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 RRN3P1 730092 broad.mit.edu 37 16 21817523 21817523 + RNA SNP T T C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr16:21817523T>C ENST00000546471.1 - 0 1535 TATACACTAATCCTTAGTAAG 0.284000 6 32 0 0 0.217242 0 0 C20orf26 26074 broad.mit.edu 37 20 20180478 20180478 + Missense_Mutation SNP C C G rs147638085 TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr20:20180478C>G ENST00000245957.5 + 17 1940 c.1864C>G c.(1864-1866)Cga>Gga p.R622G C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 622 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GCGACCACGACGACAGATTGT 0.557000 4 236 0 0 0.150653 0 0 GPR124 25960 broad.mit.edu 37 8 37699044 37699044 + Missense_Mutation SNP T T A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr8:37699044T>A ENST00000315215.7 + 16 2900 c.2537T>A c.(2536-2538)cTc>cAc p.L846H GPR124_ENST00000412232.2_Missense_Mutation_p.L1063H Q96PE1 GP124_HUMAN G protein-coupled receptor 124 1063 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCCCTGGGCCTCTTCGTCTTC 0.731000 10 24 0 0 0.335167 0 0 WDR47 22911 broad.mit.edu 37 1 109554274 109554274 + Missense_Mutation SNP C C G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr1:109554274C>G ENST00000357672.3 - 4 685 c.310G>C c.(310-312)Gat>Cat p.D104H WDR47_ENST00000369962.3_Missense_Mutation_p.D132H|WDR47_ENST00000369965.4_Missense_Mutation_p.D132H|WDR47_ENST00000400794.3_Missense_Mutation_p.D139H|WDR47_ENST00000361054.3_Missense_Mutation_p.D104H O94967 WDR47_HUMAN WD repeat domain 47 132 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CTATAGTCATCTTTAGAAGGA 0.393000 8 233 0 0 0.307466 0 0 SAMD9 54809 broad.mit.edu 37 7 92732890 92732890 + Missense_Mutation SNP G G T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr7:92732890G>T ENST00000379958.2 - 3 2790 c.2521C>A c.(2521-2523)Cct>Act p.P841T NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 841 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTTTTTTCAGGATTTTGTGAT 0.358000 24 144 9.86323e-18 1.17472e-17 0.667858 1 0 TRIM51HP 440041 broad.mit.edu 37 11 55063124 55063124 + RNA SNP G G C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr11:55063124G>C ENST00000526016.1 - 0 513 NR_038174.2 GGCATCTTCTGATATTCAGCT 0.378000 8 44 0 0 0.307466 0 0 FAT4 79633 broad.mit.edu 37 4 126242308 126242308 + Missense_Mutation SNP G G T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr4:126242308G>T ENST00000394329.3 + 1 4755 c.4742G>T c.(4741-4743)aGt>aTt p.S1581I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1581 Cadherin 15. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GATCGTTATAGTGGAGACCTG 0.458000 40 173 3.54561e-26 4.31993e-26 0.847076 1 0 CCDC151 115948 broad.mit.edu 37 19 11537537 11537537 + Missense_Mutation SNP G G C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr19:11537537G>C ENST00000356392.4 - 5 767 c.680C>G c.(679-681)aCc>aGc p.T227S CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000545100.1_Missense_Mutation_p.T173S|CCDC151_ENST00000586836.1_Missense_Mutation_p.T36S NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 227 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 GTACACGCTGGTAATGTGCTC 0.622000 10 35 0 0 0.335167 0 0 CECR1 51816 broad.mit.edu 37 22 17662885 17662885 + Missense_Mutation SNP T T A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr22:17662885T>A ENST00000399839.1 - 9 1537 c.1267A>T c.(1267-1269)Aac>Tac p.N423Y CECR1_ENST00000262607.3_Missense_Mutation_p.N423Y|CECR1_ENST00000330232.4_Missense_Mutation_p.N182Y|CECR1_ENST00000399837.2_Missense_Mutation_p.N423Y|CECR1_ENST00000449907.2_Missense_Mutation_p.N381Y Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 423 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) ACAGGGTGGTTCCTCAAGTCA 0.507000 11 68 0 0 0.361761 0 0 LOC101927755 101927755 broad.mit.edu 37 17 58066651 58066651 + RNA SNP C C T rs144367363 by1000genomes TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr17:58066651C>T ENST00000586209.1 + 0 158 ACTGGTAAAGCTGTTTAAGAG 0.333000 4 23 0 0 0.150653 0 0 TXNIP 10628 broad.mit.edu 37 1 145440991 145440991 + Missense_Mutation SNP G G C rs150987946 byFrequency TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr1:145440991G>C ENST00000369317.4 + 7 1412 c.1078G>C c.(1078-1080)Gac>Cac p.D360H TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 360 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGGCTCTCAAGACAGCCCTAT 0.453000 4 255 0 0 0.150653 0 0 TENM1 10178 broad.mit.edu 37 X 124030083 124030083 + Silent SNP T T C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chrX:124030083T>C ENST00000422452.2 - 2 288 c.225A>G c.(223-225)gaA>gaG p.E75E TENM1_ENST00000371130.3_Silent_p.E75E NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTTCACAGAATTCCATCTCTG 0.448000 52 89 0 0 0.870114 0 0 PTPRF 5792 broad.mit.edu 37 1 44035299 44035299 + Missense_Mutation SNP G G T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr1:44035299G>T ENST00000359947.4 + 6 758 c.418G>T c.(418-420)Ggg>Tgg p.G140W PTPRF_ENST00000372413.3_Missense_Mutation_p.G140W|PTPRF_ENST00000372414.3_Missense_Mutation_p.G140W|PTPRF_ENST00000438120.1_Missense_Mutation_p.G140W NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 140 Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CATCGACATGGGGCCTCAGCT 0.577000 4 116 0.00909568 0.0092706 0.150653 1 0 OCA2 4948 broad.mit.edu 37 15 28230225 28230225 + Missense_Mutation SNP G G T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr15:28230225G>T ENST00000354638.3 - 13 1504 c.1349C>A c.