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 MED16 10025 broad.mit.edu 37 19 879947 879947 + Missense_Mutation SNP C C T rs139117438 by1000genomes TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr19:879947C>T ENST00000312090.6 - 8 1493 c.1343G>A c.(1342-1344)aGc>aAc p.S448N MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.S448N|MED16_ENST00000325464.1_Missense_Mutation_p.S448N|MED16_ENST00000269814.4_Missense_Mutation_p.S448N|MED16_ENST00000589119.1_Missense_Mutation_p.S448N Q9Y2X0 MED16_HUMAN mediator complex subunit 16 448 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding p.S448N(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTCCCGTGGCTGTCAATCCC 0.667000 3 26 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60698058 60698058 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr11:60698058C>T ENST00000005286.4 + 5 1096 c.943C>T c.(943-945)Cgc>Tgc p.R315C TMEM132A_ENST00000453848.2_Missense_Mutation_p.R315C NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 315 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CAAGCTGGACCGCTTCAAGGG 0.637000 78 93 0 0 1 0 0 ZNF644 84146 broad.mit.edu 37 1 91406264 91406264 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:91406264C>T ENST00000370440.1 - 3 864 c.647G>A c.(646-648)gGc>gAc p.G216D ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G216D Q9H582 ZN644_HUMAN zinc finger protein 644 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TATTAAAGTGCCATCTGACTT 0.388000 4 140 0 0 1 0 0 SYTL1 84958 broad.mit.edu 37 1 27674019 27674019 + Missense_Mutation SNP A A T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:27674019A>T ENST00000543823.1 + 2 761 c.299A>T c.(298-300)gAc>gTc p.D100V SYTL1_ENST00000318074.5_Missense_Mutation_p.D100V Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 100 exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TTCGGCTCTGACCTTGTCCGA 0.642000 5 70 0 0 1 0 0 CDKAL1 54901 broad.mit.edu 37 6 20846359 20846359 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr6:20846359C>T ENST00000274695.4 + 9 859 c.692C>T c.(691-693)gCc>gTc p.A231V CDKAL1_ENST00000378624.4_Missense_Mutation_p.A161V|CDKAL1_ENST00000378610.1_Missense_Mutation_p.A231V NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 231 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) GGAAATTTGGCCAGTTATCCA 0.318000 3 39 0 0 1 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978112 45978112 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr21:45978112G>A ENST00000391620.1 - 1 531 c.487C>T c.(487-489)Cgc>Tgc p.R163C TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198696.2 NP_941969.2 P60369 KR103_HUMAN keratin associated protein 10-3 163 18 X 5 AA repeats of C-C-X(3). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 CACACGGGGCGGCAGAGGAGG 0.697000 22 193 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616334 248616334 + Missense_Mutation SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:248616334T>C ENST00000342927.3 + 1 258 c.236T>C c.(235-237)gTc>gCc p.V79A NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTATCACTGTCCCCAAGATG 0.522000 8 187 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14107261 14107261 + Missense_Mutation SNP C C G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:14107261C>G ENST00000235372.7 + 8 3827 c.2971C>G c.(2971-2973)Cct>Gct p.P991A PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P991A|PRDM2_ENST00000413440.1_Missense_Mutation_p.P790A|PRDM2_ENST00000343137.4_Missense_Mutation_p.P790A|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 991 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TCCCCTCCTTCCTACCGTACC 0.602000 8 114 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19745858 19745858 + Silent SNP T T G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr19:19745858T>G ENST00000203556.4 - 16 1862 c.1725A>C c.(1723-1725)atA>atC p.I575I GMIP_ENST00000587238.1_Silent_p.I549I|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Silent_p.I546I NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 575 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CACGGTGTTCTATCTCAGCCG 0.582000 58 76 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612750 179612750 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr2:179612750C>T ENST00000360870.5 - 46 14599 c.14377G>A c.(14377-14379)Gca>Aca p.A4793T TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 902 Ig-like 28. 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) TTTGGAAATGCTGCCAACTCT 0.458000 3 29 0 0 1 0 0 MCM5 4174 broad.mit.edu 37 22 35811941 35811941 + Silent SNP C C T rs143122195 TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr22:35811941C>T ENST00000216122.4 + 10 1477 c.1323C>T c.(1321-1323)gtC>gtT p.V441V MCM5_ENST00000382011.5_Silent_p.V398V|MCM5_ENST00000465557.1_3'UTR NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 441 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 ATGGTGGGGTCGTCTGTATTG 0.587000 7 349 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27372137 27372137 + Splice_Site SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr16:27372137G>A ENST00000395762.2 + 10 1158 c.e10+1 IL4R_ENST00000543915.2_Splice_Site|IL4R_ENST00000565915.1_Splice_Site|IL4R_ENST00000170630.2_Splice_Site|IL4R_ENST00000380922.3_Splice_Site NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CCAAGTGCCCGTATGTATCTG 0.547000 5 148 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106109197 106109197 + Missense_Mutation SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chrX:106109197A>G ENST00000357242.5 + 16 2770 c.2596A>G c.(2596-2598)Aca>Gca p.T866A TBC1D8B_ENST00000276175.3_Missense_Mutation_p.T860A NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 866 EF-hand. intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AGCTTTATGGACATTCAGATT 0.368000 4 87 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121206245 121206245 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr3:121206245G>A ENST00000264233.5 - 16 5661 c.5533C>T c.(5533-5535)Cgg>Tgg p.R1845W NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1845 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TTTTTGCACCGCCACTCCTTA 0.383000 DNA polymerases (catalytic subunits) 4 47 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46124545 46124545 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr19:46124545C>T ENST00000536630.1 - 14 1621 c.1483G>A c.