91 160 7.22319e-40 8.39058e-40 1 1 0 C1S 716 broad.mit.edu 37 12 7172402 7172402 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:7172402A>T ENST00000406697.1 + 9 1145 c.e9-1 C1S_ENST00000328916.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000402681.3_Splice_Site P09871 C1S_HUMAN complement component 1, s subcomponent complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTTCTCTGTTAGTTAATTGCA 0.418000 15 193 0 0 1 0 0 CTPS1 1503 broad.mit.edu 37 1 41471734 41471734 + Missense_Mutation SNP A A G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:41471734A>G ENST00000372621.4 + 13 1772 c.1264A>G c.(1264-1266)Aca>Gca p.T422A CTPS1_ENST00000541520.1_Missense_Mutation_p.T191A|CTPS1_ENST00000372616.1_Missense_Mutation_p.T422A NM_001905.2 NP_001896.2 P17812 PYRG1_HUMAN CTP synthase 1 422 Glutamine amidotransferase type-1. CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding endometrium(3)|lung(10) 13 L-Glutamine(DB00130) TGCCAATTCTACAGAGTTTGA 0.408000 37 117 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75054987 75054987 + Missense_Mutation SNP C C G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:75054987C>G ENST00000453279.2 - 9 1441 c.577G>C c.(577-579)Gaa>Caa p.E193Q POM121C_ENST00000257665.5_Missense_Mutation_p.E435Q|POM121C_ENST00000473168.1_5'UTR NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 435 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 CACAGCTCTTCTTCTCTGTTG 0.453000 11 21 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55399613 55399613 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:55399613C>T ENST00000355524.3 + 4 611 c.601C>T c.(601-603)Ccc>Tcc p.P201S FCAR_ENST00000359272.4_Missense_Mutation_p.P189S|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.P201S|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000353758.4_Missense_Mutation_p.P92S|FCAR_ENST00000391725.3_Intron NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 201 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CAACAGGAGCCCCTACCTGTG 0.582000 8 27 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17023321 17023321 + RNA SNP T T G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:17023321T>G ENST00000492551.1 - 0 1626 NR_026567.1 GTCAGCCCCTTGCTCTGTGGC 0.637000 4 57 0 0 1 0 0 VHL 7428 broad.mit.edu 37 3 10191488 10191488 + Nonsense_Mutation SNP C C T rs5030818 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr3:10191488C>T ENST00000256474.2 + 3 1321 c.481C>T c.(481-483)Cga>Tga p.R161* VHL_ENST00000345392.2_Nonsense_Mutation_p.R120*|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 161 Interaction with Elongin BC complex. R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I).|R -> Q (in pheochromocytoma and VHLD; type II). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.R161*(13)|p.E160fs*9(2)|p.R161del(1)|p.R161fs*13(1)|p.?fs(1)|p.L158fs*6(1)|p.E160fs*13(1)|p.R161fs*9(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) TCTGAAAGAGCGATGCCTCCA 0.502000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 18 38 0 0 1 0 0 WDR83 84292 broad.mit.edu 37 19 12783897 12783897 + Missense_Mutation SNP T T A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:12783897T>A ENST00000418543.3 + 9 999 c.650T>A c.(649-651)cTc>cAc p.L217H WDR83_ENST00000242796.4_Missense_Mutation_p.L217H NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 217 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 ACATTGCGGCTCCTGGACAAA 0.657000 42 86 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37428925 37428925 + Silent SNP A A T rs148813970 by1000genomes TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:37428925A>T ENST00000234170.5 - 16 3292 c.3147T>A c.(3145-3147)acT>acA p.T1049T AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000392061.2_Intron NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 1049 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TTTGTTTTTTAGTTTTTTGAG 0.294000 4 29 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 32974970 32974970 + Missense_Mutation SNP T T A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:32974970T>A ENST00000375030.2 + 7 758 c.140T>A c.(139-141)aTa>aAa p.I47K C10orf68_ENST00000375025.4_Missense_Mutation_p.I39K|C10orf68_ENST00000375028.3_Missense_Mutation_p.I53K Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 39 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 AAATTACAAATAAAGAAACAA 0.289000 4 52 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47162162 47162162 + Nonsense_Mutation SNP G G A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr3:47162162G>A ENST00000409792.3 - 3 4006 c.3964C>T c.(3964-3966)Cga>Tga p.R1322* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1322 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.R819*(2)|p.R1322*(2) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CCTTGAGTTCGATCATACACA 0.463000 """N, F, S, Mis""" clear cell renal carcinoma 57 106 0 0 1 0 0 MAEA 10296 broad.mit.edu 37 4 1305934 1305934 + Silent SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr4:1305934C>T ENST00000303400.4 + 2 300 c.237C>T c.(235-237)agC>agT p.S79S MAEA_ENST00000505839.1_Silent_p.S31S|MAEA_ENST00000505177.2_Silent_p.S79S|MAEA_ENST00000264750.6_Silent_p.S79S|MAEA_ENST00000514708.1_Silent_p.S79S|MAEA_ENST00000510794.1_Silent_p.S78S|MAEA_ENST00000452175.2_Silent_p.S68S NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 79 Extracellular and involved in cell to cell contact. cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) AGAAGCTCAGCGTCCTCAAGA 0.622000 15 28 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870416 51870416 + Missense_Mutation SNP G G A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:51870416G>A ENST00000371497.5 + 2 1306 c.419G>A c.(418-420)gGc>gAc p.G140D TSHZ2_ENST00000329613.6_Missense_Mutation_p.G137D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.G137D NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 140 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TACTGGTCAGGCCTGGGCCTT 0.512000 14 220 0 0 1 0 0 GRPEL1 80273 broad.mit.edu 37 4 7062876 7062876 + Nonsense_Mutation SNP G G A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr4:7062876G>A ENST00000264954.4 - 4 531 c.367C>T c.(367-369)Cag>Tag p.Q123* GRPEL1_ENST00000514056.1_5'UTR NM_025196.2 NP_079472.1 Q9HAV7 GRPE1_HUMAN GrpE-like 1, mitochondrial (E. coli) 123 protein folding|protein import into mitochondrial matrix mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 GGAACACACTGTGTTGCCTTC 0.463000 47 139 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6479378 6479378 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:6479378C>T ENST00000525074.1 - 3 674 c.280G>A c.(280-282)Gat>Aat p.D94N TRIM3_ENST00000537602.1_Missense_Mutation_p.D94N|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000345851.3_Missense_Mutation_p.D94N|TRIM3_ENST00000359518.3_Missense_Mutation_p.D94N NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 94 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGCCCCATCAGGTGCCTGC 0.647000 53 112 0 0 1 0 0 PCYOX1 51449 broad.mit.edu 37 2 70502098 70502098 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:70502098C>T ENST00000433351.2 + 4 530 c.502C>T c.(502-504)Cgc>Tgc p.R168C PCYOX1_ENST00000264441.5_Missense_Mutation_p.R168C|PCYOX1_ENST00000505044.2_Missense_Mutation_p.R91C|PCYOX1_ENST00000545138.1_Missense_Mutation_p.R90C NM_016297.3 NP_057381.3 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 168 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 AAGGATCTACCGCTACCAGTC 0.408000 7 221 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10783738 10783738 + Silent SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:10783738C>T ENST00000075503.3 - 5 877 c.357G>A c.(355-357)caG>caA p.Q119Q NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 119 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CACTGCAAATCTGCTCCAGAA 0.507000 HNSCC(73;0.22) 9 131 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172547460 172547460 + Nonsense_Mutation SNP G G T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:172547460G>T ENST00000367723.3 + 13 1943 c.1819G>T c.(1819-1821)Gaa>Taa p.E607* SUCO_ENST00000263688.3_Nonsense_Mutation_p.E455* NM_016227.2 NP_057311.2 SUN domain containing ossification factor TAGCATGGTGGAAGAATATGA 0.368000 4 59 1 1 1 1 0 PREP 5550 broad.mit.edu 37 6 105800954 105800954 + Splice_Site SNP T T A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:105800954T>A ENST00000369110.3 - 7 910 c.e7-2 NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) ATCAGATAACTAAAAAAGAAA 0.343000 10 151 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38573642 38573642 + Silent SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:38573642C>T ENST00000222345.6 + 3 1946 c.1437C>T c.(1435-1437)ccC>ccT p.P479P NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 479 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGGAAGTTCCCAAGGAGCAGC 0.672000 10 26 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37455860 37455860 + Missense_Mutation SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:37455860A>T ENST00000234170.5 - 2 621 c.476T>A c.(475-477)gTa>gAa p.V159E NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 159 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) ATCTTTCTTTACTTTCGGTGT 0.363000 8 173 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 70 0 0 1 0 0 ACSL3 2181 broad.mit.edu 37 2 223782769 223782769 + Missense_Mutation SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:223782769A>T ENST00000357430.3 + 6 1093 c.562A>T c.(562-564)Aca>Tca p.T188S ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 188 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) TTTAGTTGTTACATTATATGC 0.348000 T ETV1 prostate 7 161 0 0 1 0 0 PPP2R2A 5520 broad.mit.edu 37 8 26221235 26221235 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr8:26221235A>T ENST00000380737.3 + 8 1131 c.e8-1 PPP2R2A_ENST00000315985.7_Splice_Site NM_002717.3 NP_002708.1 protein phosphatase 2, regulatory subunit B, alpha kidney(1)|large_intestine(2)|ovary(1) 4 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155) ttttgttttTAGTGTTTGAAG 0.373000 4 25 0 0 1 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44751187 44751187 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr15:44751187A>T ENST00000260327.4 + 2 539 c.e2-1 CTDSPL2_ENST00000558966.1_Splice_Site|CTDSPL2_ENST00000396780.1_Splice_Site NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) tttCTCTTTTAGTTTTACATG 0.343000 7 64 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101095127 101095127 + Silent SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:101095127C>A ENST00000369162.2 - 21 3797 c.3453G>T c.(3451-3453)ctG>ctT p.L1151L NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1151 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TCATGTCTTTCAGCTTATCCA 0.368000 8 72 1.12685e-05 1.2111e-05 1 1 0 COL11A2 1302 broad.mit.edu 37 6 33140387 33140387 + Missense_Mutation SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:33140387C>A ENST00000341947.2 - 39 3045 c.2818G>T c.(2818-2820)Ggg>Tgg p.G940W COL11A2_ENST00000395197.1_Missense_Mutation_p.G880W|COL11A2_ENST00000374712.1_Missense_Mutation_p.G859W|COL11A2_ENST00000357486.1_Missense_Mutation_p.G919W|COL11A2_ENST00000374713.1_Missense_Mutation_p.G893W|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.G833W|COL11A2_ENST00000374708.4_Missense_Mutation_p.G854W|COL11A2_ENST00000374714.1_Missense_Mutation_p.G914W NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 940 Triple-helical region. Missing (in STL3). cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCTCTCTCCCCCATAGGGCCG 0.627000 19 38 1.36565e-18 1.55494e-18 1 1 0 ITPR2 3709 broad.mit.edu 37 12 26848561 26848561 + Missense_Mutation SNP G G C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:26848561G>C ENST00000381340.3 - 10 1390 c.974C>G c.(973-975)gCc>gGc p.A325G NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 325 MIR 4. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TTCATTTTGGGCATCTCGATA 0.303000 18 86 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186086589 186086589 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:186086589A>T ENST00000271588.4 + 77 11912 c.e77-1 HMCN1_ENST00000367492.2_Splice_Site NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTGTTGTTTTAGTTCCACCTT 0.403000 6 103 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32541877 32541877 + Missense_Mutation SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr9:32541877A>T ENST00000360538.2 - 3 2762 c.2646T>A c.(2644-2646)caT>caA p.H882Q TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 882 Interaction with TOP1.|Interaction with UBE2I.|Lys-rich. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) ttttctttttATGGTGTTTAG 0.373000 16 370 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118635189 118635189 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:118635189A>T ENST00000360388.4 + 8 1203 c.e8-1 NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) GTGTTTTTTTAGTTTTCAGGA 0.473000 5 101 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 8006092 8006092 + Missense_Mutation SNP G G T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr10:8006092G>T ENST00000344293.5 + 3 825 c.619G>T c.(619-621)Gtt>Ttt p.V207F NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 207 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 CACGCTAGATGTTGTGTTATT 0.488000 18 162 8.04996e-18 8.95558e-18 1 1 0 CT47B1 643311 broad.mit.edu 37 X 120007830 120007830 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chrX:120007830C>T ENST00000371311.3 - 2 1074 c.820G>A c.(820-822)Gat>Aat p.D274N NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 274 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CCTGCAGCATCTTGGGCCTCT 0.463000 25 556 0 0 1 0 0 GLS2 27165 broad.mit.edu 37 12 56871719 56871719 + Missense_Mutation SNP T T G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr12:56871719T>G ENST00000311966.4 - 6 1054 c.776A>C c.(775-777)gAa>gCa p.E259A NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 259 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTGCTCACCTTCCTCATTGAG 0.527000 13 365 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41559142 41559142 + Splice_Site SNP T T A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr8:41559142T>A ENST00000396942.1 - 22 2472 c.e22-2 ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000347528.4_Splice_Site|ANK1_ENST00000265709.8_Splice_Site P16157 ANK1_HUMAN ankyrin 1, erythrocytic axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACTGACTAACTAAAACGAGAA 0.468000 OREG0018740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 92 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26848562 26848562 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr12:26848562C>T ENST00000381340.3 - 10 1389 c.973G>A c.(973-975)Gcc>Acc p.A325T NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 325 MIR 4. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCATTTTGGGCATCTCGATAA 0.299000 18 84 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10442759 10442759 + Splice_Site SNP A A G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr17:10442759A>G ENST00000245503.5 - 13 1651 c.e13+1 CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site|MYH2_ENST00000532183.1_Splice_Site NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTATGCACCTACCTGTTCTAC 0.443000 91 235 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24564874 24564874 + Missense_Mutation SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr16:24564874C>A ENST00000319715.4 + 4 776 c.344C>A c.(343-345)aCa>aAa p.T115K RBBP6_ENST00000381039.3_Missense_Mutation_p.T115K|RBBP6_ENST00000348022.2_Missense_Mutation_p.T115K NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 115 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) GCCCAGCTTACAAAGGTATAT 0.323000 10 53 0.000978159 0.00102419 1 1 0 GRHL1 29841 broad.mit.edu 37 2 10101473 10101473 + Missense_Mutation SNP G G C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr2:10101473G>C ENST00000324907.9 + 4 713 c.577G>C c.(577-579)Gac>Cac p.D193H GRHL1_ENST00000324883.5_Silent_p.L29L|GRHL1_ENST00000405379.2_Missense_Mutation_p.D193H NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 193 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TCTCAATACTGACCAGTTCAG 0.542000 51 146 0 0 1 0 0 PITX2 5308 broad.mit.edu 37 4 111539589 111539589 + Missense_Mutation SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr4:111539589A>T ENST00000354925.2 - 7 2351 c.646T>A c.(646-648)Tct>Act p.S216T PITX2_ENST00000355080.5_Missense_Mutation_p.S170T|PITX2_ENST00000394595.3_Missense_Mutation_p.L147H|PITX2_ENST00000394598.2_Missense_Mutation_p.S216T|PITX2_ENST00000306732.3_Missense_Mutation_p.S223T NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 216 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) GACGAGATAGAGTTGGGTGGG 0.547000 55 138 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82877725 82877725 + Missense_Mutation SNP A A G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr11:82877725A>G ENST00000298281.4 + 5 2238 c.1786A>G c.(1786-1788)Aga>Gga p.R596G NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 596 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex p.R695R(1)|p.R596R(1) cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 GTCTGCCAAAAGATGGAAATC 0.348000 47 141 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111555908 111555908 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr7:111555908C>T ENST00000428084.1 - 13 1390 c.1118G>A c.(1117-1119)aGg>aAg p.R373K DOCK4_ENST00000437633.1_Missense_Mutation_p.R373K|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 373 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TGAATATTCCCTTCTGATTTG 0.368000 7 31 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58604706 58604706 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr14:58604706A>T ENST00000267485.7 - 2 1564 c.e2+1 C14orf37_ENST00000334342.5_Splice_Site NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 TCTTTCTTTTACCTTTCATTG 0.323000 6 116 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26919344 26919344 + Silent SNP T T C rs113667723 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr17:26919344T>C ENST00000321765.5 - 3 1250 c.918A>G c.(916-918)acA>acG p.T306T NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 306 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) GTGTCAGGCATGTGGACAGAA 0.453000 8 215 0 0 1 0 0 BUB1B 701 broad.mit.edu 37 15 40505655 40505655 + Silent SNP G G A rs146821149 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr15:40505655G>A ENST00000287598.6 + 20 2853 c.2658G>A c.(2656-2658)agG>agA p.R886R BUB1B_ENST00000412359.3_Silent_p.R900R NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 886 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TGAGTCCAAGGTGTCTGATTC 0.348000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 42 79 0 0 1 0 0 NEURL3 93082 broad.mit.edu 37 2 97164150 97164150 + RNA SNP T T C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr2:97164150T>C ENST00000310865.3 - 0 942 neuralized E3 ubiquitin protein ligase 3 GGCAGCGTGATAGAAGCAGAT 0.607000 36 63 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 22 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200173596 200173596 + Missense_Mutation SNP G G A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr2:200173596G>A ENST00000443023.1 - 9 2915 c.1450C>T c.