(1348-1350)aCg>aAg p.T450K OCA2_ENST00000382996.2_Missense_Mutation_p.T450K|OCA2_ENST00000353809.5_Missense_Mutation_p.T426K NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 450 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GGTCACAGGCGTGAAGAGGAG 0.622000 Oculocutaneous Albinism 9 52 6.40141e-05 6.85404e-05 0.387290 1 0 R3HDML 140902 broad.mit.edu 37 20 42979419 42979419 + Missense_Mutation SNP T T G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr20:42979419T>G ENST00000217043.2 + 5 921 c.749T>G c.(748-750)tTc>tGc p.F250C RP5-881L22.5_ENST00000430481.1_RNA|RP5-881L22.5_ENST00000438702.1_RNA NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 250 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) TCCAACAAGTTCACGTGGTTC 0.522000 18 111 0 0 0.557998 0 0 SLC10A5 347051 broad.mit.edu 37 8 82606469 82606469 + Missense_Mutation SNP G G C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr8:82606469G>C ENST00000518568.1 - 1 1940 c.739C>G c.(739-741)Ctg>Gtg p.L247V NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 247 integral to membrane bile acid:sodium symporter activity p.L247L(1) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 ATCATGATCAGAGCCAATAAT 0.418000 35 153 0 0 0.819951 0 0 UNC79 57578 broad.mit.edu 37 14 94004418 94004418 + Silent SNP G G T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr14:94004418G>T ENST00000553484.1 + 12 1360 c.1206G>T c.(1204-1206)cgG>cgT p.R402R UNC79_ENST00000256339.4_Silent_p.R225R|UNC79_ENST00000393151.2_Silent_p.R402R|UNC79_ENST00000555664.1_Silent_p.R402R Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 402 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GGCCTGTTCGGTACTGCAAGA 0.552000 14 50 6.31663e-08 6.90271e-08 0.479597 1 0 ITGA7 3679 broad.mit.edu 37 12 56078890 56078890 + Silent SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr12:56078890C>T ENST00000257879.6 - 25 3581 c.3366G>A c.(3364-3366)ggG>ggA p.G1122G ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Silent_p.G1029G|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_Silent_p.G1116G|ITGA7_ENST00000553804.1_Silent_p.G1126G|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000555728.1_Silent_p.G1166G NM_002206.2 NP_002197.2 Q13683 ITA7_HUMAN integrin, alpha 7 1166 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GCTCGGGATGCCCGTCAGCAG 0.682000 3 29 0 0 0.115264 0 0 BCL9L 283149 broad.mit.edu 37 11 118769210 118769210 + Missense_Mutation SNP G G A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr11:118769210G>A ENST00000334801.3 - 8 5378 c.4414C>T c.(4414-4416)Cac>Tac p.H1472Y BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1472 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CGAAGGGGGTGGGACACCATG 0.706000 7 43 0 0 0.248553 0 0 MICU2 221154 broad.mit.edu 37 13 22067422 22067422 + Missense_Mutation SNP T T A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr13:22067422T>A ENST00000382374.4 - 12 1336 c.1271A>T c.(1270-1272)gAa>gTa p.E424V MICU2_ENST00000479790.1_5'UTR NM_152726.2 NP_689939.1 mitochondrial calcium uptake 2 TTTCCAGACTTCTTTTACTCC 0.313000 14 116 0 0 0.479597 0 0 PROX1 5629 broad.mit.edu 37 1 214170392 214170392 + Missense_Mutation SNP A A T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr1:214170392A>T ENST00000366958.4 + 2 1122 c.514A>T c.(514-516)Ata>Tta p.I172L PROX1_ENST00000435016.1_Missense_Mutation_p.I172L|PROX1_ENST00000261454.4_Missense_Mutation_p.I172L|PROX1_ENST00000498508.2_Missense_Mutation_p.I172L NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 172 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) GGTTGAGAATATAATTCGGGG 0.507000 10 92 0 0 0.335167 0 0 EP400 57634 broad.mit.edu 37 12 132554124 132554124 + Missense_Mutation SNP A A G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr12:132554124A>G ENST00000333577.4 + 52 9176 c.9067A>G c.(9067-9069)Acc>Gcc p.T3023A EP400_ENST00000332482.4_Missense_Mutation_p.T2950A|EP400_ENST00000389562.2_Missense_Mutation_p.T2986A|EP400_ENST00000389561.2_Missense_Mutation_p.T2987A|EP400_ENST00000330386.6_Missense_Mutation_p.T2906A Q96L91 EP400_HUMAN E1A binding protein p400 3023 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCAGTTTCTTACCACACCCAT 0.652000 21 126 0 0 0.575678 0 0 MARCH11 441061 broad.mit.edu 37 5 16067810 16067810 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr5:16067810C>T ENST00000332432.8 - 4 1178 c.979G>A c.(979-981)Gcc>Acc p.A327T NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 327 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 ATGTCTGTGGCTTTGTCATAA 0.468000 10 54 0 0 0.335167 0 0 NTRK1 4914 broad.mit.edu 37 1 156836721 156836721 + Missense_Mutation SNP C C G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr1:156836721C>G ENST00000368196.3 + 4 499 c.379C>G c.(379-381)Ctg>Gtg p.L127V NTRK1_ENST00000358660.3_Missense_Mutation_p.L127V|NTRK1_ENST00000392302.2_Missense_Mutation_p.L97V|NTRK1_ENST00000524377.1_Missense_Mutation_p.L127V NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 127 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CTTCAACGCTCTGGAGTCTCT 0.592000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 12 112 0 0 0.479597 0 0 PLAC1 10761 broad.mit.edu 37 X 133700599 133700599 + Silent SNP T T A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chrX:133700599T>A ENST00000359237.4 - 3 399 c.114A>T c.