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 AFF1 4299 broad.mit.edu 37 4 88029355 88029355 + Missense_Mutation SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr4:88029355G>A ENST00000307808.6 + 10 1820 c.1400G>A c.(1399-1401)aGc>aAc p.S467N AFF1_ENST00000395146.4_Missense_Mutation_p.S474N|AFF1_ENST00000544085.1_Missense_Mutation_p.S105N NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 467 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) GCACATTCCAGCAGTGCAGAG 0.483000 3 81 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527460 23527460 + Missense_Mutation SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr5:23527460C>T ENST00000296682.3 + 11 2445 c.2263C>T c.(2263-2265)Cgg>Tgg p.R755W NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 755 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGAGTGTGGGCGGGGCTTTCG 0.582000 HNSCC(3;0.000094) 10 154 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170062576 170062576 + Missense_Mutation SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr2:170062576G>A ENST00000263816.3 - 40 7798 c.7513C>T c.(7513-7515)Cgc>Tgc p.R2505C NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2505 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.R2505S(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTTGGAACGCGGGCTATCACA 0.423000 64 107 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54308673 54308673 + Missense_Mutation SNP A A G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr19:54308673A>G ENST00000324134.6 - 5 2443 c.2275T>C c.(2275-2277)Tgc>Cgc p.C759R NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000351894.4_Missense_Mutation_p.C759R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 759 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGGTCCTCGCAGGCTGAGCTG 0.498000 3 103 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54652183 54652183 + Missense_Mutation SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr19:54652183G>A ENST00000406403.1 + 10 2798 c.1195G>A c.(1195-1197)Gga>Aga p.G399R CNOT3_ENST00000358389.3_Missense_Mutation_p.G218R|CNOT3_ENST00000221232.5_Missense_Mutation_p.G399R O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 399 Gly/Ser-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TAgcggaggcggaggcggcgg 0.716000 9 14 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 3 79 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466879 56466879 + Silent SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr19:56466879C>T ENST00000291971.3 + 3 1526 c.1455C>T c.(1453-1455)acC>acT p.T485T NLRP8_ENST00000590542.1_Silent_p.T485T NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 485 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CGGGAGTCACCGCCTTCCTTG 0.488000 63 80 0 0 1 0 0 ACPL2 92370 broad.mit.edu 37 3 141011230 141011230 + Missense_Mutation SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr3:141011230G>A ENST00000508812.1 + 5 2506 c.599G>A c.(598-600)cGg>cAg p.R200Q ACPL2_ENST00000502783.1_Missense_Mutation_p.R171Q|ACPL2_ENST00000393010.2_Missense_Mutation_p.R209Q|ACPL2_ENST00000393007.1_Missense_Mutation_p.R193Q|ACPL2_ENST00000504264.1_Missense_Mutation_p.R192Q|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Missense_Mutation_p.R209Q Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 209 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 GGGAAAAGCCGGACCCTACAA 0.483000 3 65 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36769470 36769470 + Missense_Mutation SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:36769470G>A ENST00000354618.5 + 12 2944 c.2720G>A c.(2719-2721)gGt>gAt p.G907D THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 907 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTTCCTCGGGGTCGGGGCCGG 0.597000 T USP6 aneurysmal bone cysts 12 74 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246187 56246187 + Silent SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr18:56246187C>T ENST00000361673.3 - 4 2034 c.1821G>A c.(1819-1821)caG>caA p.Q607Q ALPK2_ENST00000587399.1_5'UTR NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 607 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTTGCTCTGCCTGGGTTGAAA 0.458000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 16 0 0 1 0 0 KRT33A 3883 broad.mit.edu 37 17 39502452 39502452 + Silent SNP A A G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr17:39502452A>G ENST00000007735.3 - 7 1178 c.1134T>C c.(1132-1134)tgT>tgC p.C378C NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 378 Tail. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) TGGACTTGTCACATGCATTGG 0.522000 31 48 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2742Q(2) 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) agcagcaacagcagcagcagc 0.597000 3 42 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38906790 38906790 + Silent SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr17:38906790C>T ENST00000312150.4 - 6 1077 c.1017G>A c.(1015-1017)gcG>gcA p.A339A NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 339 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity p.A339A(2) endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) CCTGGATCTGCGCCAGCTGCG 0.562000 10 219 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179438180 179438180 + Missense_Mutation SNP T T G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr2:179438180T>G ENST00000589042.1 - 326 72903 c.72679A>C c.(72679-72681)Aaa>Caa p.K24227Q TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K22586Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22586 Ig-like 121. 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) TCAGGGTTTTTGGGCGGATCA 0.448000 3 114 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) 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) agcagcagcagcaacaacagc 0.562000 3 29 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147084929 147084929 + Nonsense_Mutation SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:147084929C>T ENST00000234739.3 + 5 1041 c.301C>T c.(301-303)Cga>Tga p.R101* BCL9_ENST00000473292.1_Intron NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 101 Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GAAAAGGGAGCGAAGTATTTC 0.532000 T """IGH@, IGL@""" B-ALL 4 77 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 109 0 0 1 0 0 CD46 4179 broad.mit.edu 37 1 207930436 207930436 + Silent SNP C C A rs121909590 TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:207930436C>A ENST00000358170.2 + 2 331 c.175C>A c.(175-177)Cga>Aga p.R59R CD46_ENST00000322875.4_Silent_p.R59R|CD46_ENST00000441839.2_Silent_p.R59R|CD46_ENST00000367041.1_Silent_p.R59R|CD46_ENST00000322918.5_Silent_p.R59R|CD46_ENST00000480003.1_Silent_p.R59R|CD46_ENST00000367042.1_Silent_p.R59R|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000361067.1_Silent_p.R59R|CD46_ENST00000360212.2_Silent_p.R59R|CD46_ENST00000357714.1_Silent_p.R59R|CD46_ENST00000354848.1_Silent_p.R59R|CD46_ENST00000367047.1_Intron NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 59 Sushi 1. R -> Q. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 GATTGGTGAACGAGTAGATTA 0.408000 24 79 5.35047e-06 5.94497e-06 1 1 0 VSTM4 196740 broad.mit.edu 37 10 50256602 50256602 + Silent SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr10:50256602G>A ENST00000332853.3 - 6 719 c.696C>T c.(694-696)acC>acT p.T232T NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 232 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GGGCCAAGCTGGTCACGCTAG 0.502000 3 79 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122613718 122613718 + Missense_Mutation SNP G G T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr12:122613718G>T ENST00000319080.6 + 4 773 c.641G>T c.(640-642)cGc>cTc p.R214L Q9HAP2 MLXIP_HUMAN MLX interacting protein 214 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) TGGAAGAGCCGCATCGAGATT 0.547000 3 21 0.00024832 0.000270895 1 1 0 OTUD7A 161725 broad.mit.edu 37 15 31776773 31776773 + Missense_Mutation SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr15:31776773C>T ENST00000382902.1 - 11 1618 c.1526G>A c.(1525-1527)cGc>cAc p.R509H OTUD7A_ENST00000307050.4_Missense_Mutation_p.R502H Q8TE49 OTU7A_HUMAN OTU domain containing 7A 502 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) cttctccttgcgctgcttctc 0.587000 5 13 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98254301 98254301 + Silent SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr7:98254301C>T ENST00000265634.3 + 3 876 c.711C>T c.(709-711)taC>taT p.Y237Y NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 237 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) ACTACCTATACGGCAAGATCA 0.587000 78 104 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) 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) agcagcagcaacagcagcagc 0.602000 3 42 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515335 102515335 + RNA SNP C C G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr15:102515335C>G ENST00000557932.1 + 0 1181 p.L386V(3) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GGAGCGAAAGCTGGAGAAGAA 0.652000 5 20 0 0 1 0 0 C20orf85 128602 broad.mit.edu 37 20 56726068 56726068 + Silent SNP T T G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr20:56726068T>G ENST00000371168.3 + 1 109 c.48T>G c.