(1450-1452)Cgc>Tgc p.R484C SATB2_ENST00000428695.1_Missense_Mutation_p.R425C|SATB2_ENST00000417098.1_Missense_Mutation_p.R543C|SATB2_ENST00000260926.5_Missense_Mutation_p.R543C|SATB2_ENST00000457245.1_Missense_Mutation_p.R543C Q9UPW6 SATB2_HUMAN SATB homeobox 2 543 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTCAGGAAGCGACGGATGGTA 0.577000 18 311 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17662260 17662260 + Silent SNP T T C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr6:17662260T>C ENST00000262077.2 - 10 1256 c.1257A>G c.(1255-1257)gaA>gaG p.E419E NUP153_ENST00000537253.1_Silent_p.E419E NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 419 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TTTCTCGTTGTTCTCTATTTT 0.303000 86 137 0 0 1 0 0 NCAPH2 29781 broad.mit.edu 37 22 50954874 50954874 + Splice_Site SNP A A C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr22:50954874A>C ENST00000395701.3 + 2 202 c.e2-1 NCAPH2_ENST00000420993.2_Splice_Site|NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000395698.3_Splice_Site Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) TGTTTCTTGCAGCTGGATCAG 0.537000 10 51 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40028034 40028034 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr17:40028034C>T ENST00000352035.2 - 25 2975 c.2845G>A c.(2845-2847)Gcc>Acc p.A949T ACLY_ENST00000393896.2_Missense_Mutation_p.A939T|ACLY_ENST00000537919.1_Missense_Mutation_p.A678T|ACLY_ENST00000353196.1_Missense_Mutation_p.A939T|ACLY_ENST00000590151.1_Missense_Mutation_p.A949T NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 949 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CTGTCAAAGGCTTTACTGAAC 0.502000 47 105 0 0 1 0 0 MSL1 339287 broad.mit.edu 37 17 38289885 38289885 + Missense_Mutation SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr17:38289885C>A ENST00000398532.3 + 7 1970 c.1655C>A c.(1654-1656)aCc>aAc p.T552N MSL1_ENST00000579565.1_Missense_Mutation_p.T289N|MSL1_ENST00000578648.1_Missense_Mutation_p.T536N Q68DK7 MSL1_HUMAN male-specific lethal 1 homolog (Drosophila) 552 histone H4-K16 acetylation MSL complex endometrium(1)|kidney(2)|large_intestine(2)|lung(2) 7 CCTGAGGTTACCTCATTTTTC 0.433000 4 83 0.014758 0.0150973 1 1 0 GPR158 57512 broad.mit.edu 37 10 25887796 25887796 + Missense_Mutation SNP A A C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr10:25887796A>C ENST00000376351.3 + 11 3600 c.3241A>C c.(3241-3243)Att>Ctt p.I1081L GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1081 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AGGCCAGTCCATTTTGGAAGA 0.502000 73 203 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135307659 135307659 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr7:135307659C>T ENST00000285968.6 + 31 4491 c.4465C>T c.(4465-4467)Cat>Tat p.H1489Y NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1489 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TTGTGATGGTCATGAGATTGG 0.388000 40 134 0 0 1 0 0 UXS1 80146 broad.mit.edu 37 2 106717553 106717553 + Silent SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr2:106717553C>A ENST00000283148.7 - 12 1042 c.945G>T c.(943-945)gtG>gtT p.V315V UXS1_ENST00000409032.1_Silent_p.V142V|UXS1_ENST00000540130.1_Silent_p.V253V|UXS1_ENST00000428048.2_Silent_p.V154V|UXS1_ENST00000409501.3_Silent_p.V310V NM_001253875.1|NM_025076.4 NP_001240804.1|NP_079352.2 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 310 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 TCATGAGAGCCACGAGGCCAT 0.557000 47 262 2.27781e-18 2.56614e-18 1 1 0 PPM1B 5495 broad.mit.edu 37 2 44457623 44457623 + Missense_Mutation SNP T T G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr2:44457623T>G ENST00000282412.4 + 6 1618 c.1206T>G c.(1204-1206)aaT>aaG p.N402K PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000378540.4_Intron|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000345249.4_Missense_Mutation_p.N115K NM_002706.4 NP_002697.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 402 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGAGAATTAATCATAGGGGAA 0.473000 21 67 0 0 1 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61404307 61404307 + RNA SNP G G T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr11:61404307G>T ENST00000496593.1 + 0 911 NR_002775.2 GCAAGGCCGTGGTGCTGATGG 0.552000 16 46 3.45872e-05 3.70875e-05 1 1 0 PCYOX1 51449 broad.mit.edu 37 2 70502098 70502098 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr2:70502098C>T ENST00000433351.2 + 4 530 c.502C>T c.(502-504)Cgc>Tgc p.R168C PCYOX1_ENST00000264441.5_Missense_Mutation_p.R168C|PCYOX1_ENST00000545138.1_Missense_Mutation_p.R90C|PCYOX1_ENST00000505044.2_Missense_Mutation_p.R91C NM_016297.3 NP_057381.3 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 168 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 AAGGATCTACCGCTACCAGTC 0.408000 7 221 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87966299 87966299 + Silent SNP G G C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr10:87966299G>C ENST00000327946.7 - 3 427 c.342C>G c.(340-342)ctC>ctG p.L114L NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 114 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GCTGGACAAAGAGGTGTGGGA 0.632000 Multiple Myeloma(13;0.14) 50 117 0 0 1 0 0 DNAJB12 54788 broad.mit.edu 37 10 74100574 74100574 + Silent SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr10:74100574C>T ENST00000338820.3 - 5 947 c.798G>A c.(796-798)agG>agA p.R266R DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000394903.2_Silent_p.R266R|DNAJB12_ENST00000444643.2_Silent_p.R232R NM_001002762.2 NP_001002762.2 Q9NXW2 DJB12_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 12 232 protein folding endoplasmic reticulum|integral to membrane heat shock protein binding|unfolded protein binding endometrium(1)|large_intestine(2)|skin(1) 4 TGCGGTCCTGCCTTTGCTGGT 0.642000 15 28 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114967253 114967253 + Missense_Mutation SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr1:114967253C>A ENST00000358465.2 - 10 1903 c.1820G>T c.(1819-1821)gGc>gTc p.G607V TRIM33_ENST00000450349.2_Missense_Mutation_p.G215V|TRIM33_ENST00000369543.2_Missense_Mutation_p.G607V NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 607 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATATTGAGGGCCGCTGTGCCT 0.433000 T RET papillary thyroid 61 130 9.12251e-31 1.05442e-30 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20599967 20599967 + Missense_Mutation SNP G G A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr4:20599967G>A ENST00000504154.1 + 33 3893 c.3641G>A c.(3640-3642)cGt>cAt p.R1214H SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227H NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1214 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TATCGGGGGCGTGTTCGTGCC 0.473000 82 113 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11224382 11224382 + Silent SNP G G A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr19:11224382G>A ENST00000558518.1 + 10 1717 c.1530G>A c.(1528-1530)acG>acA p.T510T LDLR_ENST00000455727.2_Silent_p.T342T|LDLR_ENST00000558013.1_Silent_p.T510T|LDLR_ENST00000535915.1_Silent_p.T469T|LDLR_ENST00000557933.1_Silent_p.T510T|LDLR_ENST00000545707.1_Silent_p.T383T NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 510 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) AGAGGAAAACGTTATTCAGGG 0.582000 19 47 0 0 1 0 0 CYTH1 9267 broad.mit.edu 37 17 76692093 76692093 + Splice_Site SNP T T A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr17:76692093T>A ENST00000589297.1 - 10 1327 c.e10-2 CYTH1_ENST00000585509.1_Splice_Site|CYTH1_ENST00000446868.3_Splice_Site|CYTH1_ENST00000591455.1_Intron|CYTH1_ENST00000361101.4_Intron|CYTH1_ENST00000589296.1_Intron Q15438 CYH1_HUMAN cytohesin 1 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 ACATACCTCCTGGAGTTTGGG 0.388000 42 84 0 0 1 0 0 AEBP2 121536 broad.mit.edu 37 12 19646732 19646732 + Splice_Site SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr12:19646732A>T ENST00000266508.9 + 4 988 c.e4-1 AEBP2_ENST00000360995.4_Splice_Site|AEBP2_ENST00000541908.1_Splice_Site|AEBP2_ENST00000398864.3_Splice_Site NM_153207.4 NP_694939.2 Q6ZN18 AEBP2_HUMAN AE binding protein 2 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) ATTTTCTTTTAGTGTGTTGTT 0.418000 8 61 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62670706 62670706 + Missense_Mutation SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr10:62670706A>T ENST00000337910.5 - 4 572 c.235T>A c.(235-237)Tct>Act p.S79T RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S79T NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 79 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) AGCCTGAGAGAAACACTCACT 0.488000 40 104 0 0 1 0 0 WDR46 9277 broad.mit.edu 37 6 33254931 33254931 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr6:33254931C>T ENST00000374617.4 - 9 1308 c.952G>A c.(952-954)Ggg>Agg p.G318R NM_001164267.1|NM_005452.5 NP_001157739.1|NP_005443.3 O15213 WDR46_HUMAN WD repeat domain 46 318 NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 20 TCGAGCCGCCCAGCTCGAGCA 0.502000 56 150 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9914789 9914789 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chrX:9914789C>T ENST00000380913.3 + 10 4753 c.4663C>T c.(4663-4665)Cgc>Tgc p.R1555C SHROOM2_ENST00000418909.2_Missense_Mutation_p.R390C NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1555 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity p.R1555C(1) breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CCTGGACCGCCGCGAGCGCAT 0.547000 8 18 0 0 1 0 0 CSTF3 1479 broad.mit.edu 37 11 33123767 33123767 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr11:33123767C>T ENST00000323959.4 - 10 921 c.782G>A c.(781-783)aGc>aAc p.S261N TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 261 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 AAGAGGGTTGCTCTTTTCCCA 0.433000 27 104 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122369710 122369710 + Missense_Mutation SNP A A T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr12:122369710A>T ENST00000288912.4 + 4 1660 c.806A>T c.(805-807)gAa>gTa p.E269V WDR66_ENST00000397454.2_Missense_Mutation_p.E269V NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 269 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) ATTCGAGAGGAAAGGCAGAGA 0.453000 45 108 0 0 1 0 0 TMEM214 54867 broad.mit.edu 37 2 27256957 27256957 + Silent SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr2:27256957C>A ENST00000238788.9 + 2 236 c.174C>A c.(172-174)acC>acA p.T58T TMEM214_ENST00000404032.3_Silent_p.T58T NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 58 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CCACAAGCACCCTTTATGAGC 0.547000 91 160 7.22319e-40 8.45874e-40 1 1 0 CTPS1 1503 broad.mit.edu 37 1 41471734 41471734 + Missense_Mutation SNP A A G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr1:41471734A>G ENST00000372621.4 + 13 1772 c.1264A>G c.(1264-1266)Aca>Gca p.T422A CTPS1_ENST00000541520.1_Missense_Mutation_p.T191A|CTPS1_ENST00000372616.1_Missense_Mutation_p.T422A NM_001905.2 NP_001896.2 P17812 PYRG1_HUMAN CTP synthase 1 422 Glutamine amidotransferase type-1. CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding endometrium(3)|lung(10) 13 L-Glutamine(DB00130) TGCCAATTCTACAGAGTTTGA 0.408000 37 117 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75054987 75054987 + Missense_Mutation SNP C C G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr7:75054987C>G ENST00000453279.2 - 9 1441 c.577G>C c.(577-579)Gaa>Caa p.E193Q POM121C_ENST00000257665.5_Missense_Mutation_p.E435Q|POM121C_ENST00000473168.1_5'UTR NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 435 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 CACAGCTCTTCTTCTCTGTTG 0.453000 11 21 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55399613 55399613 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr19:55399613C>T ENST00000355524.3 + 4 611 c.601C>T c.(601-603)Ccc>Tcc p.P201S FCAR_ENST00000359272.4_Missense_Mutation_p.P189S|FCAR_ENST00000469767.1_Missense_Mutation_p.P201S|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391725.3_Intron|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000353758.4_Missense_Mutation_p.P92S|FCAR_ENST00000482092.2_Intron NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 201 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CAACAGGAGCCCCTACCTGTG 0.582000 8 27 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17023321 17023321 + RNA SNP T T G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr1:17023321T>G ENST00000492551.1 - 0 1626 NR_026567.1 GTCAGCCCCTTGCTCTGTGGC 0.637000 4 57 0 0 1 0 0 VHL 7428 broad.mit.edu 37 3 10191488 10191488 + Nonsense_Mutation SNP C C T rs5030818 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr3:10191488C>T ENST00000256474.2 + 3 1321 c.481C>T c.(481-483)Cga>Tga p.R161* VHL_ENST00000345392.2_Nonsense_Mutation_p.R120*|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 161 Interaction with Elongin BC complex. R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I).|R -> Q (in pheochromocytoma and VHLD; type II). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.R161*(13)|p.E160fs*9(2)|p.R161del(1)|p.R161fs*13(1)|p.?fs(1)|p.L158fs*6(1)|p.E160fs*13(1)|p.R161fs*9(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) TCTGAAAGAGCGATGCCTCCA 0.502000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 18 38 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 4 88 0 0 1 0 0 WDR83 84292 broad.mit.edu 37 19 12783897 12783897 + Missense_Mutation SNP T T A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr19:12783897T>A ENST00000418543.3 + 9 999 c.650T>A c.(649-651)cTc>cAc p.L217H WDR83_ENST00000242796.4_Missense_Mutation_p.L217H NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 217 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 ACATTGCGGCTCCTGGACAAA 0.657000 42 86 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47162162 47162162 + Nonsense_Mutation SNP G G A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr3:47162162G>A ENST00000409792.3 - 3 4006 c.3964C>T c.(3964-3966)Cga>Tga p.R1322* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1322 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.R819*(2)|p.R1322*(2) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CCTTGAGTTCGATCATACACA 0.463000 """N, F, S, Mis""" clear cell renal carcinoma 57 106 0 0 1 0 0 MAEA 10296 broad.mit.edu 37 4 1305934 1305934 + Silent SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr4:1305934C>T ENST00000303400.4 + 2 300 c.237C>T c.(235-237)agC>agT p.S79S MAEA_ENST00000264750.6_Silent_p.S79S|MAEA_ENST00000510794.1_Silent_p.S78S|MAEA_ENST00000505177.2_Silent_p.S79S|MAEA_ENST00000505839.1_Silent_p.S31S|MAEA_ENST00000514708.1_Silent_p.S79S|MAEA_ENST00000452175.2_Silent_p.S68S NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 79 Extracellular and involved in cell to cell contact. cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) AGAAGCTCAGCGTCCTCAAGA 0.622000 15 28 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870416 51870416 + Missense_Mutation SNP G G A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr20:51870416G>A ENST00000371497.5 + 2 1306 c.419G>A c.(418-420)gGc>gAc p.G140D TSHZ2_ENST00000329613.6_Missense_Mutation_p.G137D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.G137D NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 140 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TACTGGTCAGGCCTGGGCCTT 0.512000 14 220 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6479378 6479378 + Missense_Mutation SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr11:6479378C>T ENST00000525074.1 - 3 674 c.280G>A c.(280-282)Gat>Aat p.D94N TRIM3_ENST00000345851.3_Missense_Mutation_p.D94N|TRIM3_ENST00000359518.3_Missense_Mutation_p.D94N|TRIM3_ENST00000537602.1_Missense_Mutation_p.D94N|TRIM3_ENST00000536344.1_5'UTR NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 94 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGCCCCATCAGGTGCCTGC 0.647000 53 112 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172547460 172547460 + Nonsense_Mutation SNP G G T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr1:172547460G>T ENST00000367723.3 + 13 1943 c.1819G>T c.(1819-1821)Gaa>Taa p.E607* SUCO_ENST00000263688.3_Nonsense_Mutation_p.E455* NM_016227.2 NP_057311.2 SUN domain containing ossification factor TAGCATGGTGGAAGAATATGA 0.368000 4 59 1 1 1 1 0 STYK1 55359 broad.mit.edu 37 12 10783738 10783738 + Silent SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr12:10783738C>T ENST00000075503.3 - 5 877 c.357G>A c.(355-357)caG>caA p.Q119Q NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 119 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CACTGCAAATCTGCTCCAGAA 0.507000 HNSCC(73;0.22) 9 131 0 0 1 0 0 RBM43 375287 broad.mit.edu 37 2 152112099 152112099 + Missense_Mutation SNP T T C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr2:152112099T>C ENST00000331426.5 - 2 313 c.162A>G c.(160-162)atA>atG p.I54M NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 54 RRM. nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) TTGTCGGATATATCACATCTT 0.338000 59 132 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38573642 38573642 + Silent SNP C C T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr19:38573642C>T ENST00000222345.6 + 3 1946 c.1437C>T c.(1435-1437)ccC>ccT p.P479P NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 479 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGGAAGTTCCCAAGGAGCAGC 0.672000 10 26 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 70 0 0 1 0 0 GRPEL1 80273 broad.mit.edu 37 4 7062876 7062876 + Nonsense_Mutation SNP G G A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr4:7062876G>A ENST00000264954.4 - 4 531 c.367C>T c.(367-369)Cag>Tag p.Q123* GRPEL1_ENST00000514056.1_5'UTR NM_025196.2 NP_079472.1 Q9HAV7 GRPE1_HUMAN GrpE-like 1, mitochondrial (E. coli) 123 protein folding|protein import into mitochondrial matrix mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 GGAACACACTGTGTTGCCTTC 0.463000 47 139 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101095127 101095127 + Silent SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr6:101095127C>A ENST00000369162.2 - 21 3797 c.3453G>T c.(3451-3453)ctG>ctT p.L1151L NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1151 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TCATGTCTTTCAGCTTATCCA 0.368000 8 72 1.12685e-05 1.22305e-05 1 1 0 COL11A2 1302 broad.mit.edu 37 6 33140387 33140387 + Missense_Mutation SNP C C A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr6:33140387C>A ENST00000341947.2 - 39 3045 c.2818G>T c.(2818-2820)Ggg>Tgg p.G940W COL11A2_ENST00000395197.1_Missense_Mutation_p.G880W|COL11A2_ENST00000374713.1_Missense_Mutation_p.G893W|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G919W|COL11A2_ENST00000374712.1_Missense_Mutation_p.G859W|COL11A2_ENST00000361917.1_Missense_Mutation_p.G833W|COL11A2_ENST00000374714.1_Missense_Mutation_p.G914W|COL11A2_ENST00000374708.4_Missense_Mutation_p.G854W NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 940 Triple-helical region. Missing (in STL3). cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCTCTCTCCCCCATAGGGCCG 0.627000 19 38 1.36565e-18 1.55824e-18 1 1 0 ITPR2 3709 broad.mit.edu 37 12 26848561 26848561 + Missense_Mutation SNP G G C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr12:26848561G>C ENST00000381340.3 - 10 1390 c.974C>G c.(973-975)gCc>gGc p.A325G NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 325 MIR 4. