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 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 4 124 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834274 125834274 + Missense_Mutation SNP A A G TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr12:125834274A>G ENST00000299308.3 + 2 337 c.329A>G c.(328-330)aAc>aGc p.N110S TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 110 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCCTTTGGAAACATGGACAAA 0.468000 4 114 0 0 1 0 0 SLC44A3 126969 broad.mit.edu 37 1 95290099 95290099 + Silent SNP C C T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr1:95290099C>T ENST00000271227.6 + 3 288 c.186C>T c.(184-186)ctC>ctT p.L62L SLC44A3_ENST00000446120.2_Silent_p.L26L|SLC44A3_ENST00000527077.1_Silent_p.L26L|SLC44A3_ENST00000467909.1_Silent_p.L14L|SLC44A3_ENST00000532427.1_Silent_p.L14L|SLC44A3_ENST00000529450.1_Silent_p.L62L NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 62 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) GAAGACTCCTCTTTGGCTATG 0.552000 6 120 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64810532 64810532 + Nonsense_Mutation SNP C C A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr12:64810532C>A ENST00000332707.5 + 4 727 c.198C>A c.(196-198)taC>taA p.Y66* NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 66 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) AAGTTAAATACAAGTAAGGCT 0.318000 3 77 1 1 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 4 47 0 0 1 0 0 TULP2 7288 broad.mit.edu 37 19 49385438 49385438 + Missense_Mutation SNP C C T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr19:49385438C>T ENST00000221399.3 - 12 1442 c.1298G>A c.(1297-1299)cGt>cAt p.R433H NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 433 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) ACGTTGGTAACGACTCAGTAG 0.502000 8 24 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr21:11058340A>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGGGTAAAGGAGAGAAATCTC 0.363000 8 132 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77476902 77476902 + Missense_Mutation SNP G G T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr4:77476902G>T ENST00000296043.6 + 2 1262 c.309G>T c.(307-309)agG>agT p.R103S NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 103 PDZ. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) AGACCCTCAGGCTGGTAGTGC 0.592000 3 52 1 1 1 1 0 MKLN1 4289 broad.mit.edu 37 7 131012679 131012679 + Silent SNP C C T rs142689824 by1000genomes TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr7:131012679C>T ENST00000352689.6 + 1 61 c.21C>T c.(19-21)gtC>gtT p.V7V MKLN1_ENST00000421797.2_Intron|MKLN1_ENST00000429546.1_Intron NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 7 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) GCGGAGCTGTCGCTGCGGCGC 0.677000 7 64 0 0 1 0 0 STX17 55014 broad.mit.edu 37 9 102713485 102713485 + Silent SNP A A G TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr9:102713485A>G ENST00000259400.6 + 4 469 c.333A>G c.(331-333)gaA>gaG p.E111E STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Silent_p.E111E|STX17_ENST00000534052.1_Silent_p.E111E NM_017919.2 NP_060389.2 P56962 STX17_HUMAN syntaxin 17 111 intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) TCCATTTGGAATCTGTAGAAG 0.393000 11 40 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49724313 49724313 + Missense_Mutation SNP G G T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr12:49724313G>T ENST00000551245.1 + 13 1796 c.1685G>T c.(1684-1686)aGt>aTt p.S562I TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000257909.3_Missense_Mutation_p.S562I Q12815 TROAP_HUMAN trophinin associated protein 562 4 X 33 AA approximate tandem repeats.|Cys-rich. cell adhesion cytoplasm p.S562I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 TGCTGTAGGAGTGAGCCTGAG 0.592000 5 74 0.0215528 0.0231692 1 1 0 LRP1 4035 broad.mit.edu 37 12 57605751 57605751 + Missense_Mutation SNP C C G TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr12:57605751C>G ENST00000243077.3 + 87 13766 c.13300C>G c.