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 MYOM3 127294 broad.mit.edu 37 1 24383949 24383949 + Missense_Mutation SNP C C T TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr1:24383949C>T ENST00000330966.7 - 37 4390 c.4228G>A c.(4228-4230)Gtc>Atc p.V1410I MYOM3_ENST00000374434.3_Missense_Mutation_p.V1407I|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.V300I Q5VTT5 MYOM3_HUMAN myomesin 3 1407 Ig-like C2-type 4. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TTGACGAAGACGCCGTAGCGG 0.577000 10 48 0 0 0.080935 0 0 NBEAP1 0 broad.mit.edu 37 15 20876449 20876449 + RNA SNP G G A TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr15:20876449G>A ENST00000556948.1 - 0 151 TACCTTTGCAGGTGTATGTAT 0.333000 4 32 0 0 0.009096 0 0 PTPRS 5802 broad.mit.edu 37 19 5244253 5244253 + Missense_Mutation SNP T T C TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr19:5244253T>C ENST00000372412.4 - 11 1465 c.1232A>G c.(1231-1233)cAg>cGg p.Q411R PTPRS_ENST00000592099.1_Missense_Mutation_p.Q397R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.Q397R|PTPRS_ENST00000357368.4_Missense_Mutation_p.Q410R|PTPRS_ENST00000587303.1_Missense_Mutation_p.Q410R|PTPRS_ENST00000353284.2_Missense_Mutation_p.Q397R|PTPRS_ENST00000348075.2_Missense_Mutation_p.Q397R|PTPRS_ENST00000262963.6_Missense_Mutation_p.Q406R Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 410 Fibronectin type-III 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGGGGGCCCCTGGCCGATGGA 0.672000 25 37 0 0 0.083992 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 4 58 0.00909568 0.00989824 0.009096 1 0 POLR3B 55703 broad.mit.edu 37 12 106903265 106903265 + Missense_Mutation SNP T T A TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr12:106903265T>A ENST00000228347.4 + 28 3562 c.3340T>A c.(3340-3342)Ttc>Atc p.F1114I POLR3B_ENST00000539066.1_Missense_Mutation_p.F1056I|RP11-144F15.1_ENST00000551505.1_Intron NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 1114 innate immune response|positive regulation of 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 nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 CAAGCTGCTCTTCCAGGAACT 0.443000 36 59 0 0 0.098360 0 0 CAPN13 92291 broad.mit.edu 37 2 30966369 30966369 + Missense_Mutation SNP C C T TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr2:30966369C>T ENST00000295055.8 - 13 1501 c.1325G>A c.(1324-1326)cGc>cAc p.R442H CAPN13_ENST00000534090.2_Missense_Mutation_p.R442H NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 442 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GAAGTTGCGGCGGAATTTATT 0.463000 70 121 0 0 0.048971 0 0 ANKMY2 57037 broad.mit.edu 37 7 16649339 16649339 + Silent SNP G G A TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr7:16649339G>A ENST00000306999.2 - 7 1041 c.798C>T c.(796-798)atC>atT p.I266I NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 266 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TTTCTCTAATGATCTTTTCTT 0.393000 9 66 0 0 0.047766 0 0 PIGZ 80235 broad.mit.edu 37 3 196674504 196674504 + Missense_Mutation SNP G G A TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr3:196674504G>A ENST00000412723.1 - 3 1410 c.1264C>T c.(1264-1266)Ctc>Ttc p.L422F NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 422 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) AGGGCACCGAGGGCGTTGAAG 0.652000 7 29 0 0 0.029380 0 0 TG 7038 broad.mit.edu 37 8 133935654 133935654 + Missense_Mutation SNP A A G TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr8:133935654A>G ENST00000220616.4 + 22 4640 c.4600A>G c.(4600-4602)Aag>Gag p.K1534E TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1534 Thyroglobulin type-1 11. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGCCAGCCAGAAGGACAGGGG 0.572000 6 55 0 0 0.029380 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 72 113 0 0 0.048971 0 0 NRXN1 9378 broad.mit.edu 37 2 51254683 51254683 + Silent SNP G G A TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr2:51254683G>A ENST00000404971.1 - 2 2068 c.729C>T c.(727-729)tgC>tgT p.C243C NRXN1_ENST00000406859.3_Silent_p.C243C|NRXN1_ENST00000406316.2_Silent_p.C243C|NRXN1_ENST00000402717.3_Silent_p.C243C|NRXN1_ENST00000405472.3_Silent_p.C243C|NRXN1_ENST00000401669.2_Silent_p.C243C|NRXN1_ENST00000405581.1_Silent_p.C243C NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 243 EGF-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCGAGCAGTCGCACACGGCCT 0.751000 3 21 0 0 0.009096 0 0 LYST 1130 broad.mit.edu 37 1 235920719 235920719 + Silent SNP T T C TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr1:235920719T>C ENST00000389794.3 - 24 7095 c.6921A>G c.