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TTCATTTTGGGCATCTCGATA 0.303000 18 86 0 0 1 0 0 LUZP1 7798 broad.mit.edu 37 1 23417944 23417945 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:23417944_23417945insG ENST00000302291.4 - 4 3611_3612 c.2810_2811insC c.(2809-2811)cacfs p.H937fs LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs Q86V48 LUZP1_HUMAN leucine zipper protein 1 937 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) CTATTCGAGTTGGGGGGTCTTC 0.495 14 764 --- --- --- --- UBXN11 91544 broad.mit.edu 37 1 26608843 26608844 + In_Frame_Ins INS - - GGGACA rs6667693 by1000genomes TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:26608843_26608844insGGGACA ENST00000314675.7 - 11 1228_1229 c.1149_1150insTGTCCC c.(1147-1152)ccgtcc>ccTGTCCCgtcc p.382_383insPV UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 502 cytoplasm|cytoskeleton p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 ggaccgggaccgggactggggc 0.733 9 15 --- --- --- --- KIAA1522 57648 broad.mit.edu 37 1 33233494 33233495 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:33233494_33233495insC ENST00000401073.2 + 2 412_413 c.342_343insC c.(340-345)cgccccfs p.RP114fs KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 55 S -> P (in dbSNP:rs3737994). breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCAGTGGGCGACCCCCCCACCT 0.614 7 265 --- --- --- --- MAP7D1 55700 broad.mit.edu 37 1 36643780 36643781 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:36643780_36643781insC ENST00000316156.4 + 8 2028_2029 c.1575_1576insC c.(1573-1578)caccccfs p.HP525fs MAP7D1_ENST00000373148.4_Frame_Shift_Ins_p.HP108fs|MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.HP530fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.HP562fs Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 562 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) AGAAGGAGCAGCCCCCCGCGGA 0.698 2 4 --- --- --- --- CSF3R 1441 broad.mit.edu 37 1 36935322 36935323 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:36935322_36935323insG ENST00000373103.1 - 11 1951_1952 c.1404_1405insC c.(1402-1407)ccgcgcfs p.R469fs CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 469 Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTGCTCGCGCTGGGGGGGCCCA 0.634 10 381 --- --- --- --- HIVEP3 59269 broad.mit.edu 37 1 42049248 42049249 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:42049248_42049249insG ENST00000372584.1 - 3 2234_2235 c.1220_1221insC c.(1219-1221)caafs p.Q407fs HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.Q407fs NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 407 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CGTTGGTGTTTGGGGGGCTGAC 0.594 10 309 --- --- --- --- HIVEP3 59269 broad.mit.edu 37 1 42050006 42050007 + Frame_Shift_Ins INS - - G rs138785392 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:42050006_42050007insG ENST00000372584.1 - 3 1476_1477 c.462_463insC c.(460-465)ccaggafs p.G155fs HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 155 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGAAGGTCCTCGGGGGGAATGA 0.604 9 529 --- --- --- --- ZMYND12 84217 broad.mit.edu 37 1 42898878 42898879 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:42898878_42898879insG ENST00000372565.3 - 7 1179_1180 c.910_911insC c.(910-912)aaafs p.K304fs ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 304 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATGGTTTTTTGGGGGGCTTTG 0.411 9 490 --- --- --- --- SLC2A1 6513 broad.mit.edu 37 1 43395453 43395454 + Splice_Site INS - - G rs113697235 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:43395453_43395454insG ENST00000426263.3 - 6 858 c.e6-2 SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) TCTTTAGCACTGGGGGGACCGG 0.629 9 670 --- --- --- --- RNF220 55182 broad.mit.edu 37 1 44878032 44878033 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:44878032_44878033insC ENST00000355387.2 + 2 713_714 c.263_264insC c.(262-264)tccfs p.S88fs RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs Q5VTB9 RN220_HUMAN ring finger protein 220 88 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 AATCGTGATTTCCCCCCTTCTC 0.515 11 906 --- --- --- --- FGGY 55277 broad.mit.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G rs145440779 by1000genomes TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:59812016_59812017insG ENST00000371218.4 + 4 595_596 c.411_412insG c.(409-414)gtggggfs p.VG137fs FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 137 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGAT 0.500 22 264 --- --- --- --- JAK1 3716 broad.mit.edu 37 1 65325832 65325833 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:65325832_65325833insG ENST00000342505.4 - 9 1537_1538 c.1289_1290insC c.(1288-1290)cttfs p.L430fs NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 430 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GGACGATCAACGGGGGGGCCAC 0.540 Mis ALL 10 308 --- --- --- --- RPE65 6121 broad.mit.edu 37 1 68897205 68897206 + Frame_Shift_Ins INS - - A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:68897205_68897206insA ENST00000262340.5 - 11 1244_1245 c.1191_1192insT c.(1189-1194)agacgafs p.RR397fs NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 397 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 ATAGTCTCGTCACTGCACAGAA 0.470 44 119 --- --- --- --- GBP7 388646 broad.mit.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C rs138127555 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:89613321_89613322insC ENST00000294671.2 - 8 1431_1432 c.1293_1294insG c.(1291-1296)ggacaafs p.Q432fs NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 432 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGAA 0.436 10 254 --- --- --- --- LRRC8C 84230 broad.mit.edu 37 1 90179646 90179647 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:90179646_90179647insC ENST00000370454.4 + 3 1772_1773 c.1517_1518insC c.(1516-1518)cccfs p.P506fs RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 506 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) ATGAGGGAACTCCCCCCCTGGA 0.500 10 195 --- --- --- --- EPHX4 253152 broad.mit.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:92511121_92511122insG ENST00000370383.4 + 4 606_607 c.508_509insG c.(508-510)gggfs p.G170fs NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 170 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TGGCCATGACTGGGGGGGCATG 0.386 14 399 --- --- --- --- FAM212B 55924 broad.mit.edu 37 1 112269658 112269659 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:112269658_112269659insG ENST00000357260.5 - 2 1006_1007 c.825_826insC c.(823-828)cccaagfs p.K276fs FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.K261fs|FAM212B_ENST00000534365.1_Intron NM_019099.4 NP_061972.1 Q9NTI7 CA183_HUMAN family with sequence similarity 212, member B 276 cervix(1)|endometrium(1) 2 GGGCAGCTTGTGGGGGGATTCT 0.574 8 1340 --- --- --- --- OLFML3 56944 broad.mit.edu 37 1 114523958 114523959 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:114523958_114523959insC ENST00000369551.1 + 4 1016_1017 c.728_729insC c.(727-729)accfs p.T243fs OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 263 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGGGGCTGATCCCCCCCTACG 0.559 12 237 --- --- --- --- SPAG17 200162 broad.mit.edu 37 1 118584454 118584455 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:118584454_118584455insG ENST00000336338.5 - 21 3090_3091 c.3025_3026insC c.(3025-3027)ccafs p.P1009fs NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1009 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTCTGGTTGGTGGGGGGACTCT 0.371 8 880 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145585532 145585533 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:145585532_145585533insG ENST00000393045.2 + 14 1887_1888 c.1797_1798insG c.(1795-1800)ccggggfs p.PG599fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 599 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGCCCCTGGGGGGGCCTT 0.663 11 170 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147094075 147094076 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:147094075_147094076insC ENST00000234739.3 + 9 3646_3647 c.2906_2907insC c.(2905-2907)gccfs p.A969fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 969 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) CTTTTAGGTGGCCCCCCACCTC 0.495 T """IGH@, IGL@""" B-ALL 7 338 --- --- --- --- TARS2 80222 broad.mit.edu 37 1 150477198 150477199 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:150477198_150477199insG ENST00000369064.3 + 15 1843_1844 c.1809_1810insG c.(1807-1812)tgggggfs p.WG603fs TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 603 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity p.C603C(2)|p.G604W(1) cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CAGAAAGCTGCGGGGGGAAATG 0.569 8 649 --- --- --- --- ECM1 1893 broad.mit.edu 37 1 150482150 150482151 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:150482150_150482151insC ENST00000369047.4 + 3 260_261 c.135_136insC c.(133-138)gcccccfs p.AP45fs ECM1_ENST00000346569.6_Frame_Shift_Ins_p.AP45fs|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Frame_Shift_Ins_p.AP45fs NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 45 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 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;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCTACGCAGCTCCCCCCTCCCC 0.584 11 797 --- --- --- --- ARNT 405 broad.mit.edu 37 1 150784508 150784509 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:150784508_150784509insG ENST00000358595.5 - 22 2558_2559 c.2358_2359insC c.(2356-2361)cctttcfs p.PF786fs ARNT_ENST00000505755.1_Frame_Shift_Ins_p.PF771fs|ARNT_ENST00000354396.2_Frame_Shift_Ins_p.PF784fs|ARNT_ENST00000515192.1_Frame_Shift_Ins_p.PF772fs NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 786 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TATTCTGAAAAGGGGGGAAACA 0.376 T ETV6 AML 7 299 --- --- --- --- LCE1B 353132 broad.mit.edu 37 1 152785008 152785009 + Frame_Shift_Ins INS - - C rs151038984 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:152785008_152785009insC ENST00000360090.3 + 1 562_563 c.86_87insC c.(85-87)tccfs p.S29fs NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 29 Pro-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACCCCTAGATGCCCCCCAAAGT 0.629 7 205 --- --- --- --- CRTC2 200186 broad.mit.edu 37 1 153924672 153924673 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:153924672_153924673insC ENST00000368633.1 - 10 945_946 c.818_819insG c.(817-819)gtcfs p.V273fs CRTC2_ENST00000368630.3_Intron NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 273 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGGTAGGGAGCCCCCCGTGTT 0.574 8 357 --- --- --- --- UBE2Q1 55585 broad.mit.edu 37 1 154523415 154523416 + Splice_Site INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:154523415_154523416insT ENST00000292211.4 - 12 1314_1315 c.1237_splice c.e12+1 p.R412_splice NM_017582.6 NP_060052.3 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q family member 1 412 ATP binding|protein binding|ubiquitin-protein ligase activity p.N412fs*>12(1)|p.G413fs*>11(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CAGCCTCACCGTTTTTTTCGTG 0.520 11 979 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155491185 155491186 + Frame_Shift_Ins INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:155491185_155491186insT ENST00000368346.3 - 2 764_765 c.125_126insA c.(124-126)aacfs p.N42fs ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 42 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CCTCCTTTGTGTTTTTTTCTAG 0.431 10 1609 --- --- --- --- MRPL24 79590 broad.mit.edu 37 1 156708444 156708445 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:156708444_156708445insG ENST00000368211.4 - 2 190_191 c.52_53insC c.(52-54)ttafs p.L18fs MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs NM_024540.3|NM_145729.2 NP_078816.2|NP_663781.1 Q96A35 RM24_HUMAN mitochondrial ribosomal protein L24 18 translation mitochondrion|ribosome structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(4) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATAGCGGTAATGGGGGGGCAGA 0.574 7 184 --- --- --- --- CD1C 911 broad.mit.edu 37 1 158262099 158262100 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:158262099_158262100insC ENST00000368170.3 + 3 833_834 c.554_555insC c.(553-555)tccfs p.S185fs NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 185 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) AGAAGCACTTGCCCCCGATTTC 0.450 9 2187 --- --- --- --- IGSF9 57549 broad.mit.edu 37 1 159904586 159904587 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:159904586_159904587insG ENST00000368094.1 - 7 896_897 c.699_700insC c.(697-702)ccagaafs p.E234fs IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 234 Ig-like 3. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGCTGTTCTTGGGGGGCACCA 0.569 8 387 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176762723 176762724 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:176762723_176762724insC ENST00000367662.3 + 20 6212_6213 c.5048_5049insC c.(5047-5049)accfs p.T1683fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTGTGTGTAATCCCCCCCAGTG 0.470 25 598 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203667345 203667346 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:203667345_203667346insC ENST00000357681.5 + 3 1377_1378 c.254_255insC c.(253-255)accfs p.T85fs ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 85 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CACAACGTGATCCCCCCCAAAA 0.480 11 255 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:207642043_207642044insC ENST00000367057.3 + 3 806_807 c.617_618insC c.(616-618)gccfs p.A206fs CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.T209fs*10(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGAGTGCTGTCCCCCCCACAT 0.396 12 456 --- --- --- --- PROX1 5629 broad.mit.edu 37 1 214170285 214170286 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:214170285_214170286insC ENST00000366958.4 + 2 1015_1016 c.407_408insC c.(406-408)accfs p.T136fs PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 136 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TCAAGAGACAGCCCCCCAGAGT 0.530 12 358 --- --- --- --- ACTA1 58 broad.mit.edu 37 1 229567546 229567547 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:229567546_229567547insC ENST00000366684.3 - 6 1013_1014 c.911_912insG c.(910-912)gacfs p.D304fs ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 304 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) ACATCGTGGTGCCCCCCGACAT 0.589 7 252 --- --- --- --- NUP133 55746 broad.mit.edu 37 1 229600610 229600620 + Frame_Shift_Del DEL GGACCACTTGT GGACCACTTGT - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:229600610_229600620delGGACCACTTGT ENST00000261396.3 - 18 2393_2403 c.2302_2312delACAAGTGGTCC c.(2302-2313)tfs p.TSGP768fs NUP133_ENST00000366679.1_Frame_Shift_Del_p.TSGP768fs|NUP133_ENST00000537506.1_Frame_Shift_Del_p.TSGP752fs NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 768 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) GATGCCACCAGGACCACTTGTTGCTGTGAAA 0.436 13 191 --- --- --- --- SIPA1L2 57568 broad.mit.edu 37 1 232650637 232650638 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr1:232650637_232650638insG ENST00000366630.1 - 2 806_807 c.448_449insC c.(448-450)aagfs p.K150fs SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 150 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AAGTCCTCTTTGGGGGGAATGG 0.490 12 649 --- --- --- --- ANTXR1 84168 broad.mit.edu 37 2 69409763 69409764 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:69409763_69409764insC ENST00000303714.4 + 16 1646_1647 c.1324_1325insC c.(1324-1326)cccfs p.P442fs NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 442 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TCGGCCTTCTTCCCCCCGGAAG 0.421 Familial Infantile Hemangioma 8 517 --- --- --- --- RAB11FIP5 26056 broad.mit.edu 37 2 73302654 73302655 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:73302654_73302655insG ENST00000258098.6 - 5 2196_2197 c.1956_1957insC c.(1954-1959)ccaatafs p.I653fs RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 653 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GAAGGCTATTTGGGGGGGCCCG 0.629 20 264 --- --- --- --- DCTN1 1639 broad.mit.edu 37 2 74593376 74593377 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:74593376_74593377insG ENST00000361874.3 - 23 3071_3072 c.2754_2755insC c.(2752-2757)ccgcaafs p.Q919fs DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000495643.1_5'UTR NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 919 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CCTACCTTGCTGGGGGGCCGCT 0.559 7 752 --- --- --- --- HK2 3099 broad.mit.edu 37 2 75104377 75104378 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:75104377_75104378insG ENST00000290573.2 + 8 1560_1561 c.960_961insG c.(958-963)ttggggfs p.LG320fs HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 320 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 AGCTGCTCTTTGGGGGGAAGCT 0.545 8 662 --- --- --- --- IL1R2 7850 broad.mit.edu 37 2 102638681 102638682 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:102638681_102638682insC ENST00000332549.3 + 6 950_951 c.721_722insC c.(721-723)cccfs p.P241fs IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 241 Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) TGTGATCATTTCCCCCCTCAAG 0.490 9 657 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099957 168099958 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:168099957_168099958insG ENST00000409195.1 + 9 2144_2145 c.2055_2056insG c.(2053-2058)acggggfs p.TG685fs XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 510 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGACATAACTGGGGGGGATGT 0.421 12 299 --- --- --- --- MYO3B 140469 broad.mit.edu 37 2 171240258 171240259 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:171240258_171240259insC ENST00000334231.6 + 12 1251_1252 c.1251_1252insC c.(1249-1254)aaccccfs p.NP417fs MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs Q8WXR4 MYO3B_HUMAN myosin IIIB 408 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCGCCTCCAATCCCCCCCACAT 0.465 8 270 --- --- --- --- PDE11A 50940 broad.mit.edu 37 2 178936666 178936667 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:178936666_178936667insG ENST00000286063.5 - 1 815_816 c.498_499insC c.(496-501)ccccacfs p.H167fs PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 167 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TGGGCTGTGGTGGGGGGCAGGG 0.564 Primary Pigmented Nodular Adrenocortical Disease, Familial 10 306 --- --- --- --- NEUROD1 4760 broad.mit.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:182542971_182542972insG ENST00000295108.3 - 2 1073_1074 c.616_617insC c.(616-618)cctfs p.P206fs NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 12 359 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:187521084_187521085insG ENST00000261023.3 + 17 1949_1950 c.1675_1676insG c.(1675-1677)gggfs p.G559fs ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 22 558 --- --- --- --- FAM117B 150864 broad.mit.edu 37 2 203621968 203621969 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:203621968_203621969insC ENST00000303116.6 + 6 1147_1148 c.405_406insC c.(403-408)ccccccfs p.PP135fs FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 379 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 ATCGTGCTCCACCCCCCCTTGT 0.485 12 146 --- --- --- --- ADAM23 8745 broad.mit.edu 37 2 207460860 207460861 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:207460860_207460861insC ENST00000264377.3 + 24 2661_2662 c.2333_2334insC c.