(13300-13302)Ctg>Gtg p.L4434V NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4434 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) GCTGCTGCTGCTGGTTCTGGT 0.547000 3 187 0 0 1 0 0 LECT2 3950 broad.mit.edu 37 5 135288629 135288629 + Translation_Start_Site SNP C C T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr5:135288629C>T ENST00000512872.1 - 0 198 LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y|LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000274507.1_Missense_Mutation_p.C25Y O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 chemotaxis|skeletal system development cytoplasm|extracellular space p.C25Y(1) large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTTGCCAGCACATATATTAGC 0.517000 8 181 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27426733 27426733 + Silent SNP G G A rs59827696 TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr2:27426733G>A ENST00000310574.3 - 10 1481 c.1008C>T c.(1006-1008)ttC>ttT p.F336F SLC5A6_ENST00000408041.1_Silent_p.F336F NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 336 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) AGTACAGGACGAACTGCAAGC 0.592000 3 27 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52869962 52869962 + Silent SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr6:52869962G>A ENST00000356971.3 - 15 2373 c.1884C>T c.(1882-1884)taC>taT p.Y628Y ICK_ENST00000350082.5_Silent_p.Y628Y NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 628 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) GCCGAGATGCGTACTTGGAAG 0.567000 4 180 0 0 1 0 0 MAB21L1 4081 broad.mit.edu 37 13 36050055 36050055 + Missense_Mutation SNP A A T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr13:36050055A>T ENST00000379919.4 - 1 777 c.221T>A c.(220-222)tTt>tAt p.F74Y NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 74 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CACCACTTCAAATTCGGTGGG 0.572000 4 132 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56207613 56207613 + Missense_Mutation SNP T T C TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr15:56207613T>C ENST00000508342.1 - 1 1716 c.1417A>G c.(1417-1419)Aag>Gag p.K473E NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.K473E|NEDD4_ENST00000506154.1_Missense_Mutation_p.K473E P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 473 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CAATTGTGCTTAAGGCTGGAT 0.378000 5 89 0 0 1 0 0 LRP2BP 55805 broad.mit.edu 37 4 186291863 186291863 + Silent SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr4:186291863G>A ENST00000362004.3 - 7 1726 c.915C>T c.(913-915)caC>caT p.H305H LRP2BP_ENST00000505916.1_Silent_p.H303H|LRP2BP_ENST00000328559.7_Silent_p.H303H|LRP2BP_ENST00000510776.1_Silent_p.H277H Q9P2M1 LR2BP_HUMAN LRP2 binding protein 303 cytoplasm protein binding breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) GACACCTTGCGTGGTAGAAGG 0.478000 5 98 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72137670 72137670 + Missense_Mutation SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr16:72137670G>A ENST00000268482.3 + 13 2316 c.1807G>A c.(1807-1809)Gga>Aga p.G603R DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 603 Helicase ATP-binding. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) AGAGATGGGGGGAAACCTTGG 0.542000 3 54 0 0 1 0 0 WNT4 54361 broad.mit.edu 37 1 22447975 22447975 + Silent SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr1:22447975G>A ENST00000290167.6 - 3 451 c.408C>T c.(406-408)tgC>tgT p.C136C WNT4_ENST00000542383.1_Silent_p.C81C NM_030761.4 NP_110388.2 P56705 WNT4_HUMAN wingless-type MMTV integration site family, member 4 136 adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 8 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TGTCACAGCCGCACTTCTCCA 0.672000 4 121 0 0 1 0 0 TCP1 6950 broad.mit.edu 37 6 160205735 160205735 + Silent SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr6:160205735G>A ENST00000321394.7 - 6 913 c.633C>T c.(631-633)atC>atT p.I211I TCP1_ENST00000392168.2_Silent_p.I56I|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000420894.2_Silent_p.I211I NM_030752.2 NP_110379.2 P17987 TCPA_HUMAN t-complex 1 211 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(2) 10 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) CATAGCCACTGATGAGCATAC 0.413000 36 86 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33586571 33586571 + Missense_Mutation SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr17:33586571G>A ENST00000299977.4 + 2 1010 c.862G>A c.