(112-114)acA>acT p.T38T PLAC1_ENST00000476971.1_5'UTR NM_021796.3 NP_068568.1 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 38 placenta development extracellular region large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) AGGGGTGCACTGTGACCATGA 0.512000 77 110 0 0 0.870114 0 0 HSPA4 3308 broad.mit.edu 37 5 132439651 132439651 + Missense_Mutation SNP T T C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr5:132439651T>C ENST00000304858.2 + 18 2541 c.2252T>C c.(2251-2253)cTg>cCg p.L751P NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 751 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding p.L751P(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGCTAAATCTGCAGAACAAG 0.358000 33 112 0 0 0.750413 0 0 SULF1 23213 broad.mit.edu 37 8 70501331 70501331 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr8:70501331C>T ENST00000260128.4 + 8 1406 c.689C>T c.(688-690)tCa>tTa p.S230L SULF1_ENST00000419716.3_Missense_Mutation_p.S230L|SULF1_ENST00000402687.4_Missense_Mutation_p.S230L|SULF1_ENST00000458141.2_Missense_Mutation_p.S230L NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 230 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CCCGAGGACTCAGCCCCACAG 0.493000 16 58 0 0 0.479597 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 42 0 0 0.184627 0 0 MYO16 23026 broad.mit.edu 37 13 109792688 109792688 + Missense_Mutation SNP C C A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr13:109792688C>A ENST00000356711.2 + 32 4188 c.4062C>A c.(4060-4062)agC>agA p.S1354R MYO16_ENST00000357550.2_Missense_Mutation_p.S1354R NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1354 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCAAGCGCAGCCCCAACACCA 0.692000 12 46 9.05144e-12 1.05434e-11 0.435327 1 0 TRPM6 140803 broad.mit.edu 37 9 77377717 77377717 + Silent SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr9:77377717C>T ENST00000451710.3 - 26 4107 c.3870G>A c.(3868-3870)cgG>cgA p.R1290R TRPM6_ENST00000449912.2_Silent_p.R1285R|TRPM6_ENST00000376864.4_Silent_p.R1290R|TRPM6_ENST00000361255.3_Silent_p.R1285R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Silent_p.R1290R Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1290 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTGGGGGATGCCGGCCTCCAG 0.488000 5 282 0 0 0.184627 0 0 VPS4B 9525 broad.mit.edu 37 18 61064278 61064278 + Missense_Mutation SNP G G T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr18:61064278G>T ENST00000238497.5 - 9 1284 c.1081C>A c.(1081-1083)Cat>Aat p.H361N NM_004869.3 NP_004860.2 O75351 VPS4B_HUMAN vacuolar protein sorting 4 homolog B (S. cerevisiae) 361 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 TTTTTAAAATGAGTAGCTGAC 0.403000 27 121 4.7796e-09 5.44772e-09 0.681144 1 0 KRT27 342574 broad.mit.edu 37 17 38938401 38938401 + Missense_Mutation SNP C C A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr17:38938401C>A ENST00000301656.3 - 1 385 c.345G>T c.(343-345)aaG>aaT p.K115N NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 115 Coil 1A.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) ACCCCTTGATCTTCTGCTCCA 0.498000 31 155 6.04164e-23 7.27743e-23 0.750413 1 0 GPR89A 653519 broad.mit.edu 37 1 145788844 145788844 + Missense_Mutation SNP T T G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr1:145788844T>G ENST00000313835.9 - 9 882 c.739A>C c.(739-741)Att>Ctt p.I247L GPR89A_ENST00000462900.2_Missense_Mutation_p.I222L|GPR89A_ENST00000478703.1_Intron|GPR89A_ENST00000454423.3_Missense_Mutation_p.I127L|GPR89A_ENST00000534502.1_Missense_Mutation_p.I222L B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89A 247 intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity breast(1)|large_intestine(3)|lung(1)|skin(1) 6 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TCCTGTTGAATAAGAGTAAGA 0.388000 24 146 0 0 0.804634 0 0 COL14A1 7373 broad.mit.edu 37 8 121228653 121228653 + Missense_Mutation SNP C C A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr8:121228653C>A ENST00000297848.3 + 14 1931 c.1661C>A c.(1660-1662)aCc>aAc p.T554N COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T554N|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T459N NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 554 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GCTCGATTAACCTGGGACCCA 0.383000 28 131 2.65835e-16 3.13094e-16 0.717897 1 0 MUC16 94025 broad.mit.edu 37 19 9061452 9061452 + Missense_Mutation SNP G G A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr19:9061452G>A ENST00000397910.4 - 3 26197 c.25994C>T c.(25993-25995)gCt>gTt p.A8665V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8667 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 CACTAAGTCAGCCAAAACAGA 0.443000 14 117 0 0 0.435327 0 0 CCPG1 9236 broad.mit.edu 37 15 55652554 55652554 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr15:55652554C>T ENST00000310958.6 - 8 1715 c.1417G>A c.(1417-1419)Gga>Aga p.G473R DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.G473R|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.G473R NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 473 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) CTGTGGCTTCCTCTGCCCCCT 0.398000 108 520 0 0 0.870114 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 4 96 0 0 0.150653 0 0 TBX21 30009 broad.mit.edu 37 17 45822521 45822521 + Missense_Mutation SNP G G A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr17:45822521G>A ENST00000177694.1 + 6 1608 c.1397G>A c.