(2332-2334)cccfs p.P778fs ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 778 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.K781fs*3(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGGAACCTTCACCCCCCCAAGG 0.455 10 128 --- --- --- --- UGT1A4 54657 broad.mit.edu 37 2 234627976 234627977 + Frame_Shift_Ins INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:234627976_234627977insT ENST00000373409.3 + 1 553_554 c.510_511insT c.(508-513)gtttttfs p.VF170fs UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) TTCCTGCTGTGTTTTTTTGGAG 0.455 9 624 --- --- --- --- NDUFA10 4705 broad.mit.edu 37 2 240954220 240954221 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:240954220_240954221insG ENST00000252711.2 - 5 704_705 c.604_605insC c.(604-606)cctfs p.P202fs NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 202 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AATCACCAGGTGGGGGGGCAGG 0.535 15 383 --- --- --- --- HDLBP 3069 broad.mit.edu 37 2 242195692 242195693 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr2:242195692_242195693insG ENST00000391975.1 - 7 1006_1007 c.779_780insC c.(778-780)cccfs p.P260fs HDLBP_ENST00000310931.4_Frame_Shift_Ins_p.P260fs|HDLBP_ENST00000427183.2_Frame_Shift_Ins_p.P296fs|HDLBP_ENST00000391976.2_Frame_Shift_Ins_p.P260fs NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 260 KH 2. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TCACGCTGGGTGGGGGGATGTT 0.530 8 226 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52702569 52702569 + Frame_Shift_Del DEL T T - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr3:52702569delT ENST00000356770.4 - 3 331 c.329delA c.(328-330)atfs p.N110fs PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N110fs Q86U86 PB1_HUMAN polybromo 1 110 Bromo 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.N110fs*3(3) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) AGTCAGCAAATTAACATCATC 0.328 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 21 38 --- --- --- --- PIK3CB 5291 broad.mit.edu 37 3 138413709 138413710 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr3:138413709_138413710insG ENST00000477593.1 - 13 1883_1884 c.1810_1811insC c.(1810-1812)ggafs p.G604fs PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 604 PI3K helical. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TAGGGCCTCCCGGGGGGGCAGT 0.465 8 146 --- --- --- --- COPB2 9276 broad.mit.edu 37 3 139090606 139090606 + Frame_Shift_Del DEL A A - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr3:139090606delA ENST00000333188.5 - 10 1345 c.1164delT c.(1162-1164)ttfs p.F388fs COPB2_ENST00000507777.1_Frame_Shift_Del_p.F359fs NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 388 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 GAGCAGATCCAAAGCTCTTGT 0.468 116 263 --- --- --- --- HTR3E 285242 broad.mit.edu 37 3 183823745 183823746 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr3:183823745_183823746insC ENST00000415389.2 + 7 1379_1380 c.913_914insC c.(913-915)cccfs p.P305fs HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 305 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CACCAGTGGCACCCCCCTCATC 0.540 9 580 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186370136 186370137 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr3:186370136_186370137insC ENST00000265029.3 + 7 966_967 c.865_866insC c.(865-867)cccfs p.P289fs FETUB_ENST00000539949.1_Frame_Shift_Ins_p.P141fs|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.P224fs|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.P252fs|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Ins_p.P289fs NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 289 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) GCAGAAAAACACCCCCCCAACA 0.495 16 308 --- --- --- --- UBXN7 26043 broad.mit.edu 37 3 196094916 196094917 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr3:196094916_196094917insG ENST00000296328.4 - 8 890_891 c.816_817insC c.(814-819)ccaaaafs p.PK272fs UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs|UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 272 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GCACATTTTTTGGGGGGACTGC 0.396 7 406 --- --- --- --- KIAA0226 9711 broad.mit.edu 37 3 197427914 197427915 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr3:197427914_197427915insG ENST00000273582.5 - 7 1195_1196 c.650_651insC c.(649-651)cgtfs p.R217fs KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000296343.5_Frame_Shift_Ins_p.R277fs NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 277 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) AGACTGAAACTGGGGGGGCTTG 0.554 8 158 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2661592 2661593 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr4:2661592_2661593insC ENST00000324666.5 + 8 1034_1035 c.683_684insC c.(682-684)gccfs p.A228fs FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 228 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GGTATCATGGACCCCCCCGTCA 0.525 8 647 --- --- --- --- EVC 2121 broad.mit.edu 37 4 5785361 5785362 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr4:5785361_5785362insC ENST00000382674.2 + 12 1830_1831 c.1646_1647insC c.(1645-1647)cccfs p.P549fs EVC_ENST00000264956.6_Frame_Shift_Ins_p.P549fs P57679 EVC_HUMAN Ellis van Creveld syndrome 549 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) ATGACTGGCCTCCCCCCGGAAG 0.584 12 589 --- --- --- --- ANKRD17 26057 broad.mit.edu 37 4 73956600 73956601 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr4:73956600_73956601insG ENST00000358602.4 - 29 6860_6861 c.6744_6745insC c.(6742-6747)cctaccfs p.T2249fs ANKRD17_ENST00000330838.6_Frame_Shift_Ins_p.T1998fs|ANKRD17_ENST00000509867.2_Frame_Shift_Ins_p.T2136fs NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2249 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCAAATGGTAAGGGGGCACTGA 0.460 7 935 --- --- --- --- UNC5C 8633 broad.mit.edu 37 4 96091356 96091357 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr4:96091356_96091357insG ENST00000453304.1 - 15 2926_2927 c.2578_2579insC c.(2578-2580)gacfs p.D860fs NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 860 Death. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCCTCTCGTCTGGGGGGCATCC 0.599 7 534 --- --- --- --- TLR3 7098 broad.mit.edu 37 4 186997804 186997805 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr4:186997804_186997805insG ENST00000296795.2 + 2 135_136 c.31_32insG c.(31-33)gggfs p.G11fs NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 11 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TATCTACTTTTGGGGGGGCCTT 0.446 12 280 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187558038 187558039 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr4:187558038_187558039insG ENST00000441802.2 - 5 3881_3882 c.3672_3673insC c.(3670-3675)ccaatcfs p.I1225fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1225 Cadherin 10. 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 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 ATGGTTGATTTGGGGGGACTAC 0.361 HNSCC(5;0.00058) 11 986 --- --- --- --- TRIML2 205860 broad.mit.edu 37 4 189012770 189012771 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr4:189012770_189012771insG ENST00000512729.1 - 7 1294_1295 c.920_921insC c.(919-921)cctfs p.P307fs TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 307 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GCCTTTTCAGAGGGGGGAAGAC 0.559 8 663 --- --- --- --- GCNT4 51301 broad.mit.edu 37 5 74324982 74324983 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr5:74324982_74324983insG ENST00000322348.4 - 1 1741_1742 c.880_881insC c.(880-882)taafs p.*294fs NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 294 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.H294fs*2(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) CTGAATGTTATGGGGGGGTGCT 0.366 13 211 --- --- --- --- PCSK1 5122 broad.mit.edu 37 5 95746639 95746640 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr5:95746639_95746640insC ENST00000311106.3 - 8 1170_1171 c.933_934insG c.(931-936)gggtcafs p.S312fs PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 312 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity p.R312C(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTCCCTGACGCCCCCCGTTTC 0.530 7 380 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127610310 127610311 + Frame_Shift_Ins INS - - C rs151053868 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr5:127610310_127610311insC ENST00000508053.1 - 66 8633_8634 c.7659_7660insG c.(7657-7662)ggttacfs p.Y2554fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs P35556 FBN2_HUMAN fibrillin 2 2554 EGF-like 43; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTACAGGTAAACCCCCCCAGGG 0.421 12 255 --- --- --- --- SLC25A48 153328 broad.mit.edu 37 5 135207263 135207264 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr5:135207263_135207264insG ENST00000274513.5 + 5 707_708 c.535_536insG c.(535-537)gggfs p.G179fs SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs Q6ZT89 S2548_HUMAN solute carrier family 25, member 48 179 transmembrane transport integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 GGGGCTATACCGGGGGGCCAGT 0.604 7 448 --- --- --- --- PSD2 84249 broad.mit.edu 37 5 139193287 139193288 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr5:139193287_139193288insG ENST00000274710.3 + 3 970_971 c.765_766insG c.(763-768)ccggggfs p.PG255fs NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 255 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGGGCCCAGGGGGGGATGA 0.614 8 216 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141049341 141049342 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr5:141049341_141049342insC ENST00000239440.4 - 16 2351_2352 c.2286_2287insG c.(2284-2289)ggggatfs p.D763fs ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 763 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGCTGGATCCTCCCCCCAGCGA 0.579 10 748 --- --- --- --- PCDH12 51294 broad.mit.edu 37 5 141336747 141336748 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr5:141336747_141336748insG ENST00000231484.3 - 1 1879_1880 c.669_670insC c.(667-672)ccagtcfs p.V224fs NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 224 Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCTGACTTGGGGGGGTTCC 0.480 9 339 --- --- --- --- PPP2R2B 5521 broad.mit.edu 37 5 145969651 145969652 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr5:145969651_145969652insC ENST00000394413.3 - 9 1760_1761 c.1190_1191insG c.(1189-1191)gaafs p.E397fs PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 397 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCTCCGCTTGCCCCCCACACA 0.500 7 719 --- --- --- --- GALNT10 55568 broad.mit.edu 37 5 153789314 153789315 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr5:153789314_153789315insG ENST00000297107.6 + 9 1515_1516 c.1378_1379insG c.(1378-1380)gggfs p.G460fs GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.G398fs|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.G133fs NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 460 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GGCTGCAGCTTGGGGGGAGGTG 0.535 7 185 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154181821 154181822 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr5:154181821_154181822insG ENST00000336314.4 + 11 1764_1765 c.1740_1741insG c.(1738-1743)ccggggfs p.PG580fs NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 657 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCGGCACCCAGGGGGGGACCG 0.550 13 303 --- --- --- --- GCNT2 2651 broad.mit.edu 37 6 10557409 10557410 + Frame_Shift_Ins INS - - C rs55808116 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:10557409_10557410insC ENST00000316170.3 + 1 1170_1171 c.753_754insC c.(751-756)ccccccfs p.PP251fs GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 253 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TGAAACCGCCTCCCCCCCATAA 0.485 23 446 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:13206134_13206135insG ENST00000379350.1 + 7 881_882 c.752_753insG c.(751-753)gggfs p.G251fs PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 12 340 --- --- --- --- DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:24205282_24205283insC ENST00000378454.3 - 8 1271_1272 c.970_971insG c.(970-972)agcfs p.S324fs DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 19 1515 --- --- --- --- ZKSCAN3 80317 broad.mit.edu 37 6 28334004 28334004 + Frame_Shift_Del DEL T T - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:28334004delT ENST00000377255.3 + 7 1856 c.1559delT c.(1558-1560)atfs p.I520fs ZKSCAN3_ENST00000252211.2_Frame_Shift_Del_p.I520fs|ZKSCAN3_ENST00000341464.5_Frame_Shift_Del_p.I372fs NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 520 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 TTCACCCGAATTTCATACCTT 0.433 126 202 --- --- --- --- MOG 4340 broad.mit.edu 37 6 29627216 29627217 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:29627216_29627217insC ENST00000376894.4 + 2 327_328 c.209_210insC c.(208-210)cccfs p.P70fs MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 70 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane p.F73fs*29(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 GGGTGGTACCGCCCCCCCTTCT 0.569 16 362 --- --- --- --- ATAT1 79969 broad.mit.edu 37 6 30610713 30610714 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:30610713_30610714insC ENST00000376483.4 + 10 903_904 c.893_894insC c.(892-894)tccfs p.S298fs ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000376485.4_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.S286fs|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000468713.1_Intron Q5SQI0 ATAT_HUMAN alpha tubulin acetyltransferase 1 298 tubulin N-acetyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 9 TTGCGCCTCTGCCCCCCACACC 0.658 7 605 --- --- --- --- BAG6 7917 broad.mit.edu 37 6 31608570 31608571 + Splice_Site INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:31608570_31608571insG ENST00000404765.2 - 21 3221_3222 c.2934_splice c.e21+1 p.A978_splice BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice P46379 BAG6_HUMAN BCL2-associated athanogene 6 948 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GTCCCTTACCTGGGGGGGATCA 0.535 7 296 --- --- --- --- BAG6 7917 broad.mit.edu 37 6 31608920 31608921 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:31608920_31608921insC ENST00000404765.2 - 20 3036_3037 c.2747_2748insG c.(2746-2748)gcafs p.A916fs BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs P46379 BAG6_HUMAN BCL2-associated athanogene 6 886 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CCATCTGCTGTCCCCCCAAGCA 0.515 11 496 --- --- --- --- C6orf25 80739 broad.mit.edu 37 6 31692528 31692529 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:31692528_31692529insC ENST00000375809.3 + 5 558_559 c.547_548insC c.(547-549)cccfs p.P183fs C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TTCAGCTCTGTCCCCCCCACAT 0.579 8 517 --- --- --- --- FANCE 2178 broad.mit.edu 37 6 35425714 35425715 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:35425714_35425715insC ENST00000229769.2 + 4 1107_1108 c.922_923insC c.(922-924)cccfs p.P308fs NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 308 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 ATTGGAGGATGCCCCCCCAGTT 0.540 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 19 379 --- --- --- --- BRPF3 27154 broad.mit.edu 37 6 36196737 36196738 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:36196737_36196738insC ENST00000357641.6 + 12 3591_3592 c.3338_3339insC c.(3337-3339)gccfs p.A1113fs BRPF3_ENST00000543502.1_Frame_Shift_Ins_p.A843fs|BRPF3_ENST00000339717.7_Frame_Shift_Ins_p.A843fs|BRPF3_ENST00000534400.1_Frame_Shift_Ins_p.CP1080fs|BRPF3_ENST00000534694.1_Frame_Shift_Ins_p.A779fs|BRPF3_ENST00000443324.2_Frame_Shift_Ins_p.A779fs NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1113 PWWP. histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CCCATCCCTGTCCCCCCGCTGG 0.584 8 463 --- --- --- --- TNFRSF21 27242 broad.mit.edu 37 6 47253988 47253989 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:47253988_47253989insG ENST00000296861.2 - 2 832_833 c.439_440insC c.(439-441)tacfs p.Y147fs NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 147 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) ACACACCGTATGGGGGGCACAG 0.554 7 749 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55039410 55039411 + Frame_Shift_Ins INS - - C rs76774128 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:55039410_55039411insC ENST00000370862.3 + 1 361_362 c.25_26insC c.(25-27)cccfs p.P9fs NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 9 feeding behavior integral to plasma membrane neuropeptide receptor activity p.P11fs*11(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATTGGAGGACTCCCCCCCTTGT 0.564 10 234 --- --- --- --- HTR1E 3354 broad.mit.edu 37 6 87725846 87725847 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:87725846_87725847insC ENST00000305344.4 + 2 1497_1498 c.794_795insC c.(793-795)accfs p.T265fs HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 265 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.F268fs*4(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCCATCAGGATCCCCCCCTTCG 0.510 23 740 --- --- --- --- AIM1 202 broad.mit.edu 37 6 107011654 107011655 + Frame_Shift_Del DEL TG TG - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:107011654_107011655delTG ENST00000369066.3 + 19 5417_5418 c.4930_4931delTG c.(4930-4932)cfs p.C1644fs AIM1_ENST00000535438.1_Frame_Shift_Del_p.C463fs NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1644 Ricin B-type lectin. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AGAAGACTGCTGCCTGACGATT 0.490 46 150 --- --- --- --- SCML4 256380 broad.mit.edu 37 6 108076790 108076791 + Frame_Shift_Ins INS - - G rs75302347 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:108076790_108076791insG ENST00000369021.3 - 1 52_53 c.53_54insC c.(52-54)cttfs p.L18fs SCML4_ENST00000369020.3_Intron|SCML4_ENST00000369022.2_Intron Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) TCCAGTGGAATGGGGGGGTTCT 0.480 7 259 --- --- --- --- KIAA1919 91749 broad.mit.edu 37 6 111587105 111587106 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:111587105_111587106insG ENST00000368847.4 + 4 693_694 c.340_341insG c.(340-342)gggfs p.G114fs NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 114 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) CTTGGCTATTTGGGGGGACAAA 0.416 7 185 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767595 127767596 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:127767595_127767596insC ENST00000483725.3 - 5 2204_2205 c.1868_1869insG c.(1867-1869)gcafs p.A623fs SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCACTTCCTGTCCCCCCCACAC 0.401 10 488 --- --- --- --- UST 10090 broad.mit.edu 37 6 149395141 149395142 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:149395141_149395142insC ENST00000367463.4 + 8 1213_1214 c.1110_1111insC c.(1108-1113)aaccccfs p.NP370fs UST_ENST00000466695.1_3'UTR NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 370 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) ACGTCAGCAAGCCCCCCCTGAG 0.490 7 235 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155750039 155750040 + Frame_Shift_Ins INS - - G rs79326507 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr6:155750039_155750040insG ENST00000159060.2 - 9 1135_1136 c.1033_1034insC c.(1033-1035)ggafs p.G345fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 345 FAD-binding FR-type. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AAAGTCCTCCTGGGGGGCAGAG 0.614 8 226 --- --- --- --- NUPL2 11097 broad.mit.edu 37 7 23224772 23224773 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:23224772_23224773insG ENST00000258742.5 + 2 464_465 c.205_206insG c.(205-207)gggfs p.G69fs AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 69 carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATCCACACCATGGGGGGGCAGC 0.406 10 166 --- --- --- --- FKBP9 11328 broad.mit.edu 37 7 33014803 33014804 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:33014803_33014804insC ENST00000242209.4 + 3 546_547 c.377_378insC c.(376-378)accfs p.T126fs FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 126 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) GCTGGTGTGATCCCCCCCAATT 0.446 14 316 --- --- --- --- TRIM4 89122 broad.mit.edu 37 7 99489838 99489839 + Frame_Shift_Ins INS - - A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:99489838_99489839insA ENST00000355947.2 - 7 1579_1580 c.1450_1451insT c.(1450-1452)gttfs p.V484fs TRIM4_ENST00000349062.2_Frame_Shift_Ins_p.V458fs NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 484 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) TGGACTCAACCAAAAAAATGGC 0.505 9 505 --- --- --- --- SPDYE3 441272 broad.mit.edu 37 7 99912173 99912174 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:99912173_99912174insC ENST00000332397.6 + 6 1185_1186 c.1001_1002insC c.(1000-1002)accfs p.T334fs SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 334 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GTAGATCCCAGCCCCCCGCGTA 0.569 27 870 --- --- --- --- ZCWPW1 55063 broad.mit.edu 37 7 100004397 100004398 + Frame_Shift_Ins INS - - A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:100004397_100004398insA ENST00000398027.2 - 12 1336_1337 c.1089_1090insT c.(1087-1092)ttgagafs p.LR363fs ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.LR243fs|ZCWPW1_ENST00000360951.4_Frame_Shift_Ins_p.LR364fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.LR243fs NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 363 PWWP. zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACTGTTTCTCCAAAAAACGTCA 0.480 8 442 --- --- --- --- AP1S1 1174 broad.mit.edu 37 7 100802404 100802405 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:100802404_100802405insG ENST00000337619.5 + 4 474_475 c.356_357insG c.(355-357)aggfs p.R119fs NM_001283.3 NP_001274.1 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 subunit 119 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2) 8 Lung NSC(181;0.168)|all_lung(186;0.215) GAGTTTTTGATGGGGGGGGATG 0.564 8 148 --- --- --- --- LAMB1 3912 broad.mit.edu 37 7 107572729 107572730 + Frame_Shift_Ins INS - - C rs57244800 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:107572729_107572730insC ENST00000393561.1 - 26 4537_4538 c.4353_4354insG c.(4351-4356)ggctggfs p.W1452fs LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.W1428fs P07942 LAMB1_HUMAN laminin, beta 1 1428 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCACAGCCAGGCCCCCCACACT 0.584 7 372 --- --- --- --- KEL 3792 broad.mit.edu 37 7 142639979 142639980 + Frame_Shift_Ins INS - - C rs140258059 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr7:142639979_142639980insC ENST00000355265.2 - 17 2397_2398 c.1923_1924insG c.(1921-1926)ggtagcfs p.S642fs NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 642 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCGATGGCTAGCCCCCCAACGT 0.500 14 1025 --- --- --- --- SLC18A1 6570 broad.mit.edu 37 8 20004787 20004788 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr8:20004787_20004788insG ENST00000440926.1 - 16 1915_1916 c.1445_1446insC c.(1444-1446)cgcfs p.R482fs SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 482 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) CTTCCTTTGCCGGGGGGCTCCG 0.500 7 328 --- --- --- --- DPYSL2 1808 broad.mit.edu 37 8 26513183 26513184 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr8:26513183_26513184insC ENST00000311151.5 + 14 2092_2093 c.1680_1681insC c.(1678-1683)gcccccfs p.AP560fs DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 560 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GTATCGTGGCGCCCCCCGGTGG 0.644 OREG0018659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 527 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G rs142098461 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr8:68128855_68128856insG ENST00000262215.3 - 33 5044_5045 c.4655_4656insC c.(4654-4656)cccfs p.P1552fs ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1552 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAGATGGAGGTGGGGGGGCAGT 0.421 7 194 --- --- --- --- KIAA0020 9933 broad.mit.edu 37 9 2827084 2827085 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr9:2827084_2827085insG ENST00000397885.2 - 10 1229_1230 c.1023_1024insC c.(1021-1026)ccaactfs p.T342fs NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 342 PUM-HD. endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) GATCTGAGTTTGGGGGGTGCAT 0.366 7 160 --- --- --- --- RLN2 6019 broad.mit.edu 37 9 5304560 5304561 + Frame_Shift_Ins INS - - A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr9:5304560_5304561insA ENST00000381627.3 - 1 408_409 c.20_21insT c.(19-21)tcafs p.S7fs RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs NM_134441.2 NP_604390.1 P04090 REL2_HUMAN relaxin 2 7 female pregnancy extracellular region hormone activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 11 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) CTAGCAGGTGGAAAAAAAACAG 0.535 7 315 --- --- --- --- ADAMTSL1 92949 broad.mit.edu 37 9 18829842 18829843 + Splice_Site INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr9:18829842_18829843insC ENST00000380548.4 + 23 4455_4456 c.4114_splice c.e23-1 p.DP1372_splice ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1372 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTCTCACAGATCCCCCCCAAGT 0.564 8 215 --- --- --- --- FAM219A 203259 broad.mit.edu 37 9 34401027 34401028 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr9:34401027_34401028insG ENST00000445726.1 - 6 798_799 c.492_493insC c.(490-495)ccagtcfs p.V165fs FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs NM_001184940.1|NM_001184941.1 NP_001171869.1|NP_001171870.1 Q8IW50 CI025_HUMAN family with sequence similarity 219, member A 165 TTCACGGACTTGGGGGGGATGA 0.644 7 129 --- --- --- --- PIGO 84720 broad.mit.edu 37 9 35091522 35091523 + Frame_Shift_Ins INS - - G rs144233446 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr9:35091522_35091523insG ENST00000378617.3 - 7 2755_2756 c.2361_2362insC c.(2359-2364)cccttcfs p.F788fs PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 788 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity p.T788fs*5(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCTTGAGAAGTGGGGGGGCCTG 0.604 17 299 --- --- --- --- ANKRD19P 138649 broad.mit.edu 37 9 95649123 95649124 + RNA INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr9:95649123_95649124insC ENST00000473204.1 + 0 2259 GCAATCTAGCACCCCCCAAAAG 0.540 9 366 --- --- --- --- MRPL50 54534 broad.mit.edu 37 9 104152774 104152775 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr9:104152774_104152775insG ENST00000374865.4 - 2 471_472 c.450_451insC c.(448-453)ccatttfs p.F151fs MRPL50_ENST00000539624.1_Intron NM_019051.2 NP_061924.1 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 151 mitochondrion|ribosome p.P150P(1) large_intestine(1)|lung(2)|prostate(2) 5 Acute lymphoblastic leukemia(62;0.0559) ATTTTCAAATTGGGGGGCAGAT 0.401 8 358 --- --- --- --- ABCA1 19 broad.mit.edu 37 9 107593322 107593323 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr9:107593322_107593323insC ENST00000374736.3 - 14 2169_2170 c.1775_1776insG c.(1774-1776)gttfs p.V592fs NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 592 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTAGGCGAAGCCCCCCCAGAC 0.540 7 348 --- --- --- --- PHYH 5264 broad.mit.edu 37 10 13325834 13325835 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:13325834_13325835insC ENST00000396920.3 - 7 1036_1037 c.632_633insG c.(631-633)ggtfs p.G211fs PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs|PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 228 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TTTTGTTAACTCCCCCCTAGAA 0.465 9 689 --- --- --- --- FRMD4A 55691 broad.mit.edu 37 10 13696451 13696452 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:13696451_13696452insG ENST00000357447.2 - 23 3382_3383 c.3014_3015insC c.(3013-3015)cagfs p.Q1005fs FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 1005 Ser-rich. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 GGGGGCTGCTTGGGGGGGTGGC 0.535 9 244 --- --- --- --- MLLT10 8028 broad.mit.edu 37 10 21962451 21962452 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:21962451_21962452insG ENST00000377072.3 + 11 1572_1573 c.1224_1225insG c.(1222-1227)gaggggfs p.EG408fs MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 408 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V411fs*3(1) NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GAAGCCAGGAAGGGGGGGTAAA 0.436 T """MLL, PICALM, CDK6""" AL 17 509 --- --- --- --- MYO3A 53904 broad.mit.edu 37 10 26312957 26312958 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:26312957_26312958insC ENST00000265944.5 + 9 904_905 c.738_739insC c.(736-741)ccccccfs p.PP246fs MYO3A_ENST00000543632.1_Frame_Shift_Ins_p.PP246fs NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 246 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CTAGGAATCCACCCCCAAAACT 0.386 9 357 --- --- --- --- ANKRD26 22852 broad.mit.edu 37 10 27322258 27322259 + Frame_Shift_Ins INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:27322258_27322259insT ENST00000376087.4 - 25 3867_3868 c.3702_3703insA c.(3700-3705)aaaatcfs p.I1235fs ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.I1251fs|ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.I792fs NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1234 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 GACATAGATTGTTTTTTTAGGG 0.322 7 350 --- --- --- --- ZEB1 6935 broad.mit.edu 37 10 31809832 31809833 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:31809832_31809833insG ENST00000446923.2 + 7 1912_1913 c.1521_1522insG c.(1519-1524)gaggggfs p.EG507fs ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 523 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) AAAGCTTTGAAGGGGGGGTGAA 0.371 9 257 --- --- --- --- ZNF248 57209 broad.mit.edu 37 10 38121236 38121237 + Frame_Shift_Ins INS - - C rs34731183 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:38121236_38121237insC ENST00000395867.3 - 6 1596_1597 c.1046_1047insG c.(1045-1047)gaafs p.E349fs ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 CATAAGACTTTCCCCCCATGTG 0.401 8 427 --- --- --- --- FAM21B 55747 broad.mit.edu 37 10 47909192 47909193 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:47909192_47909193insC ENST00000358474.5 + 10 762_763 c.762_763insC c.(760-765)acccccfs p.TP254fs NM_018232.1 NP_060702.1 Q5SNT6 FA21B_HUMAN family with sequence similarity 21, member B 254 retrograde transport, endosome to Golgi early endosome membrane|WASH complex endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 ACTTATTCACACCCCCCAAGCT 0.515 14 506 --- --- --- --- CDHR1 92211 broad.mit.edu 37 10 85972096 85972097 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:85972096_85972097insC ENST00000372117.3 + 15 1818_1819 c.1715_1716insC c.(1714-1716)cccfs p.P572fs CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 572 Cadherin 5. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GTCAATGACCACCCCCCTCAGT 0.510 7 606 --- --- --- --- CPN1 1369 broad.mit.edu 37 10 101816832 101816833 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:101816832_101816833insG ENST00000370418.3 - 6 1199_1200 c.948_949insC c.(946-951)ccaagafs p.R317fs NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 317 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) AACTCCTCTTCGGGGGGAAACT 0.470 10 830 --- --- --- --- PPRC1 23082 broad.mit.edu 37 10 103901076 103901077 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:103901076_103901077insC ENST00000278070.2 + 5 2850_2851 c.2811_2812insC c.(2809-2814)ctccccfs p.LP937fs PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.LP937fs NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 937 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) ATCCTTGCCTGCCCCCCCCACC 0.604 8 71 --- --- --- --- TRUB1 142940 broad.mit.edu 37 10 116730191 116730192 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr10:116730191_116730192insC ENST00000298746.3 + 5 649_650 c.588_589insC c.(586-591)gtccccfs p.VP196fs NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 196 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) TAATGCAAGTGCCCCCCCTGTA 0.317 10 219 --- --- --- --- OR51E1 143503 broad.mit.edu 37 11 4674216 4674217 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:4674216_4674217insG ENST00000396952.5 + 2 1110_1111 c.460_461insG c.(460-462)gggfs p.G154fs OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A155fs*3(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTGTGGTGCGGGGGGCTGCA 0.559 17 829 --- --- --- --- EIF4G2 1982 broad.mit.edu 37 11 10820934 10820935 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:10820934_10820935insG ENST00000526148.1 - 20 2871_2872 c.2361_2362insC c.(2359-2364)ccgcgafs p.R788fs EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 788 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.S788R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTTTCATCGCTGGGGGGGTTTA 0.406 10 149 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513669 35513670 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:35513669_35513670insC ENST00000378880.2 - 3 747_748 c.302_303insG c.(301-303)gacfs p.D101fs PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CATCCAAGGTACCCCCCCATGA 0.520 47 947 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46880747 46880748 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:46880747_46880748insC ENST00000378623.1 - 38 5746_5747 c.5504_5505insG c.(5503-5505)gctfs p.A1835fs LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1835 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CCCGGAGGAGGCCCCCCCGTGA 0.564 8 175 --- --- --- --- SLC43A3 29015 broad.mit.edu 37 11 57185234 57185235 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:57185234_57185235insG ENST00000395123.2 - 8 961_962 c.657_658insC c.(655-660)ccactafs p.L220fs SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000528098.1_5'UTR NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 220 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TAGCTGTAGTTGGGGGGCAGTG 0.564 12 311 --- --- --- --- TMX2 51075 broad.mit.edu 37 11 57505845 57505846 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:57505845_57505846insC ENST00000278422.4 + 4 396_397 c.384_385insC c.(382-387)aaccccfs p.NP128fs TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 128 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 TGACGTGCAAACCCCCCCTATA 0.421 15 435 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183884 61183885 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:61183884_61183885insG ENST00000340437.4 - 6 866_867 c.786_787insC c.(784-789)ccgtgtfs p.C263fs CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 220 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GGCAGCACACTGGGGGGCTTAT 0.594 9 613 --- --- --- --- BSCL2 26580 broad.mit.edu 37 11 62458782 62458783 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:62458782_62458783insC ENST00000433053.1 - 8 1530_1531 c.974_975insG c.(973-975)gatfs p.D325fs BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs Q96G97 BSCL2_HUMAN Berardinelli-Seip congenital lipodystrophy 2 (seipin) 261 cell death integral to endoplasmic reticulum membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 GGGGCCAGATGCCCCCCCACAC 0.559 11 177 --- --- --- --- DPP3 10072 broad.mit.edu 37 11 66272154 66272155 + Frame_Shift_Ins INS - - C rs142447712 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:66272154_66272155insC ENST00000532677.1 + 17 2408_2409 c.2007_2008insC c.(2005-2010)gcccccfs p.AP669fs DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 650 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 TCACTGATGCGCCCCCCGAGTG 0.579 7 231 --- --- --- --- PPFIA1 8500 broad.mit.edu 37 11 70194406 70194407 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:70194406_70194407insC ENST00000253925.7 + 16 2258_2259 c.2043_2044insC c.(2041-2046)atccccfs p.IP681fs PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 681 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGAGCTCCATTCCCCCCTACCC 0.554 10 630 --- --- --- --- SYTL2 54843 broad.mit.edu 37 11 85435355 85435356 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:85435355_85435356insG ENST00000359152.5 - 1 3715_3716 c.3716_3717insC c.(3715-3717)cgafs p.R1239fs SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 400 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CCCTGTCCTCTGGGGGGGTTAC 0.480 12 259 --- --- --- --- BACE1 23621 broad.mit.edu 37 11 117167622 117167623 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:117167622_117167623insG ENST00000313005.6 - 2 776_777 c.316_317insC c.(316-318)cccfs p.P106fs BACE1_ENST00000445823.2_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000428381.2_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000528053.1_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Frame_Shift_Ins_p.P106fs NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 106 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) CAGGAAGGGGTGGGGGGCAGCA 0.569 7 305 --- --- --- --- CCDC153 283152 broad.mit.edu 37 11 119061042 119061043 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:119061042_119061043insG ENST00000503566.2 - 6 598_599 c.599_600insC c.(598-600)cggfs p.R200fs CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs Q494R4 CC153_HUMAN coiled-coil domain containing 153 200 lung(3)|stomach(1) 4 TCAAAGATCCAGGGGGGGTGAG 0.569 11 286 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123900396 123900397 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:123900396_123900397insC ENST00000431524.1 + 1 100_101 c.67_68insC c.(67-69)cccfs p.P23fs NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A23T(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGCGCTGGACGCCCCCCTCTTT 0.589 7 1110 --- --- --- --- PRDM10 56980 broad.mit.edu 37 11 129827737 129827738 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:129827737_129827738insG ENST00000358825.5 - 3 368_369 c.137_138insC c.(136-138)ccafs p.P46fs PRDM10_ENST00000528746.1_Frame_Shift_Ins_p.P46fs|PRDM10_ENST00000360871.3_Frame_Shift_Ins_p.P46fs NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 46 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) CCACCTGCTGTGGGGGGCGAAC 0.545 13 640 --- --- --- --- IGSF9B 22997 broad.mit.edu 37 11 133807826 133807827 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:133807826_133807827insG ENST00000321016.8 - 4 669_670 c.439_440insC c.(439-441)gtafs p.V147fs IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 147 Ig-like 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTCGATGTACTGGGGGGGTGTT 0.574 11 160 --- --- --- --- NCAPD3 23310 broad.mit.edu 37 11 134048585 134048586 + Frame_Shift_Ins INS - - G rs138442478 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr11:134048585_134048586insG ENST00000534548.2 - 22 2789_2790 c.2725_2726insC c.