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 FLNA 0 broad.mit.edu 37 X 153593614 153593614 + Silent SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chrX:153593614G>A ENST00000422373.1 - 11 1829 c.1581C>T c.(1579-1581)cgC>cgT p.R527R FLNA_ENST00000360319.4_Silent_p.R527R|FLNA_ENST00000344736.4_Silent_p.R527R|FLNA_ENST00000369850.3_Silent_p.R527R NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 527 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCTGCTTCACGCGCTCCTCTC 0.622000 5 159 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76937357 76937357 + Missense_Mutation SNP T T C TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chrX:76937357T>C ENST00000373344.5 - 9 3605 c.3391A>G c.(3391-3393)Aga>Gga p.R1131G ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1093G NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1131 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AATTCTATTCTTTTCAGTCTC 0.343000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 58 65 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42793431 42793431 + Silent SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr19:42793431G>A ENST00000572681.2 + 9 4028 c.3960G>A c.(3958-3960)gcG>gcA p.A1320A CIC_ENST00000160740.3_Silent_p.A411A|CIC_ENST00000575354.2_Silent_p.A411A Q96RK0 CIC_HUMAN capicua transcriptional repressor 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GTGCCTTGGCGGCCACTGGGC 0.637000 """Mis, F, S""" oligodendroglioma 27 9 0 0 1 0 0 DDX17 10521 broad.mit.edu 37 22 38890935 38890935 + Missense_Mutation SNP T T C TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr22:38890935T>C ENST00000396821.3 - 7 1096 c.997A>G c.(997-999)Atg>Gtg p.M333V DDX17_ENST00000381633.3_Missense_Mutation_p.M254V|DDX17_ENST00000432525.1_5'UTR NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 254 Helicase C-terminal. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) TCAAACCCCATATCAAGCATT 0.433000 4 147 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98576479 98576479 + Silent SNP C C T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr7:98576479C>T ENST00000359863.4 + 57 8774 c.8565C>T c.(8563-8565)tgC>tgT p.C2855C TRRAP_ENST00000355540.3_Silent_p.C2837C|TRRAP_ENST00000446306.3_Silent_p.C2837C NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2855 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.C2837C(1)|p.C2855C(1) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCCTGGAGTGCGCCTGGCGGG 0.617000 4 71 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 64057543 64057543 + Missense_Mutation SNP C C T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr12:64057543C>T ENST00000324472.4 - 3 628 c.445G>A c.(445-447)Gaa>Aaa p.E149K RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 149 multicellular organismal development|spermatid development integral to membrane p.E149*(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CTAACCATTTCAGTGCGAAAA 0.333000 27 54 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886809 123886809 + Silent SNP C C T rs3017763 TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr11:123886809C>T ENST00000320891.4 + 1 528 c.528C>T c.(526-528)taC>taT p.Y176Y NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCCAGCACTACTTCTGTGACG 0.557000 5 225 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100912542 100912542 + Silent SNP C C T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chrX:100912542C>T ENST00000328766.5 - 5 486 c.33G>A c.(31-33)gcG>gcA p.A11A ARMCX2_ENST00000330154.2_Silent_p.A11A|ARMCX2_ENST00000356824.4_Silent_p.A11A|ARMCX2_ENST00000467416.1_5'UTR NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 11 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 CTATCCCCGCCGCTACACAGC 0.567000 63 100 0 0 1 0 0 TMEM19 55266 broad.mit.edu 37 12 72091160 72091160 + Silent SNP C C T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr12:72091160C>T ENST00000266673.5 + 4 1077 c.483C>T c.(481-483)gtC>gtT p.V161V TMEM19_ENST00000549735.1_Silent_p.V161V|RP11-293I14.2_ENST00000548802.1_3'UTR NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 161 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) AAATCCCAGTCGATTTTTCCA 0.532000 8 92 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr8:12957624C>G ENST00000276297.4 - 9 2631 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 3 57 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3924509 3924509 + Missense_Mutation SNP G G A rs146431554 byFrequency TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr17:3924509G>A ENST00000381638.2 - 45 7442 c.7318C>T c.(7318-7320)Cgg>Tgg p.R2440W NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2440 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CTGACTGGCCGTTCCACCTCT 0.557000 4 100 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24772187 24772187 + Missense_Mutation SNP G G C TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr8:24772187G>C ENST00000221166.5 + 1 1663 c.881G>C c.(880-882)tGc>tCc p.C294S NEFM_ENST00000437366.2_Missense_Mutation_p.C294S|NEFM_ENST00000518131.1_Missense_Mutation_p.C294S|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA P07197 NFM_HUMAN neurofilament, medium polypeptide 294 Coil 2B.