(1396-1398)cGg>cAg p.R466Q NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 466 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 TCAGAGGGACGGGGACCAGAG 0.657000 12 54 0 0 0.387290 0 0 SLC5A12 159963 broad.mit.edu 37 11 26734236 26734236 + Missense_Mutation SNP G G C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr11:26734236G>C ENST00000396005.3 - 2 666 c.357C>G c.(355-357)ttC>ttG p.F119L SLC5A12_ENST00000280467.6_Missense_Mutation_p.F119L NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 119 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 CTGGTTTGTTGAATCGTAGTT 0.408000 8 376 0 0 0.278610 0 0 SGOL2 151246 broad.mit.edu 37 2 201434403 201434403 + Missense_Mutation SNP A A G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr2:201434403A>G ENST00000357799.4 + 6 589 c.491A>G c.(490-492)aAt>aGt p.N164S SGOL2_ENST00000409203.3_Missense_Mutation_p.N164S NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 164 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TTAACTTCAAATGATGATGAA 0.318000 19 78 0 0 0.557998 0 0 RFXAP 5994 broad.mit.edu 37 13 37401839 37401839 + Missense_Mutation SNP T T G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr13:37401839T>G ENST00000255476.2 + 3 902 c.768T>G c.(766-768)aaT>aaG p.N256K RFXAP_ENST00000472888.1_3'UTR NM_000538.3 NP_000529.1 O00287 RFXAP_HUMAN regulatory factor X-associated protein 256 C-terminal domain. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) AGCTATTAAATCAGCAAGTTT 0.318000 14 60 0 0 0.457914 0 0 HERPUD2 64224 broad.mit.edu 37 7 35678029 35678029 + Missense_Mutation SNP T T G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr7:35678029T>G ENST00000396081.1 - 5 1352 c.548A>C c.(547-549)tAt>tCt p.Y183S HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.Y183S NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 183 response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 AAACGCGGGATACACTGGGAA 0.398000 16 88 0 0 0.520397 0 0 ROS1 6098 broad.mit.edu 37 6 117704636 117704636 + Missense_Mutation SNP G G T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr6:117704636G>T ENST00000368508.3 - 16 2538 c.2340C>A c.(2338-2340)gaC>gaA p.D780E ROS1_ENST00000368507.3_Missense_Mutation_p.D775E|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 780 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGGTAACAATGTCTGTGTGTC 0.403000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 48 176 2.9001e-28 3.57454e-28 0.870114 1 0 UBBP4 23666 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 85 0.00024832 0.000258058 0.150653 1 0 BDP1 55814 broad.mit.edu 37 5 70798507 70798507 + Silent SNP G G A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr5:70798507G>A ENST00000358731.4 + 15 2393 c.2130G>A c.(2128-2130)aaG>aaA p.K710K BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 710 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GATTGCAAAAGCCAAAGCCAA 0.403000 20 70 0 0 0.575678 0 0 TADA1 117143 broad.mit.edu 37 1 166826832 166826832 + Missense_Mutation SNP G G A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr1:166826832G>A ENST00000367874.4 - 8 1073 c.980C>T c.(979-981)gCa>gTa p.A327V TADA1_ENST00000467021.1_5'UTR NM_053053.3 NP_444281.1 Q96BN2 TADA1_HUMAN transcriptional adaptor 1 327 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 11 CTCCTTGGCTGCCAAGCGCTG 0.453000 4 150 0 0 0.150653 0 0 VIM 7431 broad.mit.edu 37 10 17277297 17277297 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr10:17277297C>T ENST00000544301.1 + 7 1551 c.1138C>T c.(1138-1140)Ctt>Ttt p.L380F VIM_ENST00000224237.5_Missense_Mutation_p.L380F NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 380 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGCTCGTCACCTTCGTGAATA 0.493000 20 86 0 0 0.575678 0 0 LRBA 987 broad.mit.edu 37 4 151656456 151656456 + Missense_Mutation SNP A A T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr4:151656456A>T ENST00000535741.1 - 36 6181 c.5708T>A c.(5707-5709)cTg>cAg p.L1903Q LRBA_ENST00000507224.1_Missense_Mutation_p.L1903Q|LRBA_ENST00000510413.1_Missense_Mutation_p.L1903Q|LRBA_ENST00000357115.3_Missense_Mutation_p.L1903Q P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1903 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CTGCCTGCTCAGGATAAATTC 0.363000 55 305 0 0 0.870114 0 0 RGS3 5998 broad.mit.edu 37 9 116356444 116356444 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr9:116356444C>T ENST00000462403.1 + 1 679 c.245C>T c.(244-246)gCt>gTt p.A82V RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000343817.5_Intron NM_144489.2 NP_652760.2 P49796 RGS3_HUMAN regulator of G-protein signaling 3 0 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GCGTGTGTGGCTGCAGCCTGC 0.667000 29 120 0 0 0.717897 0 0 JAGN1 84522 broad.mit.edu 37 3 9934835 9934835 + Missense_Mutation SNP T T A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr3:9934835T>A ENST00000307768.4 + 2 495 c.326T>A c.(325-327)cTc>cAc p.L109H NM_032492.3 NP_115881.3 Q8N5M9 JAGN1_HUMAN jagunal homolog 1 (Drosophila) 109 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1) 10 Medulloblastoma(99;0.227) AGCATGGGACTCTTTTCCATC 0.517000 25 96 0 0 0.667858 0 0 SMG1 23049 broad.mit.edu 37 16 18908185 18908185 + Missense_Mutation SNP A A T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr16:18908185A>T ENST00000446231.2 - 2 598 c.186T>A c.