(2725-2727)ggtfs p.G909fs NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 909 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding p.Q909fs*12(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) ACCTCTGACCTGGGGGGGTGGC 0.525 7 308 --- --- --- --- VWF 7450 broad.mit.edu 37 12 6153463 6153464 + Frame_Shift_Ins INS - - G rs137990643 by1000genomes TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:6153463_6153464insG ENST00000261405.5 - 18 2689_2690 c.2435_2436insC c.(2434-2436)cggfs p.R812fs NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 812 E1.|TIL 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCACCATGCCCGGGGGGCAGAG 0.594 8 302 --- --- --- --- CD4 920 broad.mit.edu 37 12 6924042 6924043 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:6924042_6924043insG ENST00000011653.4 + 5 749_750 c.491_492insG c.(490-492)cggfs p.R164fs CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 164 Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) AAAAACATACAGGGGGGGAAGA 0.564 14 425 --- --- --- --- M6PR 4074 broad.mit.edu 37 12 9095101 9095102 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:9095101_9095102insC ENST00000000412.3 - 6 1089_1090 c.621_622insG c.(619-624)ggtcctfs p.P208fs NM_002355.3 NP_002346.1 P20645 MPRD_HUMAN mannose-6-phosphate receptor (cation dependent) 208 endosome to lysosome transport|receptor-mediated endocytosis cell surface|endosome|integral to plasma membrane|lysosomal membrane mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1) 11 Hepatocellular(102;0.137) BRCA - Breast invasive adenocarcinoma(232;0.0146) TGGTATAGGAACCCCCCAACAA 0.450 8 391 --- --- --- --- PRB1 5542 broad.mit.edu 37 12 11506884 11506885 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:11506884_11506885insG ENST00000500254.2 - 3 189_190 c.152_153insC c.(151-153)cccfs p.P51fs PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 234 extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) CTGGAGGAGGTGGGGGGCCCTG 0.579 11 1057 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546135 11546137 + In_Frame_Del DEL TGC TGC - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:11546135_11546137delTGC ENST00000389362.4 - 3 910_912 c.875_877delGCA c.(874-879)aag>a p.SK292del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTCGGGACTTGCTGCCTCCTTG 0.606 7 1267 --- --- --- --- HEBP1 50865 broad.mit.edu 37 12 13142224 13142225 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:13142224_13142225insC ENST00000536942.1 - 2 353_354 c.203_204insG c.(202-204)gacfs p.D68fs HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs Q9NRV9 HEBP1_HUMAN heme binding protein 1 68 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TGTCATTGGTGCCCCCCGCATA 0.554 17 1020 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 14019043 14019044 + Frame_Shift_Ins INS - - G rs77738206 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:14019043_14019044insG ENST00000279593.3 - 2 308_309 c.99_100insC c.(97-102)ccgcatfs p.H34fs NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 34 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCCAATGCTGGGGGGGCTCT 0.589 14 203 --- --- --- --- WBP11 51729 broad.mit.edu 37 12 14940365 14940366 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:14940365_14940366insG ENST00000261167.2 - 12 1792_1793 c.1559_1560insC c.(1558-1560)cggfs p.R520fs WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 520 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding p.G521fs*28(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 GGAACAGCCCAGGGGGGGCAGG 0.550 12 246 --- --- --- --- KLHL42 57542 broad.mit.edu 37 12 27950768 27950769 + Frame_Shift_Ins INS - - G rs145908611 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:27950768_27950769insG ENST00000381271.2 + 3 1498_1499 c.1187_1188insG c.(1186-1188)gggfs p.G396fs NM_020782.1 NP_065833.1 kelch-like family member 42 ATCTACATCGTGGGGGGGTGTC 0.594 25 464 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46315840 46315841 + Frame_Shift_Ins INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:46315840_46315841insT ENST00000465950.1 - 5 4646_4647 c.3437_3438insA c.(3436-3438)aatfs p.N1146fs SCAF11_ENST00000369367.3_Frame_Shift_Ins_p.N1461fs|SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.N1461fs|SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.N1269fs|SCAF11_ENST00000550629.1_Intron Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1461 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TTCAGCCTATGTTTTTTTCAGT 0.376 8 422 --- --- --- --- AAAS 8086 broad.mit.edu 37 12 53715141 53715142 + Frame_Shift_Ins INS - - G rs138043864 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:53715141_53715142insG ENST00000209873.4 - 1 273_274 c.108_109insC c.(106-111)ccacttfs p.L37fs AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 37 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 CCCCGGAAGTCGGGGGGCGGGC 0.653 7 216 --- --- --- --- PCBP2 5094 broad.mit.edu 37 12 53856277 53856278 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:53856277_53856278insC ENST00000603815.1 + 8 867_868 c.517_518insC c.(517-519)cccfs p.P173fs PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 173 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 TCTCTCCCAGTCCCCCCCGAAG 0.500 19 251 --- --- --- --- DGKA 1606 broad.mit.edu 37 12 56347513 56347514 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:56347513_56347514insC ENST00000331886.5 + 24 2623_2624 c.2169_2170insC c.(2167-2172)ccccccfs p.PP723fs DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 723 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) TCATGGGCCCACCCCCCCGCTC 0.579 12 348 --- --- --- --- IKZF4 64375 broad.mit.edu 37 12 56429092 56429093 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:56429092_56429093insG ENST00000262032.5 + 12 2102_2103 c.1735_1736insG c.(1735-1737)gggfs p.G579fs IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|RP11-603J24.4_ENST00000551846.1_RNA Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 579 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CCACATTGTCCGGGGGGAGCAT 0.554 14 795 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56559112 56559113 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:56559112_56559113insG ENST00000394023.3 - 27 3326_3327 c.3221_3222insC c.(3220-3222)cggfs p.R1074fs SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1043 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CATGGGGTCCAGGGGGGGGAAC 0.574 19 283 --- --- --- --- NACA 4666 broad.mit.edu 37 12 57114417 57114418 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:57114417_57114418insG ENST00000454682.1 - 3 1177_1178 c.896_897insC c.(895-897)cgafs p.R299fs NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGGGAAAATCTGGGGGGGTGTT 0.490 T BCL6 NHL 8 89 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57572241 57572242 + Frame_Shift_Ins INS - - G rs139915490 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:57572241_57572242insG ENST00000243077.3 + 27 4927_4928 c.4461_4462insG c.(4459-4464)taggggfs p.*G1487fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1487 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACGCTGTACGGGGGGGAGGT 0.589 18 260 --- --- --- --- CDK4 1019 broad.mit.edu 37 12 58143030 58143031 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:58143030_58143031insG ENST00000257904.6 - 7 1118_1119 c.753_754insC c.(751-756)ccgaggfs p.R252fs CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000312990.6_3'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_5'UTR NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 252 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CGGGGCCCTCTGGGGGGAAAGG 0.624 Mis melanoma Hereditary Melanoma 7 242 --- --- --- --- MDM2 4193 broad.mit.edu 37 12 69233089 69233090 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:69233089_69233090insC ENST00000462284.1 + 11 1256_1257 c.954_955insC c.(952-957)aaccccfs p.NP318fs MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 312 Necessary for interaction with USP2.|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATGAAATGAATCCCCCCCTTCC 0.426 A """sarcoma, glioma, colorectal, other""" 16 445 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78400511 78400512 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:78400511_78400512insC ENST00000397909.2 + 8 1366_1367 c.1193_1194insC c.(1192-1194)cccfs p.P398fs NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs Q8IVL0 NAV3_HUMAN neuron navigator 3 398 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTGCTTTACGCCCCCCGCAGC 0.495 HNSCC(70;0.22) 15 254 --- --- --- --- UHRF1BP1L 23074 broad.mit.edu 37 12 100451839 100451840 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:100451839_100451840insG ENST00000279907.7 - 14 3427_3428 c.3215_3216insC c.(3214-3216)cgtfs p.R1072fs UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1072 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GTGTTCTAACTGGGGGGGTCTC 0.371 14 281 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112600859 112600860 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:112600859_112600860insG ENST00000550722.1 - 75 13063_13064 c.12668_12669insC c.(12667-12669)cgafs p.R4223fs HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CTGTGCCATCTGGGGGGGCGAT 0.629 14 319 --- --- --- --- MSI1 4440 broad.mit.edu 37 12 120800902 120800903 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr12:120800902_120800903insC ENST00000257552.2 - 6 433_434 c.345_346insG c.(343-348)ggtgtcfs p.V116fs NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 116 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCACCGACAGCCCCCCCACAA 0.564 22 362 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88330396 88330397 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr13:88330396_88330397insC ENST00000325089.6 + 2 2972_2973 c.2753_2754insC c.(2752-2754)accfs p.T918fs SLITRK5_ENST00000400028.3_Frame_Shift_Ins_p.T677fs NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 918 integral to membrane p.S918I(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTGCTCTACAGCCCCCCGAGTG 0.545 7 134 --- --- --- --- OR4N5 390437 broad.mit.edu 37 14 20612063 20612064 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr14:20612063_20612064insC ENST00000333629.1 + 1 169_170 c.169_170insC c.(169-171)cccfs p.P57fs NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGGGCTCACAGCCCCCCTCTAT 0.460 10 1261 --- --- --- --- ARHGEF40 55701 broad.mit.edu 37 14 21546603 21546604 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr14:21546603_21546604insG ENST00000298694.4 + 10 2329_2330 c.2202_2203insG c.(2200-2205)gaggggfs p.EG734fs ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 734 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 TGCAGAGGGATGGGGGGGCCAT 0.629 11 242 --- --- --- --- KCNH5 27133 broad.mit.edu 37 14 63174302 63174303 + Frame_Shift_Ins INS - - G rs35940222 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr14:63174302_63174303insG ENST00000322893.7 - 11 3158_3159 c.2890_2891insC c.(2890-2892)gatfs p.D964fs KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 964 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACATGGTATCTGGGGGGGTACT 0.391 17 368 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72165808 72165809 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr14:72165808_72165809insG ENST00000555818.1 + 11 3833_3834 c.3485_3486insG c.(3484-3486)gggfs p.G1162fs SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1162 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACTGGTTCTGTGGGGGGCACTT 0.495 7 393 --- --- --- --- SERPINA1 5265 broad.mit.edu 37 14 94844884 94844885 + Frame_Shift_Ins INS - - G rs143329723 by1000genomes TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr14:94844884_94844885insG ENST00000448921.1 - 7 1730_1731 c.1158_1159insC c.(1156-1161)ccaggtfs p.G387fs SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 387 RCL. E -> K (in Christchurch). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) AACTTGACCTCGGGGGGGATAG 0.490 8 169 --- --- --- --- IGHG3 3502 broad.mit.edu 37 14 106236280 106236281 + RNA INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr14:106236280_106236281insG ENST00000390551.2 - 0 522_523 CCTTGGGTTTTGGGGGGAAGAG 0.594 10 275 --- --- --- --- OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr15:22369023_22369024insG ENST00000332663.2 + 1 546_547 c.448_449insG c.(448-450)gggfs p.G150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R150M(2)|p.R150W(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTTC 0.500 23 878 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25456924 25456925 + RNA INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr15:25456924_25456925insG ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 ATGTGTGGGCAGGGGGGGTGCC 0.554 7 113 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 63918305 63918306 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr15:63918305_63918306insG ENST00000443617.2 - 71 13240_13241 c.13153_13154insC c.(13153-13155)gtafs p.V4385fs NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4385 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CGCCCCATACTGGGGGGGCACT 0.559 8 122 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64973566 64973567 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr15:64973566_64973567insC ENST00000326648.3 + 8 4349_4350 c.4221_4222insC c.(4219-4224)ccccccfs p.PP1407fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1407 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CACTCTACCCACCCCCCAGGAG 0.470 OREG0023182 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 731 --- --- --- --- MYO9A 4649 broad.mit.edu 37 15 72270549 72270550 + Frame_Shift_Ins INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr15:72270549_72270550insT ENST00000356056.5 - 12 2278_2279 c.1806_1807insA c.(1804-1809)aacaacfs p.NN602fs MYO9A_ENST00000564571.1_Frame_Shift_Ins_p.NN602fs|MYO9A_ENST00000444904.1_Frame_Shift_Ins_p.NN583fs|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_Frame_Shift_Ins_p.NN197fs|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Frame_Shift_Ins_p.NN602fs NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 602 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AGTCCTGTTGGTTTTTTGCTAA 0.332 8 449 --- --- --- --- CHSY1 22856 broad.mit.edu 37 15 101775436 101775437 + Frame_Shift_Ins INS - - C rs74545602 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr15:101775436_101775437insC ENST00000254190.3 - 2 1141_1142 c.666_667insG c.(664-669)ggctggfs p.W223fs NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 223 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATCACGCCAGGCCCCCCCATGC 0.614 7 157 --- --- --- --- ABCC1 4363 broad.mit.edu 37 16 16142119 16142120 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:16142119_16142120insC ENST00000399408.2 + 10 1514_1515 c.1339_1340insC c.(1339-1341)cccfs p.P447fs ABCC1_ENST00000399410.3_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.P447fs P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 447 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GATCTGGTCAGCCCCCCTGCAA 0.545 9 360 --- --- --- --- ACSM5 54988 broad.mit.edu 37 16 20429493 20429494 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:20429493_20429494insG ENST00000331849.4 + 3 464_465 c.317_318insG c.(316-318)cggfs p.R106fs ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.R106fs NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 106 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding p.L106L(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GCCAATGTGCTGGGGGGTGCAT 0.619 7 229 --- --- --- --- RRN3P1 730092 broad.mit.edu 37 16 21814059 21814060 + RNA INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:21814059_21814060insG ENST00000546471.1 - 0 1607 CCTATAACAAAGGGGGGGGAAA 0.381 7 122 --- --- --- --- POLR3E 55718 broad.mit.edu 37 16 22339833 22339834 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:22339833_22339834insC ENST00000299853.5 + 19 2036_2037 c.1869_1870insC c.(1867-1872)ttccccfs p.FP623fs POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 623 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) TTGGTCAGTTTCCCCCCCAGAC 0.574 7 193 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24802365 24802366 + Frame_Shift_Ins INS - - G rs139212478 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:24802365_24802366insG ENST00000395799.3 + 6 2531_2532 c.2402_2403insG c.(2401-2403)cggfs p.R801fs TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.R801fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 801 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCAAACTGCCAGGGGGGGTGGG 0.510 8 85 --- --- --- --- ZNF646 9726 broad.mit.edu 37 16 31089750 31089751 + Frame_Shift_Ins INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:31089750_31089751insT ENST00000394979.2 + 1 2528_2529 c.2105_2106insT c.(2104-2106)agafs p.R702fs ZNF646_ENST00000300850.5_Frame_Shift_Ins_p.R702fs O15015 ZN646_HUMAN zinc finger protein 646 702 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CTAGAAGACAATGAAGGCCTGG 0.619 8 36 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31422475 31422476 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:31422475_31422476insC ENST00000389202.2 + 13 1484_1485 c.1435_1436insC c.(1435-1437)cccfs p.P479fs NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 479 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CCTCATTGGGGCCCCCCATTAC 0.649 9 694 --- --- --- --- NKD1 85407 broad.mit.edu 37 16 50667134 50667135 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:50667134_50667135insC ENST00000268459.3 + 10 1079_1080 c.855_856insC c.(853-858)ctccccfs p.LP285fs NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 285 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) AGTCAGAACTGCCCCCCCGCAC 0.599 9 125 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57485112 57485113 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:57485112_57485113insC ENST00000262507.6 + 2 303_304 c.234_235insC c.(232-237)tcccccfs p.SP78fs COQ9_ENST00000567933.1_Frame_Shift_Ins_p.SP78fs|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_Frame_Shift_Ins_p.SP78fs NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 78 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CTTCTCATTCACCCCCCAGGTA 0.495 7 228 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74423894 74423895 + Splice_Site INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:74423894_74423895insC ENST00000429990.1 + 6 704_705 c.606_splice c.e6-1 p.T203_splice nuclear pore complex interacting protein family, member B15 CTTTTTCAGATCCCCCCTTCTG 0.455 9 951 --- --- --- --- CFDP1 10428 broad.mit.edu 37 16 75446448 75446449 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:75446448_75446449insG ENST00000283882.3 - 3 518_519 c.386_387insC c.(385-387)cagfs p.Q129fs CFDP1_ENST00000564286.1_5'UTR NM_006324.2 NP_006315.1 Q9UEE9 CFDP1_HUMAN craniofacial development protein 1 129 Glu-rich. multicellular organismal development endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 CTTGTGTACTTGGGGGCACTTT 0.455 11 1515 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690386 75690388 + In_Frame_Del DEL TCC TCC - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:75690386_75690388delTCC ENST00000300086.4 + 3 1174_1176 c.1077_1079delTCC c.(1075-1080)tac>ta p.YP359del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 359 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 CTGATGGATATCCCATTTGGTCC 0.453 10 529 --- --- --- --- TLDC1 57707 broad.mit.edu 37 16 84514302 84514303 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr16:84514302_84514303insC ENST00000343629.6 - 7 1271_1272 c.1089_1090insG c.