(1483-1485)Gga>Aga p.G495R EML2_ENST00000245925.3_Missense_Mutation_p.G348R|EML2_ENST00000589876.1_Missense_Mutation_p.G348R|EML2_ENST00000587152.1_Missense_Mutation_p.G549R NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 348 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) AGTGTGTCTCCGTGGCCCTCT 0.627000 35 63 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88769304 88769304 + RNA SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr10:88769304G>A ENST00000444431.1 + 0 3904 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CGGTGGATCCGTTCCAAATAT 0.582000 8 162 0 0 1 0 0 SEPT11 55752 broad.mit.edu 37 4 77941664 77941664 + Missense_Mutation SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr4:77941664A>G ENST00000264893.6 + 7 995 c.794A>G c.(793-795)gAa>gGa p.E265G SEPT11_ENST00000510515.1_Missense_Mutation_p.E275G|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000505788.1_Missense_Mutation_p.E265G|SEPT11_ENST00000502584.1_Missense_Mutation_p.E265G|SEPT11_ENST00000541121.1_Missense_Mutation_p.E275G NM_018243.2 NP_060713.1 Q9NVA2 SEP11_HUMAN septin 11 265 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 11 GTTGAGAATGAAAATCATTGC 0.453000 8 75 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222801580 222801580 + Missense_Mutation SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:222801580A>G ENST00000344922.5 + 4 1043 c.1018A>G c.(1018-1020)Aaa>Gaa p.K340E MIA3_ENST00000344441.6_Missense_Mutation_p.K340E|MIA3_ENST00000344507.1_Missense_Mutation_p.K340E|MIA3_ENST00000470521.1_3'UTR NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 340 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GGAAGATATGAAAACTCCAGC 0.413000 33 41 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27190616 27190616 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr9:27190616G>A ENST00000380036.4 + 10 1859 c.1417G>A c.(1417-1419)Gat>Aat p.D473N TEK_ENST00000519097.1_Missense_Mutation_p.D326N|TEK_ENST00000406359.4_Missense_Mutation_p.D430N NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 473 Fibronectin type-III 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TTACTTTGGGGATGGACCAAT 0.433000 5 119 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117245848 117245848 + Silent SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr6:117245848T>C ENST00000332958.2 + 15 1588 c.1572T>C c.(1570-1572)atT>atC p.I524I NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 524 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TTCATTTGATTCGAATGCTTC 0.388000 5 70 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62800561 62800561 + Missense_Mutation SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr4:62800561A>G ENST00000512091.1 + 13 2659 c.1912A>G c.(1912-1914)Atg>Gtg p.M638V LPHN3_ENST00000509896.1_Missense_Mutation_p.M706V|LPHN3_ENST00000506700.1_Missense_Mutation_p.M638V|LPHN3_ENST00000514157.1_Missense_Mutation_p.M638V|LPHN3_ENST00000506746.1_Missense_Mutation_p.M706V|LPHN3_ENST00000511324.1_Missense_Mutation_p.M706V|LPHN3_ENST00000514591.1_Missense_Mutation_p.M638V|LPHN3_ENST00000514996.1_Missense_Mutation_p.M638V|LPHN3_ENST00000506720.1_Missense_Mutation_p.M706V|LPHN3_ENST00000504896.1_Missense_Mutation_p.M638V|LPHN3_ENST00000508693.1_Missense_Mutation_p.M706V|LPHN3_ENST00000508946.1_Missense_Mutation_p.M638V|LPHN3_ENST00000507164.1_Missense_Mutation_p.M706V|LPHN3_ENST00000545650.1_Missense_Mutation_p.M638V|LPHN3_ENST00000507625.1_Missense_Mutation_p.M706V|LPHN3_ENST00000508078.1_3'UTR Q9HAR2 LPHN3_HUMAN latrophilin 3 625 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CTTGTAGGCAATGGTCGAGAC 0.493000 3 24 0 0 1 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68930540 68930540 + Missense_Mutation SNP T T C rs145412545 TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr4:68930540T>C ENST00000356291.2 - 8 937 c.878A>G c.(877-879)gAc>gGc p.D293G RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 293 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 CAAAGCAATGTCATTTTCATT 0.378000 5 28 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7982600 7982600 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr12:7982600C>T ENST00000543909.1 - 10 1103 c.344G>A c.(343-345)cGc>cAc p.R115H SLC2A14_ENST00000535295.1_Missense_Mutation_p.R6H|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R6H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R92H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R92H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R115H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R130H Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 115 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity p.R115H(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) CATTGAATTGCGCCTGTAAGG 0.458000 11 38 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32088575 32088575 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr6:32088575G>A ENST00000375201.4 - 8 841 c.796C>T c.(796-798)Ctg>Ttg p.L266L ATF6B_ENST00000375203.3_Silent_p.L269L Q99941 ATF6B_HUMAN activating transcription factor 6 beta 269 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 AGGGACTGCAGAAGGACTGTG 0.627000 6 215 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11485796 11485796 + Missense_Mutation SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr7:11485796T>C ENST00000423059.3 - 13 3207 c.2956A>G c.(2956-2958)Aaa>Gaa p.K986E AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 986 TSP type-1 10. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CCTTGTACTTTCATTCCCAGC 0.433000 HNSCC(18;0.044) 19 121 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22913059 22913059 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:22913059G>A ENST00000166244.3 + 4 982 c.910G>A c.(910-912)Gcc>Acc p.A304T EPHA8_ENST00000374644.4_Missense_Mutation_p.A304T|EPHA8_ENST00000538803.1_Missense_Mutation_p.A304T NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 304 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity p.A304T(2) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGCTCCAGCCGCCCAAGCCTG 0.657000 9 66 0 0 1 0 0 CCDC116 164592 broad.mit.edu 37 22 21988388 21988388 + Silent SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr22:21988388C>T ENST00000292779.3 + 3 311 c.150C>T c.(148-150)tcC>tcT p.S50S NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 50 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) ACCCACCATCCACATGTGGCA 0.607000 11 150 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73812349 73812349 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chrX:73812349G>A ENST00000332687.6 - 4 1019 c.801C>T c.