(46-48)ctT>ctG p.L16L NM_178456.2 NP_848551.1 Q9H1P6 CT085_HUMAN chromosome 20 open reading frame 85 16 kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) GCATGAACCTTGTGGGTCAGG 0.637000 7 5 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 62055221 62055221 + Missense_Mutation SNP C C A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr16:62055221C>A ENST00000577390.1 - 2 1041 c.87G>T c.(85-87)atG>atT p.M29I CDH8_ENST00000577730.1_Missense_Mutation_p.M29I|CDH8_ENST00000584337.1_Missense_Mutation_p.M29I|CDH8_ENST00000299345.6_Missense_Mutation_p.M29I NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 29 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TCATCGGAGCCATGTAAATGC 0.448000 7 62 0.000442599 0.000474214 1 1 0 PCDHGA1 0 broad.mit.edu 37 5 140711225 140711225 + Missense_Mutation SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr5:140711225C>T ENST00000517417.1 + 1 974 c.974C>T c.(973-975)gCg>gTg p.A325V PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A325V NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGATGGTGCGGGGCTCATG 0.398000 20 44 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150471026 150471026 + Silent SNP A A G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:150471026A>G ENST00000369064.3 + 11 1321 c.1287A>G c.(1285-1287)cgA>cgG p.R429R TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Silent_p.R299R|TARS2_ENST00000606933.1_Silent_p.R347R NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 429 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TGCCCCTGCGACTAGCTGACT 0.647000 5 84 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145567943 145567943 + Missense_Mutation SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr4:145567943G>A ENST00000296575.3 + 1 771 c.116G>A c.(115-117)tGc>tAc p.C39Y HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 39 Arg-rich. cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding p.C39Y(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) AGGAGAAGGTGCCTGAATGGG 0.577000 4 59 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228776 204228776 + Missense_Mutation SNP T T C TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:204228776T>C ENST00000272203.3 - 8 933 c.617A>G c.(616-618)aAg>aGg p.K206R PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 206 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CCCTCGAGTCTTGGCCTCTGG 0.612000 42 43 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48801155 48801155 + Missense_Mutation SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr8:48801155C>T ENST00000314191.2 - 35 4390 c.4334G>A c.(4333-4335)aGc>aAc p.S1445N PRKDC_ENST00000338368.3_Missense_Mutation_p.S1445N|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1446 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGCCAGCCTGCTCCTGTCCAC 0.473000 Non-homologous end-joining 5 5 0 0 1 0 0 IFT43 112752 broad.mit.edu 37 14 76543017 76543017 + Missense_Mutation SNP C C A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr14:76543017C>A ENST00000238628.6 + 4 298 c.293C>A c.(292-294)gCt>gAt p.A98D IFT43_ENST00000314067.6_Intron NM_052873.2 NP_443105.2 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 97 cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 TTGGGGCTGGCTTCATTGGAA 0.463000 3 46 1 1 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 5 110 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44142400 44142400 + Missense_Mutation SNP C C A rs145814117 byFrequency TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr12:44142400C>A ENST00000416848.2 - 3 1411 c.923G>T c.(922-924)cGa>cTa p.R308L PUS7L_ENST00000551923.1_Missense_Mutation_p.R308L|PUS7L_ENST00000431332.3_5'UTR|PUS7L_ENST00000344862.5_Missense_Mutation_p.R308L|PUS7L_ENST00000553166.1_Missense_Mutation_p.R308L NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 308 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) GTTTTCCTTTCGTAGGGTAAA 0.318000 3 34 0.00909568 0.00940932 1 1 0 PCDHGC3 0 broad.mit.edu 37 5 140856728 140856728 + Missense_Mutation SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr5:140856728G>A ENST00000308177.3 + 1 1149 c.1045G>A c.