(184-186)aaT>aaA p.N62K SMG1_ENST00000565224.1_Missense_Mutation_p.N36K|SMG1_ENST00000389467.3_Missense_Mutation_p.N62K Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 62 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CCACAGCTGAATTTGAAGGTT 0.403000 7 26 0 0 0.248553 0 0 TNC 3371 broad.mit.edu 37 9 117852928 117852928 + Missense_Mutation SNP T T A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr9:117852928T>A ENST00000350763.4 - 2 781 c.370A>T c.(370-372)Agc>Tgc p.S124C TNC_ENST00000535648.1_Missense_Mutation_p.S124C|TNC_ENST00000340094.3_Missense_Mutation_p.S124C|TNC_ENST00000423613.2_Missense_Mutation_p.S124C|TNC_ENST00000345230.3_Missense_Mutation_p.S124C|TNC_ENST00000341037.4_Missense_Mutation_p.S124C|TNC_ENST00000537320.1_Missense_Mutation_p.S124C|TNC_ENST00000542877.1_Missense_Mutation_p.S124C|TNC_ENST00000346706.3_Missense_Mutation_p.S124C NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 124 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TCCAGTCTGCTCAGCAGCTCC 0.592000 80 352 0 0 0.870114 0 0 BRD9 65980 broad.mit.edu 37 5 864655 864655 + Silent SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr5:864655C>T ENST00000323510.4 - 13 1433 c.1434G>A c.(1432-1434)gaG>gaA p.E478E BRD9_ENST00000467963.1_Silent_p.E574E|BRD9_ENST00000483173.1_Silent_p.E521E|BRD9_ENST00000388890.4_Silent_p.E458E Q9H8M2 BRD9_HUMAN bromodomain containing 9 574 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CGTCTGGCTGCTCCCCGACAC 0.562000 12 80 0 0 0.435327 0 0 RPAP3 79657 broad.mit.edu 37 12 48063952 48063952 + Silent SNP T T G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr12:48063952T>G ENST00000005386.3 - 13 1579 c.1464A>C c.(1462-1464)acA>acC p.T488T RPAP3_ENST00000432584.3_Silent_p.T329T|RPAP3_ENST00000380650.4_Silent_p.T454T NM_024604.2 NP_078880.2 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 488 binding endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Lung SC(27;0.192) GAGTATCACTTGTGGGAAAAA 0.388000 37 190 0 0 0.796494 0 0 IARS2 55699 broad.mit.edu 37 1 220284279 220284279 + Splice_Site SNP G G T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr1:220284279G>T ENST00000366922.1 + 11 1594 c.1263_splice c.e11+1 p.K421_splice IARS2_ENST00000302637.5_Splice_Site_p.K493_splice Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 493 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) CTGCAGCCAAGGTATAAAAAG 0.453000 9 83 7.48243e-07 8.09324e-07 0.335167 1 0 DIP2B 57609 broad.mit.edu 37 12 51089695 51089695 + Missense_Mutation SNP A A C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr12:51089695A>C ENST00000301180.5 + 16 1912 c.1878A>C c.(1876-1878)agA>agC p.R626S NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 626 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 GGGACCAAAGAGACGTGAGCT 0.423000 63 217 0 0 0.870114 0 0 C11orf16 56673 broad.mit.edu 37 11 8948531 8948531 + Missense_Mutation SNP G G T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr11:8948531G>T ENST00000326053.5 - 4 621 c.515C>A c.(514-516)cCt>cAt p.P172H C11orf16_ENST00000525780.1_Missense_Mutation_p.P172H NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 172 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) AACAGTGCCAGGGCCATACTG 0.547000 18 91 2.94398e-08 3.25065e-08 0.557998 1 0 TTN 7273 broad.mit.edu 37 2 179462404 179462404 + Missense_Mutation SNP T T A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr2:179462404T>A ENST00000589042.1 - 294 57629 c.57405A>T c.(57403-57405)caA>caT p.Q19135H TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q17494H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q10195H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q10262H|TTN_ENST00000342992.6_Missense_Mutation_p.Q16567H|TTN_ENST00000460472.2_Missense_Mutation_p.Q10070H|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17494 Ig-like 108. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGTGGCTTCTTGAGGTAAGG 0.483000 14 75 0 0 0.457914 0 0 TEX11 56159 broad.mit.edu 37 X 69871375 69871375 + Nonsense_Mutation SNP G G A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chrX:69871375G>A ENST00000395889.2 - 18 1608 c.1453C>T c.(1453-1455)Cga>Tga p.R485* TEX11_ENST00000374333.2_Nonsense_Mutation_p.R470*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.R485*|TEX11_ENST00000374320.2_Nonsense_Mutation_p.R160* NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 485 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) GGGTCATGTCGTTCAGCTTCT 0.348000 13 38 0 0 0.479597 0 0 GOLGB1 2804 broad.mit.edu 37 3 121415881 121415881 + Nonsense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr3:121415881C>T ENST00000393667.3 - 13 3599 c.3489G>A c.(3487-3489)tgG>tgA p.W1163* GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.W1158* NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1158 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GTTCTGGTTTCCAGTGTTCAC 0.433000 70 258 0 0 0.870114 0 0 RS1 6247 broad.mit.edu 37 X 18690181 18690181 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chrX:18690181C>T ENST00000379984.3 - 1 48 c.8G>A c.(7-9)cGc>cAc p.R3H NM_000330.3 NP_000321.1 O15537 XLRS1_HUMAN retinoschisin 1 3 cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space p.R3H(1) cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1) 15 Hepatocellular(33;0.183) TTCTATCTTGCGTGACATCTT 0.428000 4 107 0 0 0.217242 0 0 TBC1D2 55357 broad.mit.edu 37 9 101017592 101017592 + Translation_Start_Site SNP G G T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr9:101017592G>T ENST00000342112.5 - 0 280 TBC1D2_ENST00000375064.1_Missense_Mutation_p.L78M|TBC1D2_ENST00000375066.5_Missense_Mutation_p.L78M Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GAGTAATACAGCTGACATTTC 0.547000 24 89 1.96895e-08 2.19693e-08 0.639603 1 0 KLHDC10 23008 broad.mit.edu 37 7 129769357 129769357 + Missense_Mutation SNP G G C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr7:129769357G>C ENST00000335420.5 + 9 1194 c.1060G>C c.