(799-801)caC>caT p.H267H RLIM_ENST00000349225.2_Silent_p.H267H NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 267 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATGTCACATGGTGCCGGGTTC 0.438000 7 106 0 0 1 0 0 ZMYND12 84217 broad.mit.edu 37 1 42915623 42915623 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:42915623C>T ENST00000372565.3 - 2 487 c.218G>A c.(217-219)cGg>cAg p.R73Q ZMYND12_ENST00000433602.2_Silent_p.T20T NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 73 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCATGCTGCCGTTCTTCCTC 0.547000 4 61 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515435 195515435 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr3:195515435C>T ENST00000463781.3 - 2 3475 c.3016G>A c.(3016-3018)Gcc>Acc p.A1006T MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1008 Repeat.|Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A1006T(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGAGGGGTGGCGTGACCTGTG 0.582000 3 7 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30694848 30694848 + Silent SNP T T G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr8:30694848T>G ENST00000256246.2 - 3 7877 c.7803A>C c.(7801-7803)atA>atC p.I2601I NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2601 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CATTAAGGGTTATATGCCCAG 0.383000 25 37 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63995539 63995539 + Missense_Mutation SNP G G T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr6:63995539G>T ENST00000370658.5 - 3 316 c.283C>A c.(283-285)Ctc>Atc p.L95I LGSN_ENST00000370657.4_Missense_Mutation_p.L95I NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 95 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) ACGCCGTGGAGGTCTGTTGCT 0.418000 15 24 9.16793e-09 9.46607e-09 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 13 19 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21306934 21306934 + Missense_Mutation SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:21306934T>C ENST00000602326.1 - 8 822 c.239A>G c.(238-240)cAt>cGt p.H80R EIF4G3_ENST00000400422.1_Missense_Mutation_p.H73R|EIF4G3_ENST00000374927.4_Missense_Mutation_p.H73R|EIF4G3_ENST00000264211.8_Missense_Mutation_p.H73R|EIF4G3_ENST00000374935.3_Missense_Mutation_p.H73R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.H80R|EIF4G3_ENST00000356916.3_Missense_Mutation_p.H84R NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 73 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) AGGGCCACTATGACGGTACTA 0.423000 4 14 0 0 1 0 0 PMEL 6490 broad.mit.edu 37 12 56348103 56348103 + Silent SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr12:56348103T>C ENST00000548747.1 - 11 2543 c.1881A>G c.(1879-1881)gtA>gtG p.V627V PMEL_ENST00000552882.1_Silent_p.V627V|PMEL_ENST00000550464.1_Silent_p.V541V|PMEL_ENST00000548493.1_Silent_p.V627V|PMEL_ENST00000550447.1_Silent_p.V256V|PMEL_ENST00000539511.1_Silent_p.V541V|PMEL_ENST00000360714.4_Silent_p.V634V|PMEL_ENST00000449260.2_Silent_p.V634V|PMEL_ENST00000536427.1_Silent_p.V592V P40967 PMEL_HUMAN premelanosome protein 627 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCAACTGGGGTACGGAGAAGT 0.532000 27 57 0 0 1 0 0 TMEM110 375346 broad.mit.edu 37 3 52877766 52877766 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr3:52877766C>T ENST00000355083.5 - 6 734 c.589G>A c.(589-591)Gtc>Atc p.V197I TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V197I NM_198563.2 NP_940965.1 transmembrane protein 110 kidney(1)|large_intestine(1)|lung(2) 4 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) ATCAGCATGACGATGGCCAGC 0.517000 9 114 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22159014 22159014 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:22159014G>A ENST00000374695.3 - 81 11260 c.11181C>T c.(11179-11181)ggC>ggT p.G3727G NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3727 Laminin G-like 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCCCCACGAGGCCGAAGGAGA 0.662000 46 33 0 0 1 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768649 31768649 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr21:31768649G>A ENST00000355459.2 + 1 258 c.245G>A c.(244-246)cGt>cAt p.R82H NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 82 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCCTGCTACCGTCCCAGAACC 0.607000 13 114 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 6 154 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80382767 80382767 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr5:80382767G>A ENST00000265080.4 + 9 1452 c.1385G>A c.(1384-1386)cGc>cAc p.R462H RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 462 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ACGTTCATCCGCCAAGGTAAG 0.547000 34 51 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72967828 72967828 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr8:72967828G>A ENST00000262209.4 - 12 1579 c.1372C>T c.(1372-1374)Cgt>Tgt p.R458C RP11-383H13.1_ENST00000457356.4_3'UTR NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 458 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GTATTGATACGCCCATAACTT 0.413000 20 24 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90833188 90833188 + Silent SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr4:90833188A>G ENST00000394980.1 + 4 1156 c.837A>G c.(835-837)aaA>aaG p.K279K MMRN1_ENST00000394981.1_Silent_p.K245K|MMRN1_ENST00000508372.1_Silent_p.K21K|MMRN1_ENST00000264790.2_Silent_p.K279K Q13201 MMRN1_HUMAN multimerin 1 279 EMI. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GTGGGCCGAAATGTCAACTAA 0.368000 13 10 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3670829 3670829 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr20:3670829G>A ENST00000344754.4 - 18 4673 c.4674C>T c.(4672-4674)agC>agT p.S1558S SIGLEC1_ENST00000202578.4_Silent_p.S1558S NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1558 Ig-like C2-type 16. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CGAGCGGCTCGCTGTCCACTC 0.652000 4 6 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179395863 179395863 + Missense_Mutation SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr2:179395863A>G ENST00000589042.1 - 358 105703 c.105479T>C c.(105478-105480)gTg>gCg p.V35160A TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V26220A|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V32592A|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V26287A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V26095A|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V33519A|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33519 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) CAGCCAGGTCACAGTTGGTAC 0.512000 89 132 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45645432 45645432 + Missense_Mutation SNP T T G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr14:45645432T>G ENST00000267430.5 + 14 3560 c.3475T>G c.