(1045-1047)Gcc>Acc p.A349T PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATGACAACGCCCCGGAGAT 0.552000 28 32 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 2 10 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40958242 40958242 + Silent SNP T T C TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr5:40958242T>C ENST00000313164.9 + 11 1727 c.1368T>C c.(1366-1368)caT>caC p.H456H NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 456 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) ACCCCTGTCATTGCCGGCCTT 0.473000 4 76 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16348168 16348168 + Missense_Mutation SNP C C A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr20:16348168C>A ENST00000408042.1 - 23 3959 c.3802G>T c.(3802-3804)Gtc>Ttc p.V1268F KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000354981.2_Intron NM_001199866.1 NP_001186795.1 Q96L93 KI16B_HUMAN kinesin family member 16B 0 PX. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TTCAGAAGGACTAGCGACTGG 0.483000 22 36 2.89027e-11 3.46832e-11 1 1 0 PLXNB2 23654 broad.mit.edu 37 22 50716552 50716552 + Silent SNP T T C TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr22:50716552T>C ENST00000449103.1 - 31 5021 c.4881A>G c.(4879-4881)tcA>tcG p.S1627S PLXNB2_ENST00000359337.4_Silent_p.S1627S O15031 PLXB2_HUMAN plexin B2 1627 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCACCTTGACTGAGAGCAGCC 0.682000 4 43 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 73 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32911291 32911291 + Silent SNP A A T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr13:32911291A>T ENST00000544455.1 + 11 3026 c.2799A>T c.(2797-2799)acA>acT p.T933T BRCA2_ENST00000380152.3_Silent_p.T933T NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 933 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) ATGGAGACACAGGTGATAAAC 0.343000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 23 39 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9484733 9484733 + Missense_Mutation SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr2:9484733C>T ENST00000281419.3 + 10 1262 c.922C>T c.(922-924)Cgg>Tgg p.R308W ASAP2_ENST00000315273.4_Missense_Mutation_p.R308W NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 308 PH. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding p.R308W(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TGGGACCGAGCGGAACGGCAG 0.458000 4 79 0 0 1 0 0 TMEM255A 55026 broad.mit.edu 37 X 119419025 119419025 + Missense_Mutation SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chrX:119419025G>A ENST00000371369.4 - 6 695 c.469C>T c.(469-471)Cgg>Tgg p.R157W TMEM255A_ENST00000309720.5_Missense_Mutation_p.R181W|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.R17W NM_001104544.1 NP_001098014.1 transmembrane protein 255A GTGTTGCCCCGGATGCGAGGT 0.527000 100 52 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947227 237947227 + Missense_Mutation SNP C C A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:237947227C>A ENST00000366574.2 + 90 12532 c.12215C>A c.(12214-12216)aCg>aAg p.T4072K RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K|RYR2_ENST00000360064.6_Missense_Mutation_p.T4078K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4072 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTGCGGAGACGGATGAGAAT 0.512000 5 12 0.000602214 0.00063391 1 1 0 GJB5 2709 broad.mit.edu 37 1 35223743 35223743 + Missense_Mutation SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:35223743C>T ENST00000338513.1 + 2 985 c.812C>T c.(811-813)aCc>aTc p.T271I NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 271 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) GTGAAGAAAACCATCTTGTGA 0.567000 19 21 0 0 1 0 0 EARS2 124454 broad.mit.edu 37 16 23555840 23555840 + Silent SNP C C G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr16:23555840C>G ENST00000449606.1 - 3 511 c.480G>C c.(478-480)acG>acC p.T160T EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000563232.1_Silent_p.T160T|EARS2_ENST00000563459.1_Silent_p.T160T NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 160 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding p.T160T(1) central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) CTTACCGGGGCGTCTGGTGGT 0.542000 5 22 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50905313 50905313 + Missense_Mutation SNP G G A rs141976385 TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr19:50905313G>A ENST00000440232.2 + 5 574 c.521G>A c.