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TGGTTCAAATGCCGCTACGCC 0.602000 6 55 0 0 1 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026758 176026758 + Silent SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr5:176026758G>A ENST00000303991.4 - 2 255 c.78C>T c.(76-78)gcC>gcT p.A26A NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 26 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCAGAAGAAGGCTGTGGGTC 0.642000 20 32 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47104794 47104794 + Missense_Mutation SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chrX:47104794G>A ENST00000377107.2 + 17 2537 c.2183G>A c.(2182-2184)gGg>gAg p.G728E USP11_ENST00000218348.3_Missense_Mutation_p.G771E P51784 UBP11_HUMAN ubiquitin specific peptidase 11 771 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 GACTGCGTCGGGTACGTGATG 0.597000 16 38 0 0 1 0 0 PURB 5814 broad.mit.edu 37 7 44924053 44924053 + Missense_Mutation SNP C C T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr7:44924053C>T ENST00000395699.2 - 1 907 c.895G>A c.(895-897)Ggc>Agc p.G299S NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 299 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 TCGCCGCCGCCGCTGCCCCCA 0.587000 4 177 0 0 1 0 0 ZFAND5 0 broad.mit.edu 37 9 74970965 74970965 + Silent SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr9:74970965G>A ENST00000237937.3 - 6 1103 c.546C>T c.(544-546)gaC>gaT p.D182D ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Silent_p.D182D|ZFAND5_ENST00000343431.2_Silent_p.D182D|ZFAND5_ENST00000376960.4_Silent_p.D182D NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2 NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 182 DNA binding|zinc ion binding cervix(1)|kidney(2)|lung(2)|prostate(1) 6 AGTTGTGCTTGTCAGAGTAAC 0.378000 31 39 0 0 1 0 0 UTS2R 2837 broad.mit.edu 37 17 80332481 80332481 + Missense_Mutation SNP C C T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr17:80332481C>T ENST00000313135.2 + 1 329 c.281C>T c.(280-282)gCg>gTg p.A94V NM_018949.1 NP_061822.1 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 94 integral to membrane|plasma membrane breast(1)|endometrium(4)|kidney(1)|lung(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) GTCAACCTGGCGCTGGCCGAC 0.662000 7 12 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657737 197657737 + Silent SNP C C T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr2:197657737C>T ENST00000263956.3 - 3 443 c.354G>A c.(352-354)gcG>gcA p.A118A GTF3C3_ENST00000409364.3_Silent_p.A118A NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 118 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ATACATCGCCCGCAGTGGGTT 0.403000 16 32 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102181219 102181219 + Missense_Mutation SNP G G A rs150699636 TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr3:102181219G>A ENST00000306176.1 + 6 825 c.725G>A c.(724-726)gGc>gAc p.G242D ZPLD1_ENST00000466937.1_Missense_Mutation_p.G226D|ZPLD1_ENST00000491959.1_Missense_Mutation_p.G226D NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 226 ZP. N -> S (in Ref. 3; AAH31261). integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 AATTTGGATGGCAGGTAATTT 0.358000 12 16 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55285075 55285075 + Missense_Mutation SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr19:55285075G>A ENST00000336077.6 + 3 401 c.361G>A c.(361-363)Gtg>Atg p.V121M KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V121M|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 121 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) TCTGGACATCGTGATCATAGG 0.517000 10 193 0 0 1 0 0 LCE5A 254910 broad.mit.edu 37 1 152484246 152484246 + Missense_Mutation SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr1:152484246G>A ENST00000334269.2 + 2 412 c.236G>A c.(235-237)cGa>cAa p.R79Q NM_178438.4 NP_848525.1 Q5TCM9 LCE5A_HUMAN late cornified envelope 5A 79 Cys-rich. keratinization lung(3)|ovary(1)|prostate(3) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGTCCCTCCGACGCCGACCT 0.682000 19 16 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 4 84 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76482070 76482070 + Silent SNP C C T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr16:76482070C>T ENST00000307431.8 + 6 1082 c.697C>T c.(697-699)Ctg>Ttg p.L233L CNTNAP4_ENST00000476707.1_Silent_p.L237L|CNTNAP4_ENST00000377504.4_Silent_p.L233L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.L209L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 234 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TCACATCACACTGCAATTAAG 0.368000 3 43 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52537632 52537632 + Silent SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr15:52537632G>A ENST00000261839.7 - 18 2258 c.2097C>T c.(2095-2097)taC>taT p.Y699Y MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 699 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TGAGAATGCCGTAGCGACTGT 0.507000 4 136 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791757 42791757 + Missense_Mutation SNP C C T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr19:42791757C>T ENST00000572681.2 + 6 3438 c.3370C>T c.