(3475-3477)Tta>Gta p.L1159V FANCM_ENST00000542564.2_Missense_Mutation_p.L1133V NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1159 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AAGCGAATCTTTACCTGTGTC 0.373000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 106 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38954585 38954585 + Nonsense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr17:38954585G>A ENST00000306658.7 - 3 657 c.592C>T c.(592-594)Cga>Tga p.R198* NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 198 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) TCCAGGACTCGCCGTAATCCG 0.498000 9 70 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 95013576 95013576 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr15:95013576C>T ENST00000357742.4 + 20 2375 c.2375C>T c.(2374-2376)aCg>aTg p.T792M MCTP2_ENST00000451018.3_Missense_Mutation_p.T737M NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 792 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTTAACTGGACGGTCCCCTTC 0.403000 41 45 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110804777 110804777 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr13:110804777G>A ENST00000375820.4 - 51 4953 c.4832C>T c.(4831-4833)gCg>gTg p.A1611V NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1611 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GATGAATGGCGCACTTCTAAA 0.582000 8 19 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79792136 79792136 + Silent SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr4:79792136A>G ENST00000335016.5 + 11 1597 c.1431A>G c.(1429-1431)caA>caG p.Q477Q BMP2K_ENST00000502871.1_Silent_p.Q477Q NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 477 Gln/His-rich. Missing (in Ref. 2; CAB70863). nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 agcaacagcaacagcagcagc 0.507000 5 62 0 0 1 0 0 RSPRY1 89970 broad.mit.edu 37 16 57238805 57238805 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr16:57238805G>A ENST00000537866.1 + 2 1108 c.235G>A c.(235-237)Gac>Aac p.D79N RSPRY1_ENST00000394420.4_Missense_Mutation_p.D79N Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 79 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 CCAACCACGGGACCCTGTTCG 0.552000 5 99 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32362767 32362767 + Nonsense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr6:32362767G>A ENST00000454136.3 - 6 1118 c.1114C>T c.(1114-1116)Caa>Taa p.Q372* BTNL2_ENST00000374995.3_Nonsense_Mutation_p.Q278*|BTNL2_ENST00000540315.1_Nonsense_Mutation_p.Q162*|BTNL2_ENST00000374993.1_Nonsense_Mutation_p.Q372*|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000414363.1_Nonsense_Mutation_p.Q162*|BTNL2_ENST00000544175.1_Nonsense_Mutation_p.Q95* Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 372 integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 CCATCTTCTTGCCCCTCCACA 0.547000 23 151 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49656971 49656971 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr19:49656971G>A ENST00000252825.4 - 1 1710 c.1524C>T c.(1522-1524)ggC>ggT p.G508G HRC_ENST00000595625.1_Silent_p.G508G NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 508 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CATGATGGGTGCCTTTCTCTC 0.552000 12 36 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39383207 39383207 + Missense_Mutation SNP T T G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr5:39383207T>G ENST00000320816.6 - 10 1321 c.854A>C c.(853-855)aAc>aCc p.N285T DAB2_ENST00000545653.1_Missense_Mutation_p.N264T|DAB2_ENST00000509337.1_Missense_Mutation_p.N264T|DAB2_ENST00000339788.6_Intron NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 285 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GGGAAAGAAGTTGAGATTGGC 0.468000 6 110 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33626884 33626884 + Silent SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr6:33626884C>T ENST00000374316.5 + 7 1675 c.615C>T c.(613-615)gcC>gcT p.A205A ITPR3_ENST00000605930.1_Silent_p.A205A Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 205 MIR 2. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GCGACAACGCCGGCTGCAAGG 0.632000 55 63 0 0 1 0 0 AHCYL1 10768 broad.mit.edu 37 1 110551714 110551714 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:110551714G>A ENST00000369799.5 + 2 546 c.179G>A c.(178-180)cGa>cAa p.R60Q AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.R13Q|AHCYL1_ENST00000359172.3_Missense_Mutation_p.R13Q NM_001242673.1|NM_001242674.1|NM_006621.5 NP_001229602.1|NP_001229603.1|NP_006612.2 O43865 SAHH2_HUMAN adenosylhomocysteinase-like 1 60 one-carbon metabolic process endoplasmic reticulum adenosylhomocysteinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2) 18 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143) AAAACTGGCCGAAGATCTTTG 0.433000 24 57 0 0 1 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117612 46117612 + Missense_Mutation SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr21:46117612T>C ENST00000400365.3 + 1 526 c.496T>C c.(496-498)Tgc>Cgc p.C166R TSPEAR_ENST00000323084.4_Intron NM_198699.1 NP_941972.1 P60413 KR10C_HUMAN keratin associated protein 10-12 166 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(8) 9 TGTGCCTGTCTGCTCTGGGGC 0.637000 156 220 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39553720 39553720 + Silent SNP G G C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr17:39553720G>C ENST00000251645.2 - 1 124 c.72C>G c.(70-72)ccC>ccG p.P24P NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 24 Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) TGTGGCAGCTGGGGGGCACGC 0.662000 32 47 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 7 58 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156916463 156916463 + Silent SNP G G C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:156916463G>C ENST00000368194.3 - 28 3724 c.2685C>G c.(2683-2685)ctC>ctG p.L895L ARHGEF11_ENST00000361409.2_Silent_p.L855L|ARHGEF11_ENST00000315174.8_Silent_p.L271L NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 855 DH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTGCATGAAGAGCTGGAATC 0.522000 4 210 0 0 1 0 0 RELA 5970 broad.mit.edu 37 11 65429217 65429217 + Silent SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr11:65429217T>C ENST00000525693.1 - 4 338 c.276A>G c.