(1060-1062)Gtg>Ctg p.V354L NM_014997.3 NP_055812.1 Q6PID8 KLD10_HUMAN kelch domain containing 10 354 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 TTTCCAATGGGTGAAGCTCCC 0.403000 35 146 0 0 0.769981 0 0 ANK3 288 broad.mit.edu 37 10 61874052 61874052 + Missense_Mutation SNP A A G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr10:61874052A>G ENST00000280772.1 - 26 3070 c.2879T>C c.(2878-2880)cTt>cCt p.L960P ANK3_ENST00000373827.2_Missense_Mutation_p.L954P|ANK3_ENST00000503366.1_Missense_Mutation_p.L961P|ANK3_ENST00000355288.2_Missense_Mutation_p.L94P NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 960 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTAATGTCTAAGAGAATCTGA 0.348000 17 82 0 0 0.520397 0 0 TDRD1 56165 broad.mit.edu 37 10 115973103 115973103 + Splice_Site SNP A A T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr10:115973103A>T ENST00000251864.2 + 15 1984 c.e15-1 TDRD1_ENST00000369280.1_Splice_Site|TDRD1_ENST00000369282.1_Splice_Site|TDRD1_ENST00000369281.2_Splice_Site|TDRD1_ENST00000422662.1_Splice_Site NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) ATTCTTTGTTAGGAGTAAAGC 0.333000 15 91 0 0 0.457914 0 0 METAP2 10988 broad.mit.edu 37 12 95888731 95888731 + Splice_Site SNP A A T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr12:95888731A>T ENST00000323666.5 + 6 819 c.e6-1 METAP2_ENST00000551840.1_Splice_Site|METAP2_ENST00000550777.1_Splice_Site|METAP2_ENST00000261220.9_Splice_Site|METAP2_ENST00000546753.1_Splice_Site NM_006838.3 NP_006829.1 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13 L-Methionine(DB00134) TTTTTGTTTTAGTGAAAAGTT 0.323000 25 72 0 0 0.639603 0 0 MAPK7 5598 broad.mit.edu 37 17 19284327 19284327 + Missense_Mutation SNP C C A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr17:19284327C>A ENST00000308406.5 + 4 1191 c.805C>A c.(805-807)Cac>Aac p.H269N MAPK7_ENST00000395602.4_Missense_Mutation_p.H269N|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.H130N|MAPK7_ENST00000395604.3_Missense_Mutation_p.H269N NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 269 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) AAACTATGTACACCAGCTACA 0.562000 11 77 0.000978159 0.00100665 0.387290 1 0 FAM120AOS 158293 broad.mit.edu 37 9 96212845 96212845 + Silent SNP A A G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr9:96212845A>G ENST00000375412.5 - 2 1482 c.600T>C c.(598-600)gcT>gcC p.A200A FAM120AOS_ENST00000479094.1_5'UTR|FAM120AOS_ENST00000423591.1_Silent_p.A18A NM_198841.2 NP_942138.2 Q5T036 F120S_HUMAN family with sequence similarity 120A opposite strand 200 kidney(1)|large_intestine(1)|lung(3)|skin(1) 6 GTCCGGCCACAGCCTGTCGGT 0.502000 22 66 0 0 0.592651 0 0 RRAGC 64121 broad.mit.edu 37 1 39321416 39321416 + Missense_Mutation SNP T T C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr1:39321416T>C ENST00000373001.3 - 3 781 c.605A>G c.(604-606)gAc>gGc p.D202G NM_022157.2 NP_071440.1 Q9HB90 RRAGC_HUMAN Ras-related GTP binding C 202 apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent lysosome|nucleus GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) ATCTGCAAGGTCATCATTGGC 0.398000 41 236 0 0 0.853193 0 0 SP140 11262 broad.mit.edu 37 2 231150512 231150512 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr2:231150512C>T ENST00000392045.3 + 17 1724 c.1610C>T c.(1609-1611)gCg>gTg p.A537V SP140_ENST00000420434.3_Missense_Mutation_p.A510V|SP140_ENST00000417495.3_Missense_Mutation_p.A423V|SP140_ENST00000486687.2_Missense_Mutation_p.A461V|SP140_ENST00000350136.5_Missense_Mutation_p.A406V|SP140_ENST00000343805.6_Missense_Mutation_p.A477V NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 537 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GAAAAGAAGGCGAACGTGAAT 0.448000 33 167 0 0 0.769981 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 2 4 0 0 0.115264 0 0 GPR142 350383 broad.mit.edu 37 17 72368005 72368005 + Missense_Mutation SNP G G A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr17:72368005G>A ENST00000335666.4 + 4 703 c.655G>A c.(655-657)Gga>Aga p.G219R NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 219 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CCTCCTGCAGGGAGCAGTGCT 0.632000 11 38 0 0 0.411799 0 0 DOK4 55715 broad.mit.edu 37 16 57508842 57508842 + Silent SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr16:57508842C>T ENST00000566936.1 - 5 759 c.462G>A c.(460-462)gaG>gaA p.E154E DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Silent_p.E154E|DOK4_ENST00000340099.4_Silent_p.E154E Q8TEW6 DOK4_HUMAN docking protein 4 154 IRS-type PTB. insulin receptor binding kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 6 GCAGCTTGCACTCGCCATACA 0.607000 10 54 0 0 0.361761 0 0 CLASP1 23332 broad.mit.edu 37 2 122363357 122363357 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr2:122363357C>T ENST00000263710.4 - 2 504 c.115G>A c.