(3370-3372)Cgg>Tgg p.R1124W CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W Q96RK0 CIC_HUMAN capicua transcriptional repressor 215 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R215W(4) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAAGCGGCACCGGGCCCTGGT 0.612000 """Mis, F, S""" oligodendroglioma 36 20 0 0 1 0 0 ST6GALNAC4 27090 broad.mit.edu 37 9 130672316 130672316 + Silent SNP G G C TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr9:130672316G>C ENST00000335791.5 - 5 908 c.633C>G c.(631-633)ctC>ctG p.L211L ST6GALNAC4_ENST00000343609.2_Silent_p.L127L|ST6GALNAC4_ENST00000495983.1_5'UTR NM_175039.3 NP_778204.1 Q9H4F1 SIA7D_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 211 glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 AGCCGGTGCTGAGGAAGGAGC 0.642000 14 33 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11554444 11554444 + Missense_Mutation SNP C C A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr17:11554444C>A ENST00000262442.3 + 13 2224 c.2156C>A c.(2155-2157)cCt>cAt p.P719H DNAH9_ENST00000454412.2_Missense_Mutation_p.P719H NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 719 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAACACATGCCTGAGACAGCA 0.433000 73 114 7.68447e-34 8.12359e-34 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139412302 139412302 + Missense_Mutation SNP C C A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr9:139412302C>A ENST00000277541.6 - 8 1418 c.1343G>T c.(1342-1344)cGa>cTa p.R448L NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 448 EGF-like 11; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GATCTCGCATCGGGGGCCCGT 0.647000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 90 5.18039e-06 5.18039e-06 1 1 0 GDPD5 81544 broad.mit.edu 37 11 75148073 75148073 + Missense_Mutation SNP C C T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr11:75148073C>T ENST00000526177.1 - 12 3041 c.1163G>A c.(1162-1164)cGg>cAg p.R388Q GDPD5_ENST00000533784.1_Missense_Mutation_p.R407Q|GDPD5_ENST00000533805.1_Missense_Mutation_p.R281Q|GDPD5_ENST00000376282.3_Missense_Mutation_p.R407Q|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Missense_Mutation_p.R526Q|GDPD5_ENST00000529721.1_Missense_Mutation_p.R526Q Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 526 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 GTTGTAGCTCCGTATGCCACC 0.607000 3 51 0 0 1 0 0 KAL1 3730 broad.mit.edu 37 X 8503844 8503844 + Missense_Mutation SNP G G T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chrX:8503844G>T ENST00000262648.3 - 12 1779 c.1630C>A c.(1630-1632)Ctt>Att p.L544I KAL1_ENST00000481896.1_5'UTR NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 544 axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 ACCTTAGAAAGAACATGACCT 0.483000 18 36 1.66031e-10 1.70642e-10 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 28 51 0 0 1 0 0 THOC5 8563 broad.mit.edu 37 22 29913039 29913039 + Missense_Mutation SNP C C T TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr22:29913039C>T ENST00000490103.1 - 17 1782 c.1660G>A c.(1660-1662)Gcg>Acg p.A554T CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.A554T|THOC5_ENST00000397873.2_Missense_Mutation_p.A554T|THOC5_ENST00000397872.1_Missense_Mutation_p.A554T NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 554 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCGATGAGCGCCATGTAGTAG 0.537000 5 173 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25973090 25973094 + Frame_Shift_Del DEL TTCTT TTCTT - TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr2:25973090_25973094delTTCTT ENST00000435504.4 - 12 1624_1628 c.1331_1335delAAGAA c.(1330-1335)afs p.KE444fs ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCACACTCTTCTTTTCTGCCTGG 0.473 9 376 --- --- --- --- FRG2B 441581 broad.mit.edu 37 10 135438960 135438960 + Frame_Shift_Del DEL C C - TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr10:135438960delC ENST00000443774.1 - 4 532 c.483delG c.(481-483)agfs p.R161fs FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 160 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGGCCCGAGACCTATGCCGCT 0.557 7 280 --- --- --- --- GPR19 2842 broad.mit.edu 37 12 12814274 12814274 + Frame_Shift_Del DEL T T - TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr12:12814274delT ENST00000540510.1 - 2 1301 c.1109delA c.(1108-1110)acfs p.N370fs GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs Q15760 GPR19_HUMAN G protein-coupled receptor 19 370 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) GCCAACGTAGTTTTTTTTGGC 0.398 8 197 --- --- --- --- POLI 11201 broad.mit.edu 37 18 51795958 51795960 + In_Frame_Del DEL CGA CGA - rs140689079 TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr18:51795958_51795960delCGA ENST00000579534.1 + 1 185_187 c.42_44delCGA c.(40-45)ggc>gg p.GD14del POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.GD14del NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 14 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding p.D17delD(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAGGCGGCGGCGACGACGACGAG 0.729 DNA polymerases (catalytic subunits) 3 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74d72784-51c3-4879-8e4d-62fabd342a30 e26e7062-cc3e-445b-8d2b-64726bfcc8ba g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 4 7 --- --- --- ---