(274-276)ggA>ggG p.G92G RELA_ENST00000308639.9_Silent_p.G92G|RELA_ENST00000406246.3_Silent_p.G92G Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 92 RHD. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 GGCAGTCCTTTCCTACAAGCT 0.617000 14 78 0 0 1 0 0 C11orf35 256329 broad.mit.edu 37 11 557018 557018 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr11:557018C>T ENST00000329451.3 - 8 855 c.793G>A c.(793-795)Gtg>Atg p.V265M NM_173573.2 NP_775844.2 Q8IXW0 CK035_HUMAN chromosome 11 open reading frame 35 265 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCCACTCCACGGTCTTGTGA 0.672000 9 4 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13764768 13764768 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr12:13764768G>A ENST00000279593.3 - 8 1880 c.1671C>T c.(1669-1671)gaC>gaT p.D557D NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 557 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCACCCATACGTCAGCGCTGA 0.448000 4 128 0 0 1 0 0 KLHL28 54813 broad.mit.edu 37 14 45403686 45403686 + Silent SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr14:45403686T>C ENST00000396128.4 - 3 1094 c.975A>G c.(973-975)ggA>ggG p.G325G KLHL28_ENST00000355081.2_Silent_p.G339G NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 325 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AAACGCATATTCCAAATTCAT 0.373000 4 50 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10123119 10123119 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr3:10123119G>A ENST00000287647.3 + 32 3288 c.3195G>A c.(3193-3195)ctG>ctA p.L1065L FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000383806.1_Silent_p.L1065L|FANCD2_ENST00000383807.1_Silent_p.L1065L|FANCD2OS_ENST00000524279.1_3'UTR|FANCD2_ENST00000419585.1_Silent_p.L1065L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1065 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) ATCAGAGGCTGCTGCAGATTT 0.418000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 153 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578191 7578191 + Missense_Mutation SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr17:7578191A>G ENST00000420246.2 - 6 790 c.658T>C c.(658-660)Tat>Cat p.Y220H TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220H|TP53_ENST00000269305.4_Missense_Mutation_p.Y220H|TP53_ENST00000413465.2_Missense_Mutation_p.Y220H|TP53_ENST00000445888.2_Missense_Mutation_p.Y220H|TP53_ENST00000359597.4_Missense_Mutation_p.Y220H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220N(12)|p.?(11)|p.Y220H(8)|p.0?(8)|p.Y220D(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCGGCTCATAGGGCACCACC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 27 0 0 1 0 0 MAPK1 5594 broad.mit.edu 37 22 22142614 22142614 + Missense_Mutation SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr22:22142614T>C ENST00000215832.6 - 6 976 c.788A>G c.(787-789)tAt>tGt p.Y263C MAPK1_ENST00000398822.3_Missense_Mutation_p.Y263C|MAPK1_ENST00000544786.1_Intron NM_002745.4 NP_002736.3 P28482 MK01_HUMAN mitogen-activated protein kinase 1 263 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) AGAAAGCAAATAGTTCCTAGC 0.338000 30 37 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101971660 101971660 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr15:101971660G>A ENST00000348070.1 - 5 518 c.519C>T c.(517-519)ggC>ggT p.G173G PCSK6_ENST00000398181.2_Silent_p.G173G|PCSK6_ENST00000331826.7_Silent_p.G8G|PCSK6_ENST00000358417.3_Silent_p.G173G|PCSK6_ENST00000344273.2_Silent_p.G173G|PCSK6_ENST00000561177.1_5'UTR NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 174 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGTTCTTGTCGCCACAATGCT 0.552000 6 27 0 0 1 0 0 NANOS3 342977 broad.mit.edu 37 19 13988120 13988120 + Missense_Mutation SNP C C G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr19:13988120C>G ENST00000397555.2 + 1 58 c.58C>G c.(58-60)Ctg>Gtg p.L20V NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000591161.1_Intron|NANOS3_ENST00000339133.5_Missense_Mutation_p.L20V NM_001098622.2 NP_001092092.1 P60323 NANO3_HUMAN nanos homolog 3 (Drosophila) 20 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGTTAGGGCTCTGAGTGGGAA 0.617000 4 267 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56330861 56330861 + Missense_Mutation SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr12:56330861A>G ENST00000331886.5 + 3 579 c.125A>G c.(124-126)tAt>tGt p.Y42C DGKA_ENST00000551156.1_Missense_Mutation_p.Y42C|DGKA_ENST00000394147.1_Missense_Mutation_p.Y42C NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 42 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) ATGGCTAAATATGTCCAAGGA 0.448000 5 82 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6045580 6045580 + Missense_Mutation SNP T T G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr7:6045580T>G ENST00000265849.7 - 2 211 c.106A>C c.(106-108)Agc>Cgc p.S36R PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.S36R|PMS2_ENST00000382321.4_Missense_Mutation_p.S36R NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 36 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) ACCGCAGTGCTTAGACTCAGT 0.433000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 63 210 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52554824 52554824 + Missense_Mutation SNP G G T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr3:52554824G>T ENST00000321725.6 + 55 5787 c.5711G>T c.(5710-5712)aGc>aTc p.S1904I NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1904 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCCAGGGCAGCCCTGAGGCC 0.652000 19 353 2.4624e-09 2.56331e-09 1 1 0 CYP4A22 284541 broad.mit.edu 37 1 47607808 47607808 + Missense_Mutation SNP G G C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:47607808G>C ENST00000371891.3 + 4 442 c.411G>C c.(409-411)caG>caC p.Q137H CYP4A22_ENST00000371890.3_Missense_Mutation_p.Q137H|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.Q137H|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 137 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGAATGGGCAGACATGGTTCC 0.532000 33 49 0 0 1 0 0 AC097374.2 0 broad.mit.edu 37 2 95552620 95552620 + RNA SNP T T C rs4103845 TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr2:95552620T>C ENST00000568768.1 - 0 476 CTTCTGAACATACAGCCAAAA 0.338000 3 32 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38184352 38184352 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:38184352C>T ENST00000373048.4 - 16 2892 c.2893G>A c.