(1087-1092)ggagcafs p.A364fs TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 TAATTGTGCTGCCCCCCCATAC 0.550 10 122 --- --- --- --- PRPF8 10594 broad.mit.edu 37 17 1565283 1565284 + Frame_Shift_Ins INS - - G rs35169383 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:1565283_1565284insG ENST00000572621.1 - 24 4203_4204 c.3938_3939insC c.(3937-3939)cgtfs p.R1313fs PRPF8_ENST00000304992.6_Frame_Shift_Ins_p.R1313fs Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1313 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) AGAACACAACCGGGGGGAACCG 0.525 7 299 --- --- --- --- CAMTA2 23125 broad.mit.edu 37 17 4875737 4875738 + Frame_Shift_Ins INS - - G rs145218609 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:4875737_4875738insG ENST00000361571.5 - 15 3005_3006 c.2594_2595insC c.(2593-2595)cgcfs p.R865fs CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.R889fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.R868fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.R871fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.R866fs NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 866 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GCAGAGGTGCAGGGGGGGGACT 0.614 8 71 --- --- --- --- CAMTA2 23125 broad.mit.edu 37 17 4884523 4884524 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:4884523_4884524insC ENST00000361571.5 - 7 1104_1105 c.693_694insG c.(691-696)ggttggfs p.W232fs CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 233 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AACTTACCAAGCCCCCCACTGC 0.550 OREG0024111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 594 --- --- --- --- WSCD1 23302 broad.mit.edu 37 17 6012978 6012979 + Frame_Shift_Ins INS - - C rs41314099 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:6012978_6012979insC ENST00000574946.1 + 6 1291_1292 c.901_902insC c.(901-903)cccfs p.P301fs WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.P185fs|WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.P301fs Q658N2 WSCD1_HUMAN WSC domain containing 1 301 WSC 2. 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 TGCTTACCCTACCCCCCGGTTC 0.564 7 1259 --- --- --- --- ALOX12 239 broad.mit.edu 37 17 6903739 6903740 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:6903739_6903740insC ENST00000251535.6 + 7 945_946 c.892_893insC c.(892-894)cccfs p.P298fs AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 298 Lipoxygenase. A -> T. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 ATACCTGGCTGCCCCCCTCGTT 0.554 7 982 --- --- --- --- PLSCR3 57048 broad.mit.edu 37 17 7294058 7294059 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:7294058_7294059insC ENST00000535512.1 - 10 1742_1743 c.725_726insG c.(724-726)gctfs p.A242fs PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs Q9NRY6 PLS3_HUMAN phospholipid scramblase 3 242 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding endometrium(1)|kidney(2)|urinary_tract(1) 4 Prostate(122;0.173) CTCGGACCAGGCCCCCCCACTG 0.614 16 411 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579470 7579471 + Frame_Shift_Ins INS - - G rs56275308 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:7579470_7579471insG ENST00000420246.2 - 4 348_349 c.216_217insC c.(214-219)cctggcfs p.G73fs TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 73 Interaction with HRMT1L2.|Interaction with WWOX. V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGGGGCCACGGGGGGAGCAG 0.604 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 623 --- --- --- --- WRAP53 55135 broad.mit.edu 37 17 7606714 7606715 + Frame_Shift_Ins INS - - G rs146634933 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:7606714_7606715insG ENST00000316024.5 + 10 3905_3906 c.1557_1558insG c.(1555-1560)tgggggfs p.WG519fs WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.WG486fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.WG519fs Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 519 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 TCTGGTGGTGTGGGGGGGCGCC 0.599 11 104 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12655969 12655970 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:12655969_12655970insC ENST00000425538.1 + 10 1564_1565 c.1364_1365insC c.(1363-1365)accfs p.T455fs MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.T455fs|MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.T359fs NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 455 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ACCAGCTCCAGCCCCCCGATCT 0.614 7 230 --- --- --- --- SLC47A1 55244 broad.mit.edu 37 17 19459097 19459098 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:19459097_19459098insC ENST00000571335.1 + 7 563_564 c.143_144insC c.(142-144)gccfs p.A48fs SLC47A1_ENST00000457293.1_Intron|SLC47A1_ENST00000395585.1_Intron|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Intron|SLC47A1_ENST00000270570.4_Intron|SLC47A1_ENST00000575023.1_Intron Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 0 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) AATGTGTGTGTCCCCCCCACAG 0.599 8 93 --- --- --- --- FAM222B 55731 broad.mit.edu 37 17 27086257 27086258 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:27086257_27086258insG ENST00000341217.5 - 3 934_935 c.719_720insC c.(718-720)caafs p.Q240fs FAM222B_ENST00000581407.1_Frame_Shift_Ins_p.Q240fs|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Frame_Shift_Ins_p.Q240fs NM_018182.2 NP_060652.2 Q8WU58 CQ063_HUMAN family with sequence similarity 222, member B 240 CGGTCACATTCGGGGGGGCATC 0.619 10 62 --- --- --- --- RAB11FIP4 84440 broad.mit.edu 37 17 29758897 29758898 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:29758897_29758898insG ENST00000325874.8 + 2 455_456 c.226_227insG c.(226-228)gggfs p.G76fs NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 76 EF-hand. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding p.?(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GGACTTTTGCCGGGGGGTGTTC 0.579 7 300 --- --- --- --- ASIC2 40 broad.mit.edu 37 17 31439004 31439005 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:31439004_31439005insC ENST00000225823.2 - 2 1661_1662 c.789_790insG c.(787-792)ggcaggfs p.R264fs RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 213 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCGTTGCCTGTCCCCCCCTTGA 0.550 8 244 --- --- --- --- HNF1B 6928 broad.mit.edu 37 17 36059173 36059174 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:36059173_36059174insG ENST00000225893.4 - 8 1922_1923 c.1561_1562insC c.(1561-1563)gtafs p.V521fs HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000560016.1_Intron NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 521 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) GTGGGAATACTGGGGGGGTTCC 0.515 8 213 --- --- --- --- PCGF2 7703 broad.mit.edu 37 17 36896586 36896587 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:36896586_36896587insC ENST00000580830.1 - 4 770_771 c.69_70insG c.(67-72)ggacttfs p.L24fs PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs P35227 PCGF2_HUMAN polycomb group ring finger 2 24 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) TCGATGAAGTACCCCCCGCAGA 0.629 7 388 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37687471 37687472 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:37687471_37687472insG ENST00000447079.4 + 14 4408_4409 c.4375_4376insG c.(4375-4377)gggfs p.G1459fs CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G1450fs NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1459 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AGGCCTTCACTGGGGGGGCCCA 0.559 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 8 154 --- --- --- --- CNTNAP1 8506 broad.mit.edu 37 17 40843872 40843873 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:40843872_40843873insC ENST00000264638.4 + 16 2610_2611 c.2393_2394insC c.(2392-2394)tccfs p.S798fs CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 798 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCACTACGCTTCCCCCCAATCC 0.564 11 1274 --- --- --- --- OSBPL7 114881 broad.mit.edu 37 17 45886342 45886343 + Frame_Shift_Ins INS - - G rs143462261 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:45886342_45886343insG ENST00000007414.3 - 21 2375_2376 c.2184_2185insC c.(2182-2187)ccaccafs p.P729fs OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 729 lipid transport lipid binding p.D729fs*3(1) autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 CGCTCATGGTCGGGGGGCATTG 0.619 14 425 --- --- --- --- MARCH10 162333 broad.mit.edu 37 17 60814265 60814266 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:60814265_60814266insC ENST00000544856.2 - 7 1338_1339 c.960_961insG c.(958-963)ggcatcfs p.I321fs MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 322 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GGGGTCGATGTCCCCCCAAATC 0.460 9 1097 --- --- --- --- ACE 1636 broad.mit.edu 37 17 61559936 61559937 + Frame_Shift_Ins INS - - G rs145172277 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:61559936_61559937insG ENST00000290866.4 + 8 1252_1253 c.1228_1229insG c.(1228-1230)gggfs p.G410fs ACE_ENST00000428043.1_Frame_Shift_Ins_p.G410fs|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Frame_Shift_Ins_p.G410fs NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 410 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CTCCCTGCGTCGGGGGGCCAAC 0.609 8 154 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67083603 67083604 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr17:67083603_67083604insG ENST00000284425.2 - 29 3883_3884 c.3709_3710insC c.(3709-3711)aagfs p.K1237fs ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1237 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATCTCTACTTTGGGGGGAAATT 0.376 11 1076 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:9064309_9064310insG ENST00000397910.4 - 3 23339_23340 c.23136_23137insC c.(23134-23139)ccctccfs p.S7713fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7715 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAGGGGAGAGGGGGGGATAT 0.530 9 410 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9072450 9072451 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:9072450_9072451insG ENST00000397910.4 - 3 15198_15199 c.14995_14996insC c.(14995-14997)ggcfs p.G4999fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5001 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 GATCCCTGCCTGGGGGGTTGTA 0.465 9 416 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10291083 10291084 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:10291083_10291084insG ENST00000340748.4 - 4 622_623 c.387_388insC c.(385-390)ccaaccfs p.T130fs DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 130 Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GAAAGGGGTTTGGGGGGGCTGT 0.495 17 215 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12155624 12155625 + Frame_Shift_Ins INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:12155624_12155625insT ENST00000602107.1 - 5 731_732 c.732_733insA c.(730-735)aacctafs p.NL244fs CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CATTCATAGGGTTTTTTTGCAG 0.396 11 580 --- --- --- --- NOTCH3 4854 broad.mit.edu 37 19 15276860 15276861 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:15276860_15276861insC ENST00000263388.2 - 30 5479_5480 c.5404_5405insG c.(5404-5406)tctfs p.S1802fs NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1802 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TGGCTCCAGAGCCCCCCCACAG 0.569 8 240 --- --- --- --- CPAMD8 27151 broad.mit.edu 37 19 17039883 17039884 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:17039883_17039884insC ENST00000443236.1 - 24 3184_3185 c.3153_3154insG c.(3151-3156)ggatcafs p.S1052fs NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1005 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.H1052fs*30(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTGTTCTGATGCCCCCCCAGGA 0.584 7 99 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769141 31769142 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:31769141_31769142insC ENST00000240587.4 - 2 1884_1885 c.1557_1558insG c.(1555-1560)ggttgafs p.*520fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 520 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGGATATCAAGCCCCCCCTTGG 0.500 20 532 --- --- --- --- FBL 2091 broad.mit.edu 37 19 40325192 40325193 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:40325192_40325193insG ENST00000221801.3 - 9 1064_1065 c.951_952insC c.(949-954)ccaggtfs p.G318fs FBL_ENST00000593503.1_5'UTR NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 318 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) TTCTTCACCTTGGGGGGTGGCC 0.505 9 497 --- --- --- --- AXL 558 broad.mit.edu 37 19 41743932 41743933 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:41743932_41743933insC ENST00000301178.4 + 7 1057_1058 c.867_868insC c.(865-870)gtccccfs p.VP289fs AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs|AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 289 Fibronectin type-III 1. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 AAGCATCCGTGCCCCCCCATCA 0.649 11 396 --- --- --- --- MEGF8 1954 broad.mit.edu 37 19 42838297 42838298 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:42838297_42838298insG ENST00000334370.4 + 3 1125_1126 c.490_491insG c.(490-492)gggfs p.G164fs MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.G164fs NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 164 EGF-like 1. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CGAGCCGGGCTGGGGGGGTCCT 0.703 7 169 --- --- --- --- MARK4 57787 broad.mit.edu 37 19 45805663 45805664 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:45805663_45805664insC ENST00000300843.4 + 18 2331_2332 c.2034_2035insC c.(2032-2037)ccccccfs p.PP678fs MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 0 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AACGGAAACCGCCCCCCGGCTG 0.639 9 444 --- --- --- --- HRC 3270 broad.mit.edu 37 19 49657097 49657098 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:49657097_49657098insG ENST00000252825.4 - 1 1583_1584 c.1397_1398insC c.(1396-1398)cggfs p.R466fs HRC_ENST00000595625.1_Frame_Shift_Ins_p.R466fs NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 466 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CTGTGTGTCCTGGGGGGTGATG 0.550 10 554 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243063 50243064 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:50243063_50243064insG ENST00000246801.3 - 11 1830_1831 c.1748_1749insC c.(1747-1749)caafs p.Q583fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 583 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCCTGTTTTGGGGGGGTTCC 0.545 14 418 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243087 50243088 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:50243087_50243088insC ENST00000246801.3 - 11 1806_1807 c.1724_1725insG c.(1723-1725)gggfs p.G575fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 575 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CACTGCTGCCTCCCCCCATTGT 0.554 7 544 --- --- --- --- ZNF600 162966 broad.mit.edu 37 19 53270877 53270877 + Frame_Shift_Del DEL A A - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:53270877delA ENST00000338230.3 - 3 399 c.132delT c.(130-132)atfs p.I44fs NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 44 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) ACTGAAACTCAATATCATGAA 0.378 249 564 --- --- --- --- KIR2DL3 3804 broad.mit.edu 37 19 55263920 55263921 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr19:55263920_55263921insC ENST00000342376.3 + 8 1006_1007 c.975_976insC c.(973-978)acccccfs p.TP325fs CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron NM_015868.2 NP_056952.2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GGCCCAAGACACCCCCAACAGA 0.505 8 1169 --- --- --- --- NRSN2 80023 broad.mit.edu 37 20 333922 333923 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:333922_333923insC ENST00000382291.3 + 4 498_499 c.258_259insC c.(256-261)gtccccfs p.VP86fs NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 86 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) GCTATGCAGTGCCCCCCAAGCT 0.644 13 406 --- --- --- --- FASTKD5 60493 broad.mit.edu 37 20 3128000 3128001 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:3128000_3128001insC ENST00000380266.3 - 2 2037_2038 c.1716_1717insG c.(1714-1719)ggcccafs p.GP572fs UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 572 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 ACGTACTGGGGCCCCCCCAGCA 0.436 8 165 --- --- --- --- SMOX 54498 broad.mit.edu 37 20 4163027 4163028 + Frame_Shift_Ins INS - - G rs145014650 by1000genomes TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:4163027_4163028insG ENST00000305958.4 + 5 1126_1127 c.901_902insG c.(901-903)gggfs p.G301fs SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 301 R -> P (in dbSNP:rs6084654). polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity p.R301W(1) breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) AGAGGAGCCCCGGGGGGGCAGG 0.673 7 119 --- --- --- --- CST4 1472 broad.mit.edu 37 20 23667825 23667826 + Frame_Shift_Ins INS - - C rs140501583 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:23667825_23667826insC ENST00000217423.3 - 2 311_312 c.241_242insG c.(241-243)gaafs p.E81fs NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 81 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GAAGTAATTCACCCCCCCAAAG 0.554 19 438 --- --- --- --- TM9SF4 9777 broad.mit.edu 37 20 30737490 30737491 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:30737490_30737491insC ENST00000217315.5 + 10 1297_1298 c.957_958insC c.(955-960)agccccfs p.SP319fs TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 336 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACGTCTTCAGGCCCCCCCAGTA 0.604 8 128 --- --- --- --- DNMT3B 1789 broad.mit.edu 37 20 31384650 31384651 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:31384650_31384651insG ENST00000328111.2 + 13 1673_1674 c.1352_1353insG c.(1351-1353)gggfs p.G451fs DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 451 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTCTCTTTGAGGGGGGGCTCT 0.559 18 262 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37146232 37146233 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:37146232_37146233insC ENST00000262879.6 + 8 1419_1420 c.1135_1136insC c.(1135-1137)cccfs p.P379fs RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 379 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.H382fs*2(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAGTACCACCCCCCCACAT 0.446 9 195 --- --- --- --- LPIN3 64900 broad.mit.edu 37 20 39977798 39977799 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:39977798_39977799insC ENST00000373257.3 + 5 715_716 c.624_625insC c.(622-627)tgccccfs p.CP208fs NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 208 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) ATGGCGAGTGGCCCCCCCAGGC 0.540 8 192 --- --- --- --- SLPI 6590 broad.mit.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:43881730_43881731insG ENST00000338380.2 - 3 326_327 c.306_307insC c.(304-309)ccatttfs p.F103fs NM_003064.2 NP_003055.1 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 103 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 12 388 --- --- --- --- EYA2 2139 broad.mit.edu 37 20 45771755 45771757 + In_Frame_Del DEL GCA GCA - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:45771755_45771757delGCA ENST00000327619.5 + 10 1320_1322 c.946_948delGCA c.