(115-117)Gac>Aac p.D39N CLASP1_ENST00000455322.2_Missense_Mutation_p.D39N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D39N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D39N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D39N NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 39 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TGCTCAAGGTCAGCAGACTTC 0.478000 23 93 0 0 0.608945 0 0 GOLGB1 2804 broad.mit.edu 37 3 121415891 121415891 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr3:121415891C>T ENST00000393667.3 - 13 3589 c.3479G>A c.(3478-3480)aGt>aAt p.S1160N GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1155N NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1155 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CCAGTGTTCACTACTACCTGT 0.438000 71 265 0 0 0.870114 0 0 DPEP3 64180 broad.mit.edu 37 16 68009728 68009728 + Nonsense_Mutation SNP G G T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr16:68009728G>T ENST00000268793.4 - 10 1855 c.1482C>A c.(1480-1482)taC>taA p.Y494* NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 469 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) CTGGAACAAGGTATGGGGAGG 0.602000 5 36 8.12818e-05 8.61588e-05 0.248553 1 0 PPBP 5473 broad.mit.edu 37 4 74853010 74853010 + Silent SNP T T C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr4:74853010T>C ENST00000296028.3 - 3 459 c.366A>G c.(364-366)gcA>gcG p.A122A NM_002704.3 NP_002695.1 P02775 CXCL7_HUMAN pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 122 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2) 10 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) ATTCATCACCTGCCAATTTTT 0.408000 3 142 0 0 0.150653 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 4 135 0 0 0.150653 0 0 VWC2 375567 broad.mit.edu 37 7 49842426 49842426 + Silent SNP C C A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr7:49842426C>A ENST00000340652.3 + 3 1372 c.816C>A c.(814-816)atC>atA p.I272I NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 272 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 GCTGTCCCATCTGCAAAAATG 0.572000 13 59 1.5842e-08 1.78644e-08 0.435327 1 0 REV3L 5980 broad.mit.edu 37 6 111709251 111709251 + Missense_Mutation SNP T T A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr6:111709251T>A ENST00000435970.1 - 10 1482 c.666A>T c.(664-666)aaA>aaT p.K222N REV3L_ENST00000358835.3_Missense_Mutation_p.K300N|REV3L_ENST00000368805.1_Missense_Mutation_p.K300N|REV3L_ENST00000368802.3_Missense_Mutation_p.K300N O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 300 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TCTTCTGAAATTTTTTTTCAC 0.284000 DNA polymerases (catalytic subunits) 30 125 0 0 0.750413 0 0 MUC2 4583 broad.mit.edu 37 11 1080916 1080916 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr11:1080916C>T ENST00000441003.2 + 10 1327 c.1300C>T c.(1300-1302)Ccc>Tcc p.P434S MUC2_ENST00000359061.5_Missense_Mutation_p.P434S NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 434 VWFD 2. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CGAGCTGGCCCCCTGTGGCTC 0.637000 9 54 0 0 0.387290 0 0 SPTBN1 6711 broad.mit.edu 37 2 54880792 54880792 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr2:54880792C>T ENST00000333896.5 + 26 5970 c.5585C>T c.(5584-5586)gCg>gTg p.A1862V SPTBN1_ENST00000356805.4_Missense_Mutation_p.A1875V NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1875 Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GCGGCCTATGCGGGTGACAAG 0.657000 4 78 0 0 0.150653 0 0 LRMP 4033 broad.mit.edu 37 12 25232608 25232608 + Missense_Mutation SNP T T A rs147316104 TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr12:25232608T>A ENST00000354454.3 + 8 984 c.155T>A c.(154-156)cTg>cAg p.L52Q LRMP_ENST00000547044.1_Missense_Mutation_p.L52Q|LRMP_ENST00000548766.1_Missense_Mutation_p.L52Q NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 108 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) TTAGAAATTCTGAATATGGCT 0.378000 21 109 0 0 0.729181 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348224 89348224 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr16:89348224C>T ENST00000301030.4 - 9 5186 c.4726G>A c.(4726-4728)Ggc>Agc p.G1576S ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1576S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1576 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) ATCAGGTCGCCGTCCCCCAGG 0.587000 13 63 0 0 0.411799 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 135 0 0 0.115264 0 0 PGR 5241 broad.mit.edu 37 11 100909954 100909954 + Missense_Mutation SNP G G A TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr11:100909954G>A ENST00000325455.5 - 8 4148 c.2695C>T c.(2695-2697)Cgg>Tgg p.R899W PGR_ENST00000263463.5_Missense_Mutation_p.R797W|PGR_ENST00000534013.1_Missense_Mutation_p.R305W NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 899 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CTCAGTGCCCGGGACTGGATA 0.358000 22 94 0 0 0.592651 0 0 UROD 7389 broad.mit.edu 37 1 45480162 45480162 + Missense_Mutation SNP A A G TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr1:45480162A>G ENST00000246337.4 + 7 807 c.688A>G c.(688-690)Aac>Gac p.N230D UROD_ENST00000494399.1_3'UTR NM_000374.4 NP_000365.3 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 230 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) ACAGCTCTTCAACAAGTTTGC 0.517000 Porphyria Cutanea Tarda, Type II OREG0013449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 115 0 0 0.779181 0 0 C1orf227 149643 broad.mit.edu 37 1 213009452 213009453 + Frame_Shift_Ins INS - - T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr1:213009452_213009453insT ENST00000332912.3 - 2 146_147 c.39_40insA c.