(2893-2895)Gtg>Atg p.V965M EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.V965M|EPHA10_ENST00000330210.7_Missense_Mutation_p.V460M|EPHA10_ENST00000540011.1_3'UTR NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 965 SAM. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ATCTCGGCCACGGCCTCCAGG 0.667000 5 48 0 0 1 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857471 101857471 + Silent SNP T T A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chrX:101857471T>A ENST00000604957.1 + 1 3024 c.402T>A c.(400-402)atT>atA p.I134I ARMCX5_ENST00000246174.2_Silent_p.I134I|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Silent_p.I134I|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000541409.1_Silent_p.I134I|ARMCX5_ENST00000537008.1_Silent_p.I134I|ARMCX5_ENST00000372742.1_Silent_p.I134I NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 134 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 AGGCAAATATTAGGTCCTATG 0.463000 19 236 0 0 1 0 0 LTV1 84946 broad.mit.edu 37 6 144171327 144171327 + Silent SNP A A C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr6:144171327A>C ENST00000367576.5 + 4 503 c.369A>C c.(367-369)ggA>ggC p.G123G NM_032860.3 NP_116249.2 Q96GA3 LTV1_HUMAN LTV1 homolog (S. cerevisiae) 123 breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) AAGATGTTGGATTGTTAAATA 0.313000 4 62 0 0 1 0 0 HCG17 0 broad.mit.edu 37 6 30227442 30227442 + RNA SNP T T G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr6:30227442T>G ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA CTGCTGCTCTTGGGGGCCCTG 0.706000 4 42 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089904 9089904 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr19:9089904G>A ENST00000397910.4 - 1 2114 c.1911C>T c.(1909-1911)tcC>tcT p.S637S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 637 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S637S(2) 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 TCAAATCTGCGGATGTCTCAG 0.582000 5 120 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 18 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113395856 113395856 + Missense_Mutation SNP C C A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr8:113395856C>A ENST00000297405.5 - 37 6215 c.5971G>T c.(5971-5973)Gat>Tat p.D1991Y CSMD3_ENST00000352409.3_Missense_Mutation_p.D1921Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1951Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1887Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1991 CUB 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCCAGAGAATCCCAATTATGT 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 48 0.0167234 0.0168561 1 1 0 CDH6 1004 broad.mit.edu 37 5 31297444 31297444 + Missense_Mutation SNP A A T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr5:31297444A>T ENST00000265071.2 + 4 837 c.572A>T c.(571-573)tAt>tTt p.Y191F CDH6_ENST00000514738.1_Missense_Mutation_p.Y136F NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 191 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GATCCAACATATGGGAACAGT 0.363000 8 66 0 0 1 0 0 NKAP 79576 broad.mit.edu 37 X 119077534 119077534 + Missense_Mutation SNP C C A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chrX:119077534C>A ENST00000371410.3 - 1 201 c.35G>T c.(34-36)aGg>aTg p.R12M NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 12 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 CGAGGCCTCCCTATCCGGGCT 0.706000 3 45 0.115264 0.115264 1 1 0 CXCL5 6374 broad.mit.edu 37 4 74863731 74863731 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr4:74863731G>A ENST00000296027.4 - 3 521 c.324C>T c.(322-324)gaC>gaT p.D108D NM_002994.3 NP_002985.1 P42830 CXCL5_HUMAN chemokine (C-X-C motif) ligand 5 108 cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction extracellular space chemokine activity p.D108D(1) endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) ACAAGTACCCGTCCAAAATTT 0.388000 35 45 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142609806 142609806 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr7:142609806G>A ENST00000265310.1 - 13 1978 c.1630C>T c.(1630-1632)Cct>Tct p.P544S NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 544 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TAGTTGGCAGGTGCATCAATA 0.493000 54 55 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90816198 90816198 + Missense_Mutation SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr4:90816198T>C ENST00000394980.1 + 2 395 c.76T>C c.(76-78)Tct>Cct p.S26P MMRN1_ENST00000394981.1_Missense_Mutation_p.S26P|MMRN1_ENST00000264790.2_Missense_Mutation_p.S26P Q13201 MMRN1_HUMAN multimerin 1 26 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CAGTAAGCATTCTTGGACTAT 0.428000 25 93 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153130307 153130307 + Silent SNP G G T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chrX:153130307G>T ENST00000370060.1 - 23 3204 c.3015C>A c.(3013-3015)atC>atA p.I1005I L1CAM_ENST00000361699.4_Silent_p.I1005I|L1CAM_ENST00000538883.1_Silent_p.I1007I|L1CAM_ENST00000361981.3_Silent_p.I1000I|L1CAM_ENST00000543994.1_Silent_p.I1007I|L1CAM_ENST00000370057.3_Silent_p.I1005I|L1CAM_ENST00000370055.1_Silent_p.I1000I NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1005 Fibronectin type-III 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTTCCCGTACGATGGCTTCAC 0.632000 59 165 1.45723e-30 1.54223e-30 1 1 0 MED26 9441 broad.mit.edu 37 19 16689204 16689204 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr19:16689204G>A ENST00000263390.3 - 2 351 c.89C>T c.(88-90)gCg>gTg p.A30V CTC-429P9.4_ENST00000593962.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A38V|CTC-429P9.4_ENST00000600705.1_3'UTR NM_004831.3 NP_004822.2 O95402 MED26_HUMAN mediator complex subunit 26 30 TFIIS N-terminal. regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 8 TTCCAGCACCGCCACCATGTT 0.557000 30 42 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189065196 189065196 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr4:189065196G>A ENST00000332517.3 + 5 905 c.765G>A c.(763-765)gaG>gaA p.E255E TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 255 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GCAGGAGCGAGCCACTCTTGC 0.567000 5 28 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100910839 100910839 + Missense_Mutation SNP T T A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chrX:100910839T>A ENST00000328766.5 - 5 2189 c.1736A>T c.