(946-948)del p.A316del EYA2_ENST00000317304.6_Intron|EYA2_ENST00000357410.3_In_Frame_Del_p.A316del NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 316 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CTTCAACCTTGCAGATACACATC 0.468 24 157 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 42 929 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989890 47989891 + Frame_Shift_Ins INS - - G rs151175979 by1000genomes TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:47989890_47989891insG ENST00000371741.4 - 2 2372_2373 c.2206_2207insC c.(2206-2208)gtcfs p.V736fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 736 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTCAGGAGACCGGGGGGGTGTC 0.559 12 259 --- --- --- --- SALL4 57167 broad.mit.edu 37 20 50400982 50400983 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:50400982_50400983insC ENST00000217086.4 - 4 3094_3095 c.2983_2984insG c.(2983-2985)tccfs p.S995fs SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 995 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGGGTAGGAACCCCCCCACTC 0.559 8 119 --- --- --- --- PMEPA1 56937 broad.mit.edu 37 20 56227348 56227349 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:56227348_56227349insG ENST00000341744.3 - 4 943_944 c.624_625insC c.(622-627)ccgcagfs p.Q209fs PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 209 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GAGTTACTGCTGGGGGGGCAGG 0.683 13 150 --- --- --- --- OSBPL2 9885 broad.mit.edu 37 20 60854257 60854258 + Frame_Shift_Ins INS - - C rs79735057 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr20:60854257_60854258insC ENST00000313733.3 + 7 738_739 c.536_537insC c.(535-537)cccfs p.P179fs OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 179 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GTCAGTCACCACCCCCCCATCA 0.465 11 190 --- --- --- --- HUNK 30811 broad.mit.edu 37 21 33296950 33296951 + Frame_Shift_Ins INS - - G rs55847614 byFrequency TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr21:33296950_33296951insG ENST00000270112.2 + 2 792_793 c.432_433insG c.(430-435)ccggggfs p.PG144fs NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 144 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 AGCTGTGCCCTGGGGGCAACCT 0.535 7 754 --- --- --- --- DSCAM 1826 broad.mit.edu 37 21 41514614 41514615 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr21:41514614_41514615insG ENST00000400454.1 - 18 3753_3754 c.3276_3277insC c.(3274-3279)ccaaaafs p.PK1092fs NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1092 Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E1093K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGACATTTTCGGGGGGGTAAC 0.406 15 673 --- --- --- --- PDE9A 5152 broad.mit.edu 37 21 44171249 44171250 + Frame_Shift_Ins INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr21:44171249_44171250insT ENST00000291539.6 + 9 737_738 c.677_678insT c.(676-678)attfs p.I226fs PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 226 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 TGTAAGTACAGTTTTTTGGATA 0.520 8 873 --- --- --- --- MCM3AP 8888 broad.mit.edu 37 21 47666704 47666705 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr21:47666704_47666705insG ENST00000397708.1 - 22 4640_4641 c.4386_4387insC c.(4384-4389)ccaaatfs p.N1463fs MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1463 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CTCTTCATTTTGGGGGGAAGCA 0.609 8 613 --- --- --- --- CECR2 27443 broad.mit.edu 37 22 18022285 18022286 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr22:18022285_18022286insC ENST00000262608.8 + 15 2390_2391 c.2390_2391insC c.(2389-2391)gccfs p.A797fs CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 838 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGACCACCTGTCCCCCCCAACC 0.609 12 247 --- --- --- --- PI4KA 5297 broad.mit.edu 37 22 21119387 21119388 + Splice_Site INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr22:21119387_21119388insG ENST00000255882.6 - 21 2660_2661 c.e21+1 PI4KA_ENST00000466162.1_Splice_Site|PI4KA_ENST00000572273.1_Splice_Site NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TGAATCCTTACGGGGGTGACCG 0.490 8 564 --- --- --- --- SERPIND1 3053 broad.mit.edu 37 22 21138419 21138420 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr22:21138419_21138420insG ENST00000215727.5 + 3 1332_1333 c.1049_1050insG c.(1048-1050)gggfs p.G350fs PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 350 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CTGGAATACGTGGGGGGCATCA 0.540 OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 422 --- --- --- --- BMS1P20 96610 broad.mit.edu 37 22 22661173 22661174 + RNA INS - - C rs7410785 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr22:22661173_22661174insC ENST00000426066.1 + 0 265_266 NR_027293.1 ATACAGGTTTTCCCCCCCCACC 0.406 7 127 --- --- --- --- ZNF70 7621 broad.mit.edu 37 22 24087085 24087086 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr22:24087085_24087086insG ENST00000341976.3 - 2 702_703 c.242_243insC c.(241-243)cggfs p.R81fs NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 81 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 GTCTGGTTCCTGGGGGGATACT 0.495 8 1008 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38895454 38895455 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr22:38895454_38895455insC ENST00000396821.3 - 3 587_588 c.488_489insG c.(487-489)ggafs p.G163fs DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 84 Helicase ATP-binding. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity p.G163fs*20(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GACAAACATCTCCCCCCCTCAC 0.381 13 286 --- --- --- --- TBC1D22A 25771 broad.mit.edu 37 22 47188443 47188444 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chr22:47188443_47188444insC ENST00000337137.4 + 2 255_256 c.89_90insC c.(88-90)cccfs p.P30fs TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 30 intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GGTGCCCAGCACCCCCCCTTTG 0.569 13 501 --- --- --- --- TFE3 7030 broad.mit.edu 37 X 48887951 48887952 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chrX:48887951_48887952insC ENST00000315869.7 - 10 1704_1705 c.1445_1446insG c.(1444-1446)gccfs p.A482fs TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 482 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 TCTGGGCAGGTCCCCCCCCTAC 0.649 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 39 237 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50165268 50165269 + RNA INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chrX:50165268_50165269insT ENST00000376025.2 - 0 897 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AAGACCATCACTTTTTTTCTTC 0.381 2 4 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350711 50350713 + In_Frame_Del DEL TCC TCC - rs6614551 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chrX:50350711_50350713delTCC ENST00000376020.2 - 6 3454_3456 c.3429_3431delGGA c.(3427-3432)gaa>ga p.EE1149del SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1149 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttctt 0.547 8 26 --- --- --- --- IL2RG 3561 broad.mit.edu 37 X 70327613 70327614 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chrX:70327613_70327614insG ENST00000374202.2 - 8 1173_1174 c.1082_1083insC c.(1081-1083)ctgfs p.L361fs IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 361 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GGGTGTAACATGGGGGGGCCCA 0.584 Severe Combined Immunodeficiency, X-linked 7 110 --- --- --- --- FRMPD3 84443 broad.mit.edu 37 X 106844202 106844203 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chrX:106844202_106844203insC ENST00000276185.4 + 16 3032_3033 c.3032_3033insC c.(3031-3033)accfs p.T1011fs Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1011 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GCTTTGGGGAACCCCCCCAGCA 0.559 7 43 --- --- --- --- FRMPD3 84443 broad.mit.edu 37 X 106845402 106845403 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chrX:106845402_106845403insG ENST00000276185.4 + 16 4232_4233 c.4232_4233insG c.(4231-4233)tggfs p.W1411fs Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1411 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 ACGTGTGCCTCGGGGGGCGAGT 0.609 7 261 --- --- --- --- ZCCHC12 170261 broad.mit.edu 37 X 117960135 117960136 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chrX:117960135_117960136insC ENST00000310164.2 + 4 1435_1436 c.928_929insC c.(928-930)cccfs p.P310fs NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 GGTCATTGATTCCCCCCACAAT 0.564 8 546 --- --- --- --- F8 2157 broad.mit.edu 37 X 154157685 154157686 + Frame_Shift_Ins INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 c1c63fb7-47c4-4d5c-ad01-6a51f605475e g.chrX:154157685_154157686insT ENST00000360256.4 - 14 4579_4580 c.4379_4380insA c.(4378-4380)aaafs p.K1460fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1460 B. N -> K (in HEMA). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.N1460fs*5(2)|p.N1460fs*2(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAGAAAGGTTATTTTTTTTGGC 0.416 8 466 --- --- --- --- RPE65 6121 broad.mit.edu 37 1 68897205 68897206 + Frame_Shift_Ins INS - - A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr1:68897205_68897206insA ENST00000262340.5 - 11 1244_1245 c.1191_1192insT c.(1189-1194)agacgafs p.RR397fs NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 397 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 ATAGTCTCGTCACTGCACAGAA 0.470 44 119 --- --- --- --- NUP133 55746 broad.mit.edu 37 1 229600610 229600620 + Frame_Shift_Del DEL GGACCACTTGT GGACCACTTGT - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr1:229600610_229600620delGGACCACTTGT ENST00000261396.3 - 18 2393_2403 c.2302_2312delACAAGTGGTCC c.(2302-2313)tfs p.TSGP768fs NUP133_ENST00000537506.1_Frame_Shift_Del_p.TSGP752fs|NUP133_ENST00000366679.1_Frame_Shift_Del_p.TSGP768fs NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 768 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) GATGCCACCAGGACCACTTGTTGCTGTGAAA 0.436 13 191 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52702569 52702569 + Frame_Shift_Del DEL T T - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr3:52702569delT ENST00000356770.4 - 3 331 c.329delA c.(328-330)atfs p.N110fs PBRM1_ENST00000296302.7_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N110fs Q86U86 PB1_HUMAN polybromo 1 110 Bromo 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.N110fs*3(3) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) AGTCAGCAAATTAACATCATC 0.328 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 21 38 --- --- --- --- COPB2 9276 broad.mit.edu 37 3 139090606 139090606 + Frame_Shift_Del DEL A A - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr3:139090606delA ENST00000333188.5 - 10 1345 c.1164delT c.(1162-1164)ttfs p.F388fs COPB2_ENST00000507777.1_Frame_Shift_Del_p.F359fs NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 388 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 GAGCAGATCCAAAGCTCTTGT 0.468 116 263 --- --- --- --- ZKSCAN3 80317 broad.mit.edu 37 6 28334004 28334004 + Frame_Shift_Del DEL T T - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr6:28334004delT ENST00000377255.3 + 7 1856 c.1559delT c.(1558-1560)atfs p.I520fs ZKSCAN3_ENST00000252211.2_Frame_Shift_Del_p.I520fs|ZKSCAN3_ENST00000341464.5_Frame_Shift_Del_p.I372fs NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 520 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 TTCACCCGAATTTCATACCTT 0.433 126 202 --- --- --- --- BAG6 7917 broad.mit.edu 37 6 31608570 31608571 + Splice_Site INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr6:31608570_31608571insG ENST00000404765.2 - 21 3221_3222 c.2934_splice c.e21+1 p.A978_splice BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice P46379 BAG6_HUMAN BCL2-associated athanogene 6 948 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GTCCCTTACCTGGGGGGGATCA 0.535 7 296 --- --- --- --- AIM1 202 broad.mit.edu 37 6 107011654 107011655 + Frame_Shift_Del DEL TG TG - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr6:107011654_107011655delTG ENST00000369066.3 + 19 5417_5418 c.4930_4931delTG c.(4930-4932)cfs p.C1644fs AIM1_ENST00000535438.1_Frame_Shift_Del_p.C463fs NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1644 Ricin B-type lectin. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AGAAGACTGCTGCCTGACGATT 0.490 46 150 --- --- --- --- ZCWPW1 55063 broad.mit.edu 37 7 100004397 100004398 + Frame_Shift_Ins INS - - A TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr7:100004397_100004398insA ENST00000398027.2 - 12 1336_1337 c.1089_1090insT c.(1087-1092)ttgagafs p.LR363fs ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.LR243fs|ZCWPW1_ENST00000360951.4_Frame_Shift_Ins_p.LR364fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.LR243fs NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 363 PWWP. zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACTGTTTCTCCAAAAAACGTCA 0.480 8 442 --- --- --- --- PLXNA4 91584 broad.mit.edu 37 7 131831316 131831317 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr7:131831316_131831317insC ENST00000359827.3 - 28 5969_5970 c.5007_5008insG c.(5005-5010)gggcaafs p.Q1670fs PLXNA4_ENST00000321063.4_Frame_Shift_Ins_p.Q1670fs Q9HCM2 PLXA4_HUMAN plexin A4 1670 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 ACCATCTTGCTCCCCCGGTCCC 0.569 8 1455 --- --- --- --- FAM66D 100132923 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 10 93 --- --- --- --- BACE1 23621 broad.mit.edu 37 11 117167622 117167623 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr11:117167622_117167623insG ENST00000313005.6 - 2 776_777 c.316_317insC c.(316-318)cccfs p.P106fs BACE1_ENST00000445823.2_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000528053.1_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000428381.2_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Frame_Shift_Ins_p.P106fs NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 106 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) CAGGAAGGGGTGGGGGGCAGCA 0.569 7 305 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546135 11546137 + In_Frame_Del DEL TGC TGC - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr12:11546135_11546137delTGC ENST00000389362.4 - 3 910_912 c.875_877delGCA c.(874-879)aag>a p.SK292del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTCGGGACTTGCTGCCTCCTTG 0.606 7 1267 --- --- --- --- ZNF646 9726 broad.mit.edu 37 16 31089750 31089751 + Frame_Shift_Ins INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr16:31089750_31089751insT ENST00000394979.2 + 1 2528_2529 c.2105_2106insT c.(2104-2106)agafs p.R702fs ZNF646_ENST00000300850.5_Frame_Shift_Ins_p.R702fs O15015 ZN646_HUMAN zinc finger protein 646 702 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CTAGAAGACAATGAAGGCCTGG 0.619 8 36 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372597 74372597 + RNA DEL A A - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr16:74372597delA ENST00000429810.2 - 0 1599 TTCCCAGGACAAAAAAAAAAA 0.403 8 39 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74423894 74423895 + Splice_Site INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr16:74423894_74423895insC ENST00000429990.1 + 6 704_705 c.606_splice c.e6-1 p.T203_splice nuclear pore complex interacting protein family, member B15 CTTTTTCAGATCCCCCCTTCTG 0.455 9 951 --- --- --- --- TLDC1 57707 broad.mit.edu 37 16 84514302 84514303 + Frame_Shift_Ins INS - - C TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr16:84514302_84514303insC ENST00000343629.6 - 7 1271_1272 c.1089_1090insG c.(1087-1092)ggagcafs p.A364fs TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 TAATTGTGCTGCCCCCCCATAC 0.550 10 122 --- --- --- --- RPA1 6117 broad.mit.edu 37 17 1782982 1782983 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr17:1782982_1782983insG ENST00000254719.5 + 11 1191_1192 c.1081_1082insG c.(1081-1083)gggfs p.G361fs NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 361 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 TGCTACACTGTGGGGGGAAGAT 0.530 Nucleotide excision repair (NER) 7 895 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16633993 16633994 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr19:16633993_16633994insG ENST00000546361.2 - 11 2000_2001 c.1849_1850insC c.(1849-1851)tggfs p.W617fs CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Frame_Shift_Ins_p.W628fs NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 617 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 GTTGAAGCCATGGGGGGGAGGG 0.673 7 53 --- --- --- --- ZNF600 162966 broad.mit.edu 37 19 53270877 53270877 + Frame_Shift_Del DEL A A - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr19:53270877delA ENST00000338230.3 - 3 399 c.132delT c.(130-132)atfs p.I44fs NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 44 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) ACTGAAACTCAATATCATGAA 0.378 249 564 --- --- --- --- KIR2DL4 3805 broad.mit.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - rs148484482 TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr19:55324675delA ENST00000396284.2 + 6 796 c.796delA c.(796-798)aafs p.K268fs KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000402254.2_Intron killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 p.M271fs*>3(1) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTGGTGCTCCAAAAAAAAAGT 0.532 7 171 --- --- --- --- EYA2 2139 broad.mit.edu 37 20 45771755 45771757 + In_Frame_Del DEL GCA GCA - TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr20:45771755_45771757delGCA ENST00000327619.5 + 10 1320_1322 c.946_948delGCA c.(946-948)del p.A316del EYA2_ENST00000317304.6_Intron|EYA2_ENST00000357410.3_In_Frame_Del_p.A316del NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 316 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CTTCAACCTTGCAGATACACATC 0.468 24 157 --- --- --- --- ERG 2078 broad.mit.edu 37 21 39755553 39755554 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chr21:39755553_39755554insG ENST00000442448.1 - 11 1431_1432 c.1160_1161insC c.(1159-1161)cgafs p.R387fs ERG_ENST00000398897.1_Frame_Shift_Ins_p.R288fs|ERG_ENST00000453032.2_Frame_Shift_Ins_p.R312fs|ERG_ENST00000288319.7_Frame_Shift_Ins_p.R404fs|ERG_ENST00000398905.1_Frame_Shift_Ins_p.R380fs|ERG_ENST00000398919.2_Frame_Shift_Ins_p.R411fs|ERG_ENST00000398910.1_Frame_Shift_Ins_p.R388fs|ERG_ENST00000398911.1_Frame_Shift_Ins_p.R387fs|ERG_ENST00000398907.1_Frame_Shift_Ins_p.R381fs|ERG_ENST00000417133.2_Frame_Shift_Ins_p.R411fs NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 411 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) GAGATGACTCCGGGGGGTGGGG 0.589 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 7 179 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50165268 50165269 + RNA INS - - T TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chrX:50165268_50165269insT ENST00000376025.2 - 0 897 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AAGACCATCACTTTTTTTCTTC 0.381 2 4 --- --- --- --- FRMPD3 84443 broad.mit.edu 37 X 106845402 106845403 + Frame_Shift_Ins INS - - G TCGA-A3-3383-01A-01W-0886-08 TCGA-A3-3383-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb49c4-1739-433f-ae39-d26e927afff8 14591343-b381-43d0-aea0-0e02221c09c6 g.chrX:106845402_106845403insG ENST00000276185.4 + 16 4232_4233 c.4232_4233insG c.(4231-4233)tggfs p.W1411fs Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1411 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 ACGTGTGCCTCGGGGGGCGAGT 0.609 7 261 --- --- --- ---