(37-42)aaatggfs p.W14fs NM_001024601.2 NP_001019772.1 Q537H7 CA227_HUMAN chromosome 1 open reading frame 227 14 kidney(1)|large_intestine(1)|lung(1) 3 CTTACTCCATGTTTTTTCATTA 0.366 44 225 --- --- --- --- RGPD3 653489 broad.mit.edu 37 2 107041102 107041102 + Frame_Shift_Del DEL T T - TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr2:107041102delT ENST00000409886.3 - 20 3408 c.3321delA c.(3319-3321)aafs p.K1107fs RGPD3_ENST00000304514.7_Frame_Shift_Del_p.K1107fs NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1107 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TAGCACACACTTTTAGTACTT 0.423 9 716 --- --- --- --- BAP1 8314 broad.mit.edu 37 3 52439196 52439196 + Frame_Shift_Del DEL T T - TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr3:52439196delT ENST00000460680.1 - 11 1517 c.1046delA c.(1045-1047)acfs p.N349fs BAP1_ENST00000296288.5_Frame_Shift_Del_p.N331fs NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 349 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.V335fs*10(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) GGGAGTGGGGTTGGGGTGAAC 0.592 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 41 143 --- --- --- --- ZBTB11 27107 broad.mit.edu 37 3 101378845 101378846 + Frame_Shift_Del DEL CA CA - TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr3:101378845_101378846delCA ENST00000312938.4 - 6 2407_2408 c.1827_1828delTG c.(1825-1830)agccfs p.SA609fs NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 609 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CGCAAAGAGGCACTGTACTGAA 0.361 20 127 --- --- --- --- KLHL24 54800 broad.mit.edu 37 3 183381405 183381407 + In_Frame_Del DEL TCT TCT - TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr3:183381405_183381407delTCT ENST00000454652.1 + 5 1466_1468 c.1080_1082delTCT c.(1078-1083)gca>gc p.AL360del KLHL24_ENST00000476808.1_In_Frame_Del_p.AL360del|KLHL24_ENST00000242810.6_In_Frame_Del_p.AL360del Q6TFL4 KLH24_HUMAN kelch-like family member 24 360 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CAGTCTGTGCTCTAAGGAATGAC 0.350 31 106 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412438 105412439 + Frame_Shift_Ins INS - - TT TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr4:105412438_105412439insTT ENST00000394767.2 - 2 971_972 c.521_522insAA c.(520-522)agafs p.R174fs CXXC4_ENST00000426831.1_Frame_Shift_Ins_p.R5fs|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 5 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TCTGGGAGTCGTTTCGGTGGTG 0.673 22 114 --- --- --- --- SLC6A19 340024 broad.mit.edu 37 5 1214127 1214129 + In_Frame_Del DEL CTT CTT - TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr5:1214127_1214129delCTT ENST00000304460.10 + 6 890_892 c.834_836delCTT c.(832-837)tcc>tc p.SF278del NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 278 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCTTCTTCTCCTTCTCCCTGGCC 0.640 23 149 --- --- --- --- RP11-368M16.3 0 broad.mit.edu 37 7 57698565 57698566 + RNA INS - - TGGG TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr7:57698565_57698566insTGGG ENST00000605139.1 - 0 416 CACAGGAGACCTGGGCTGCAGG 0.584 3 4 --- --- --- --- LOC403323 403323 broad.mit.edu 37 9 66545695 66545695 + RNA DEL A A - TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr9:66545695delA ENST00000445604.2 - 0 669 CTGTAAGAGGAAAAAAAAACA 0.373 4 8 --- --- --- --- ABCC8 6833 broad.mit.edu 37 11 17474797 17474797 + Frame_Shift_Del DEL G G - TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr11:17474797delG ENST00000302539.4 - 7 1170 c.1045delC c.(1045-1047)aafs p.Q349fs ABCC8_ENST00000389817.3_Frame_Shift_Del_p.Q349fs NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 349 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGAACTCTTGGGATGAGACA 0.468 24 100 --- --- --- --- CACNA1C 775 broad.mit.edu 37 12 2706417 2706417 + Frame_Shift_Del DEL G G - TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr12:2706417delG ENST00000399655.1 + 21 3080 c.2815delG c.(2815-2817)ttfs p.V939fs CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399617.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399634.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000406454.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399603.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.V964fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000347598.4_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.V939fs NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 939 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TTTTGATATTGTTTTTACCAC 0.493 31 208 --- --- --- --- LINC00987 100499405 broad.mit.edu 37 12 9392739 9392740 + RNA INS - - TCTTCCTCCTCC rs71045240 TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr12:9392739_9392740insTCTTCCTCCTCC ENST00000427111.3 + 0 141_142 NR_036466.1 caccatcaccttcttcctcccc 0.545 5 3 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25417973 25417973 + RNA DEL C C - TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr15:25417973delC ENST00000549301.1 + 0 503 SNHG14_ENST00000553149.1_RNA ATCCCTGTCTCTGCACTTGTC 0.602 8 49 --- --- --- --- RP4-734C18.1 0 broad.mit.edu 37 20 11256440 11256441 + RNA INS - - CTTTCTTG TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219 1dc07306-c09f-4d8e-884c-d016908fd841 g.chr20:11256440_11256441insCTTTCTTG ENST00000444792.1 - 0 303 tccctcccttcctttctttctt 0.475 3 6 --- --- --- ---