(1735-1737)gAc>gTc p.D579V ARMCX2_ENST00000356824.4_Missense_Mutation_p.D579V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.D579V NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 579 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 TCTGAGATTGTCATAGATAAT 0.358000 26 44 0 0 1 0 0 CYP11B1 0 broad.mit.edu 37 8 143956706 143956706 + Silent SNP G G A rs138706121 TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr8:143956706G>A ENST00000292427.4 - 7 1176 c.1144C>T c.(1144-1146)Ctg>Ttg p.L382L CYP11B1_ENST00000517471.1_Silent_p.L382L|CYP11B1_ENST00000377675.3_Silent_p.L453L NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 382 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity p.L382L(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) ACTCGCTCCAGAAACAGACCC 0.607000 Familial Hyperaldosteronism type I 4 25 0 0 1 0 0 NFX1 0 broad.mit.edu 37 9 33311160 33311160 + Missense_Mutation SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr9:33311160A>G ENST00000379540.3 + 6 1495 c.1433A>G c.(1432-1434)gAa>gGa p.E478G NFX1_ENST00000379521.4_Missense_Mutation_p.E478G|NFX1_ENST00000318524.6_Missense_Mutation_p.E478G NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 478 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) AAAACATGTGAATGTGGACGA 0.413000 31 83 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 3 10 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67430801 67430801 + Missense_Mutation SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr11:67430801A>G ENST00000349015.3 - 10 1481 c.1043T>C c.(1042-1044)cTg>cCg p.L348P ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L348P NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 348 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) GGGGGCGAGCAGGCAGGTGCG 0.617000 26 34 0 0 1 0 0 PUS7 54517 broad.mit.edu 37 7 105098346 105098346 + Missense_Mutation SNP T T A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr7:105098346T>A ENST00000356362.2 - 16 2091 c.1877A>T c.(1876-1878)gAt>gTt p.D626V PUS7_ENST00000469408.1_Missense_Mutation_p.D626V NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 626 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 TAGAGAAAAATCCATTTTCAG 0.458000 43 53 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027824 37027824 + Silent SNP G G T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chrX:37027824G>T ENST00000358047.3 + 1 1393 c.1341G>T c.(1339-1341)gtG>gtT p.V447V NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 447 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGACTGGAGTGTCCCATCTCC 0.632000 55 74 5.57489e-27 5.85133e-27 1 1 0 SLC22A12 116085 broad.mit.edu 37 11 64360337 64360337 + Silent SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr11:64360337C>T ENST00000377574.1 + 2 1236 c.489C>T c.(487-489)tgC>tgT p.C163C SLC22A12_ENST00000377572.1_Silent_p.C163C|SLC22A12_ENST00000377567.2_Silent_p.C163C|SLC22A12_ENST00000336464.7_Silent_p.C163C|SLC22A12_ENST00000473690.1_5'UTR NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 163 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 CTGCTGCGTGCGGCCCTGCCT 0.627000 5 100 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15554174 15554174 + Missense_Mutation SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr21:15554174T>C ENST00000344577.2 - 4 636 c.611A>G c.(610-612)gAc>gGc p.D204G LIPI_ENST00000536861.1_Missense_Mutation_p.D183G NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 183 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CCCAGCAGGGTCAAGACCTGG 0.403000 3 20 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106808260 106808260 + Silent SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chrX:106808260C>T ENST00000276185.4 + 13 1359 c.1359C>T c.(1357-1359)ggC>ggT p.G453G Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 453 FERM. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 AGAACCAGGGCGTGGCCCGGG 0.537000 25 74 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71510353 71510353 + Silent SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr4:71510353C>T ENST00000396073.3 + 9 3491 c.3210C>T c.(3208-3210)acC>acT p.T1070T ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 1070 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CTTCCACCACCGGAACTCCAT 0.448000 5 83 0 0 1 0 0 YWHAE 7531 broad.mit.edu 37 17 1268267 1268267 + Missense_Mutation SNP C C G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr17:1268267C>G ENST00000264335.8 - 2 417 c.150G>C c.(148-150)aaG>aaC p.K50N YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Missense_Mutation_p.K50N|YWHAE_ENST00000571732.1_Missense_Mutation_p.K28N NM_006761.4 NP_006752.1 P62258 1433E_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 50 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) CAATCACATTCTTATATGCAA 0.423000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 4 84 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070184 141070184 + RNA SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr9:141070184G>A ENST00000503395.1 + 0 1264 GGCGAGGACTGGGGTGCGGCT 0.642000 16 61 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72163701 72163701 + Silent SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:72163701A>G ENST00000357731.4 - 4 896 c.657T>C c.(655-657)gtT>gtC p.V219V NEGR1_ENST00000306821.3_Silent_p.V91V|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Intron NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 219 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) AGTTGACAACAACTTTTACTT 0.348000 16 16 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187629810 187629810 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr4:187629810G>A ENST00000441802.2 - 2 1381 c.1172C>T c.(1171-1173)gCc>gTc p.A391V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 391 Cadherin 3. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGCAGGAATGGCCTTTACCAT 0.388000 HNSCC(5;0.00058) 12 78 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24531941 24531941 + Missense_Mutation SNP G G C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr14:24531941G>C ENST00000342740.5 + 29 2746 c.2592G>C c.(2590-2592)agG>agC p.R864S LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 864 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CCCAGCTAAGGACGCTGTCAG 0.627000 37 38 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28491947 28491947 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr15:28491947G>A ENST00000261609.7 - 22 3440 c.3332C>T c.