(862-864)Gcc>Acc p.A288T SLFN5_ENST00000592325.1_Missense_Mutation_p.A288T|SLFN5_ENST00000542451.1_Missense_Mutation_p.A288T NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 288 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TGATAAGGGGGCCCTCCGTGG 0.473000 4 167 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2832078 2832078 + Missense_Mutation SNP C C T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr8:2832078C>T ENST00000520002.1 - 57 9193 c.8638G>A c.(8638-8640)Gcc>Acc p.A2880T CSMD1_ENST00000602723.1_Missense_Mutation_p.A2822T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A2822T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A2880T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A2821T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2879T Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2880 Sushi 21. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCACGACGGCGCCATAGGTA 0.557000 6 22 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 417066 417066 + Missense_Mutation SNP T T G TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr12:417066T>G ENST00000399788.2 - 23 3846 c.3484A>C c.(3484-3486)Aaa>Caa p.K1162Q KDM5A_ENST00000382815.4_Missense_Mutation_p.K1162Q NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1162 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 ATGCAAAATTTTACTTCTTCT 0.448000 T NUP98 AML 28 95 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94849389 94849389 + Silent SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr14:94849389G>A ENST00000448921.1 - 4 758 c.186C>T c.(184-186)taC>taT p.Y62Y SERPINA1_ENST00000402629.1_Silent_p.Y62Y|SERPINA1_ENST00000449399.3_Silent_p.Y62Y|SERPINA1_ENST00000404814.4_Silent_p.Y62Y|SERPINA1_ENST00000437397.1_Silent_p.Y62Y|SERPINA1_ENST00000393087.4_Silent_p.Y62Y|SERPINA1_ENST00000393088.4_Silent_p.Y62Y|SERPINA1_ENST00000355814.4_Silent_p.Y62Y|SERPINA1_ENST00000440909.1_Silent_p.Y62Y 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 62 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) CCAGCTGGCGGTATAGGCTGA 0.547000 4 157 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57189657 57189657 + Missense_Mutation SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr4:57189657G>A ENST00000504228.1 + 7 3407 c.3302G>A c.(3301-3303)cGg>cAg p.R1101Q KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1101Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1094Q Q6ZU35 K1211_HUMAN KIAA1211 1101 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AAGGGGTTTCGGGAGCAGCAG 0.522000 3 27 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20004644 20004644 + Missense_Mutation SNP C C A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr13:20004644C>A ENST00000400230.2 - 17 1310 c.1266G>T c.(1264-1266)aaG>aaT p.K422N TPTE2_ENST00000390680.2_Missense_Mutation_p.K345N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K345N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K382N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K311N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K382N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K422N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K311N Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 422 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AAAAGACAACCTTTTTCTCCA 0.328000 4 21 0.150653 0.158002 1 1 0 AMOT 154796 broad.mit.edu 37 X 112054552 112054552 + Missense_Mutation SNP C C A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chrX:112054552C>A ENST00000371959.3 - 3 1461 c.1462G>T c.(1462-1464)Gcc>Tcc p.A488S AMOT_ENST00000371958.1_Missense_Mutation_p.A256S|AMOT_ENST00000371962.1_Missense_Mutation_p.A256S|AMOT_ENST00000524145.1_Missense_Mutation_p.A488S|AMOT_ENST00000304758.1_Missense_Mutation_p.A79S NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 488 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 TTCTCTAGGGCCTCTCTTTTG 0.478000 6 150 2.74318e-10 3.27658e-10 1 1 0 NDUFV3 4731 broad.mit.edu 37 21 44329112 44329112 + Missense_Mutation SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr21:44329112G>A ENST00000354250.2 + 4 1472 c.1403G>A c.