(520-522)cGg>cAg p.R174Q POLD1_ENST00000599857.1_Missense_Mutation_p.R174Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R174Q NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 174 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GCCATCAGCCGGGACAGTCGC 0.667000 DNA polymerases (catalytic subunits) 3 99 0 0 1 0 0 P2RY10 0 broad.mit.edu 37 X 78216116 78216116 + Missense_Mutation SNP A A T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chrX:78216116A>T ENST00000171757.2 + 4 379 c.99A>T c.(97-99)caA>caT p.Q33H P2RY10_ENST00000544091.1_Missense_Mutation_p.Q33H|P2RY10_ENST00000475374.1_3'UTR NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 33 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 TGAAATTTCAATACTCCCTCT 0.428000 8 61 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 34 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17142211 17142211 + Missense_Mutation SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr10:17142211G>A ENST00000377833.4 - 14 1623 c.1558C>T c.(1558-1560)Cgg>Tgg p.R520W NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 520 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GATTCTAACCGGAAAAAAGTG 0.383000 12 35 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754732 54754732 + Missense_Mutation SNP C C A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr19:54754732C>A ENST00000316219.5 - 13 1798 c.1691G>T c.(1690-1692)cGg>cTg p.R564L LILRB5_ENST00000345866.6_Missense_Mutation_p.R465L|LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000449561.2_Missense_Mutation_p.R565L NM_001081442.1|NM_006840.3 NP_001074911.1|NP_006831.1 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 564 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGTTGCCTCCCGTCTGAGGGT 0.627000 13 54 9.16793e-09 1.05784e-08 1 1 0 WDR26 80232 broad.mit.edu 37 1 224621758 224621760 + In_Frame_Del DEL CCG CCG - TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:224621758_224621760delCCG ENST00000414423.2 - 1 241_243 c.48_50delCGG c.(46-51)ggt>gg p.GG24del WDR26_ENST00000366852.2_In_Frame_Del_p.GG24del|WDR26_ENST00000295024.6_5'UTR NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 24 cytoplasm|nucleus biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) tcctcctccaccgccgccgccgc 0.729 2 4 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635545 96635547 + In_Frame_Del DEL CAC CAC - TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr7:96635545_96635547delCAC ENST00000518156.2 + 1 686_688 c.256_258delCAC c.(256-258)del p.H91del DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_In_Frame_Del_p.H63del P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GGCCGGCTCGcaccaccaccacc 0.729 3 6 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 7 4 --- --- --- --- RP11-314A20.2 0 broad.mit.edu 37 17 4608074 4608075 + RNA DEL GT GT - TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr17:4608074_4608075delGT ENST00000497885.1 + 0 141 NR_103482.1 AATCAGTAACGTGTGTGTGTGT 0.515 2 4 --- --- --- --- PHOSPHO1 0 broad.mit.edu 37 17 47302390 47302392 + In_Frame_Del DEL AGG AGG - TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr17:47302390_47302392delAGG ENST00000413580.1 - 3 512_514 c.95_97delCCT c.(94-99)tgc>t p.SC32del PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del|PHOSPHO1_ENST00000310544.4_Intron NM_001143804.1|NM_178500.3 NP_001137276.1|NP_848595.1 Q8TCT1 PHOP1_HUMAN phosphatase, orphan 1 0 regulation of bone mineralization metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) Choline(DB00122) ggagagcagcaggaggaggagga 0.700 3 4 --- --- --- --- GATA6 2627 broad.mit.edu 37 18 19752073 19752075 + In_Frame_Del DEL ACC ACC - TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr18:19752073_19752075delACC ENST00000269216.3 + 2 1245_1247 c.968_970delACC c.(967-972)tac>t p.YH323del GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 323 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) AACGGGACGTaccaccaccacca 0.749 2 4 --- --- --- --- CLASRP 11129 broad.mit.edu 37 19 45567607 45567609 + In_Frame_Del DEL CTC CTC - TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr19:45567607_45567609delCTC ENST00000544944.2 + 12 1820_1822 c.1128_1130delCTC c.(1126-1131)cgc>cg p.RS376del CLASRP_ENST00000221455.3_In_Frame_Del_p.RS376del|CLASRP_ENST00000391953.4_In_Frame_Del_p.RS314del Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 376 Arg-rich. mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 GCAGCCGCCGctcctcctcctcc 0.744 2 4 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898666 42898666 + RNA DEL C C - TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr22:42898666delC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCATATGGTGCCCCCCCCCCA 0.592 4 8 --- --- --- ---