(3331-3333)gCt>gTt p.A1111V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1111 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCTGGTAGAAGCAATGCTGGC 0.507000 35 46 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220364615 220364615 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:220364615C>T ENST00000358951.2 - 14 1398 c.1282G>A c.(1282-1284)Gca>Aca p.A428T NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 428 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity p.A428T(2) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) CCAATTTGTGCGTCGCGGTAC 0.468000 9 13 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44132737 44132737 + Missense_Mutation SNP T T C TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:44132737T>C ENST00000372396.3 + 8 1024 c.890T>C c.(889-891)aTt>aCt p.I297T NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 297 JmjC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 CGTCGGTGGATTGAGTACGGC 0.443000 4 79 0 0 1 0 0 RGMB 285704 broad.mit.edu 37 5 98129390 98129390 + Missense_Mutation SNP C C G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr5:98129390C>G ENST00000308234.7 + 5 1772 c.1370C>G c.(1369-1371)cCc>cGc p.P457R RGMB_ENST00000513185.1_Missense_Mutation_p.P416R NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 416 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) AATGGGACTCCCCGTGGAGGC 0.502000 13 11 0 0 1 0 0 TBC1D25 4943 broad.mit.edu 37 X 48418191 48418191 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chrX:48418191C>T ENST00000376771.4 + 6 1236 c.895C>T c.(895-897)Cac>Tac p.H299Y TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Missense_Mutation_p.H45Y NM_002536.2 NP_002527.1 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 299 Rab-GAP TBC. intracellular Rab GTPase activator activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 TGACCGGGCCCACCCCTACTA 0.632000 11 47 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133878164 133878164 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr3:133878164G>A ENST00000427044.2 - 15 1672 c.1062C>T c.(1060-1062)taC>taT p.Y354Y RYK_ENST00000296084.4_Silent_p.Y544Y P34925 RYK_HUMAN receptor-like tyrosine kinase 540 Protein kinase. corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 CAATGTCCACGTAGGGAGTCT 0.488000 6 26 0 0 1 0 0 SLC30A7 148867 broad.mit.edu 37 1 101377773 101377773 + Missense_Mutation SNP C C T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:101377773C>T ENST00000370112.4 + 5 677 c.490C>T c.(490-492)Cat>Tat p.H164Y SLC30A7_ENST00000357650.4_Missense_Mutation_p.H164Y NM_001144884.1|NM_133496.4 NP_001138356.1|NP_598003.2 Q8NEW0 ZNT7_HUMAN solute carrier family 30 (zinc transporter), member 7 164 His-rich loop. zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding endometrium(3)|large_intestine(2)|lung(10) 15 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) ACATGGAGGTCATGGACATTC 0.373000 5 128 0 0 1 0 0 FMO4 2329 broad.mit.edu 37 1 171300885 171300885 + Silent SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr1:171300885A>G ENST00000367749.3 + 6 921 c.591A>G c.(589-591)ggA>ggG p.G197G FMO4_ENST00000462992.1_3'UTR NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 197 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) ACACTGGAGGAGACATTGCTG 0.458000 5 136 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271146 1271146 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr11:1271146G>A ENST00000447027.1 + 31 13103 c.13045G>A c.(13045-13047)Gcc>Acc p.A4349T MUC5B_ENST00000529681.1_Missense_Mutation_p.A4346T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4346 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACACCCGTGGCCACCATGTC 0.627000 22 160 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834572 61834572 + Missense_Mutation SNP C C T rs146929899 byFrequency TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr10:61834572C>T ENST00000280772.1 - 37 6258 c.6067G>A c.(6067-6069)Gcc>Acc p.A2023T ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2023 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTTCGGAGGCGGCTTTTGCT 0.418000 9 80 0 0 1 0 0 PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 2 4 --- --- --- --- NEUROG1 4762 broad.mit.edu 37 5 134871191 134871191 + Frame_Shift_Del DEL C C - TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr5:134871191delC ENST00000314744.4 - 1 448 c.190delG c.(190-192)cafs p.A64fs NM_006161.2 NP_006152.2 Q92886 NGN1_HUMAN neurogenin 1 64 positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter nucleus chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity endometrium(1)|liver(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCGTCCTGTGCCCCTGGAACC 0.756 2 4 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 2 4 --- --- --- --- FOXH1 8928 broad.mit.edu 37 8 145701110 145701110 + Frame_Shift_Del DEL C C - TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr8:145701110delC ENST00000377317.4 - 1 608 c.30delG c.(28-30)ggfs p.G10fs FOXH1_ENST00000525197.1_5'UTR NM_003923.2 NP_003914.1 O75593 FOXH1_HUMAN forkhead box H1 10 axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCTCTGGGGGCCCCAGGCGGG 0.687 2 4 --- --- --- --- POLR3A 11128 broad.mit.edu 37 10 79785474 79785474 + Frame_Shift_Del DEL T T - TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr10:79785474delT ENST00000372371.3 - 3 361 c.224delA c.(223-225)acfs p.N75fs NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 75 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GTCAGCCAAGTTTTTCCCACA 0.483 25 93 --- --- --- --- TAOK1 57551 broad.mit.edu 37 17 27778575 27778578 + Frame_Shift_Del DEL AACT AACT - TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chr17:27778575_27778578delAACT ENST00000261716.3 + 2 528_531 c.9_12delAACT c.(7-12)tcfs p.ST3fs TAOK1_ENST00000536202.1_Frame_Shift_Del_p.ST3fs NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 3 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) GGATGCCATCAACTAACAGAGCAG 0.446 16 28 --- --- --- --- BCOR 54880 broad.mit.edu 37 X 39922291 39922291 + Frame_Shift_Del DEL T T - TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc434402-b13e-4f3a-ace5-ccb1d3924f4f 96550f20-a2c9-44cc-b049-b725483fdfce g.chrX:39922291delT ENST00000342274.4 - 9 4141 c.3779delA c.(3778-3780)agfs p.K1260fs BCOR_ENST00000397354.3_Frame_Shift_Del_p.K1260fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.K1242fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.K1294fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.K137fs NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1294 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TGAAAGACTCTTCATGGGCGG 0.592 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 4 5 --- --- --- ---