(1402-1404)cGg>cAg p.R468Q NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Missense_Mutation_p.R103Q NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 103 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) TCCTCAGGCCGGGAGTCACCT 0.512000 8 173 0 0 1 0 0 RMDN3 55177 broad.mit.edu 37 15 41046872 41046872 + Missense_Mutation SNP C C A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr15:41046872C>A ENST00000260385.6 - 1 1177 c.110G>T c.(109-111)cGg>cTg p.R37L RMDN3_ENST00000338376.3_Missense_Mutation_p.R37L regulator of microtubule dynamics 3 ACGCTGGGTCCGTTTCCATCG 0.662000 3 64 0.00909568 0.0100286 1 1 0 EML2 24139 broad.mit.edu 37 19 46124495 46124495 + Silent SNP G G T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr19:46124495G>T ENST00000536630.1 - 14 1671 c.1533C>A c.(1531-1533)tcC>tcA p.S511S EML2_ENST00000245925.3_Silent_p.S364S|EML2_ENST00000589876.1_Silent_p.S364S|EML2_ENST00000587152.1_Silent_p.S565S NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 364 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CTGTGTGCACGGAGCCCTGCA 0.642000 3 59 6.4e-05 7.24211e-05 1 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68274320 68274320 + Silent SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr14:68274320G>A ENST00000347230.4 - 5 819 c.681C>T c.(679-681)tgC>tgT p.C227C ZFYVE26_ENST00000555452.1_Silent_p.C227C NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 227 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GTTCTGCGGGGCAACGCAGAG 0.622000 3 53 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55505553 55505555 + In_Frame_Del DEL CTG CTG - rs67610340 TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr1:55505553_55505555delCTG ENST00000302118.5 + 1 333_335 c.43_45delCTG c.(43-45)del p.L23del PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 23 L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia). cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 gccgctgccactgctgctgctgc 0.709 2 4 --- --- --- --- RP11-333E13.4 0 broad.mit.edu 37 4 40057344 40057345 + RNA INS - - CAC TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr4:40057344_40057345insCAC ENST00000381811.2 - 0 239 NR_027277.1 accactaccatcaccaccacca 0.441 4 5 --- --- --- --- NHLRC2 374354 broad.mit.edu 37 10 115614727 115614727 + Frame_Shift_Del DEL G G - TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr10:115614727delG ENST00000369301.3 + 1 308 c.96delG c.(94-96)cafs p.Q32fs NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 32 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) TTACCCAGCAGGAGAAGGACA 0.672 2 4 --- --- --- --- C11orf95 65998 broad.mit.edu 37 11 63531514 63531516 + RNA DEL CTC CTC - TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr11:63531514_63531516delCTC ENST00000433688.1 - 0 1597_1599 C9JLR9 CK095_HUMAN chromosome 11 open reading frame 95 intracellular zinc ion binding GCTCACCCCActcctcctcctcc 0.714 3 5 --- --- --- --- DNAH10 196385 broad.mit.edu 37 12 124356031 124356031 + Frame_Shift_Del DEL C C - TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr12:124356031delC ENST00000409039.3 + 44 7338 c.7313delC c.(7312-7314)acfs p.T2438fs NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2438 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACTCGGACTACCTGGATATTG 0.433 2 4 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086382 20086383 + RNA INS - - AAAA TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr14:20086382_20086383insAAAA ENST00000548261.1 + 0 135 TCTTACAAGGTAAAAAAAATGA 0.312 3 5 --- --- --- --- RP11-123M6.2 0 broad.mit.edu 37 14 101311732 101311734 + RNA DEL CCT CCT - rs61149909 TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr14:101311732_101311734delCCT ENST00000554041.1 - 0 143 CCTCATCCGCCCTCCTCCTCCTC 0.606 2 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 2 4 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2333196 2333197 + RNA DEL CT CT - rs34753713 TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr19:2333196_2333197delCT ENST00000452401.2 + 0 146 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGACTAGACTCTGCTGGGAG 0.713 3 5 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 12 --- --- --- ---