(6919-6921)ttA>ttG p.L2307L LYST_ENST00000389793.2_Silent_p.L2307L Q99698 LYST_HUMAN lysosomal trafficking regulator 2307 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGAGTTCATATAATCCACAGC 0.373000 30 54 0 0 0.041601 0 0 C17orf66 256957 broad.mit.edu 37 17 34185530 34185530 + Splice_Site SNP C C T TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr17:34185530C>T ENST00000311880.2 - 10 1088 c.e10-1 C17orf66_ENST00000592980.1_Splice_Site NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TCCTAAGTGCCTATGAGGGGG 0.562000 11 21 0 0 0.069234 0 0 TULP4 56995 broad.mit.edu 37 6 158910761 158910761 + Missense_Mutation SNP C C T TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr6:158910761C>T ENST00000367097.3 + 9 2985 c.1628C>T c.(1627-1629)cCa>cTa p.P543L TULP4_ENST00000367094.2_Missense_Mutation_p.P543L NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 543 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCCAAACTCCCAAGGTAATCT 0.478000 8 57 0 0 0.038147 0 0 ERCC6 2074 broad.mit.edu 37 10 50732508 50732508 + Missense_Mutation SNP T T C TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr10:50732508T>C ENST00000355832.5 - 5 1046 c.968A>G c.(967-969)aAa>aGa p.K323R PGBD3_ENST00000603152.1_Missense_Mutation_p.K323R|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.K323R|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.K323R NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 323 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CTCCTCTTTTTTGGACAGAAC 0.473000 Direct reversal of damage;Nucleotide excision repair (NER) 47 79 0 0 0.048971 0 0 NBEAP1 0 broad.mit.edu 37 15 20876446 20876446 + RNA SNP G G A TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr15:20876446G>A ENST00000556948.1 - 0 154 TCATACCTTTGCAGGTGTATG 0.333000 4 30 0 0 0.009096 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153315684 153315684 + Splice_Site SNP G G A TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr1:153315684G>A ENST00000368739.3 - 5 700 c.341_splice c.e5-1 p.N114_splice PGLYRP4_ENST00000359650.5_Splice_Site_p.N118_splice Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 118 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CAACCAGGAAGCTATGGAGCA 0.502000 29 54 0 0 0.045705 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_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) 5 33 0 0 0.014758 0 0 PCDHGA4 0 broad.mit.edu 37 5 140736469 140736469 + Missense_Mutation SNP C C A TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr5:140736469C>A ENST00000571252.1 + 1 1702 c.1702C>A c.(1702-1704)Cct>Act p.P568T PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCACCTTCCCTACTGATGG 0.577000 32 302 2.80507e-11 3.24336e-11 0.050027 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 53 0 0 0.009096 0 0 SLC12A4 6560 broad.mit.edu 37 16 67980860 67980860 + Missense_Mutation SNP C C T TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr16:67980860C>T ENST00000422611.2 - 16 2266 c.2227G>A c.(2227-2229)Gag>Aag p.E743K SLC12A4_ENST00000537830.2_Missense_Mutation_p.E735K|SLC12A4_ENST00000316341.3_Missense_Mutation_p.E741K|SLC12A4_ENST00000572037.1_Missense_Mutation_p.E693K|SLC12A4_ENST00000338335.3_Missense_Mutation_p.E741K|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E741K|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E710K NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 741 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCCTGAGCCTCGCCATAGCTC 0.637000 26 51 0 0 0.030593 0 0 CCDC132 55610 broad.mit.edu 37 7 92869235 92869235 + Silent SNP G G A TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr7:92869235G>A ENST00000305866.5 + 2 218 c.90G>A c.(88-90)cgG>cgA p.R30R CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000535481.1_Silent_p.R30R|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000251739.5_Silent_p.R30R NM_017667.3 NP_060137.2 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 30 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AGAGTCTCCGGGTCCCTGGAA 0.393000 34 71 0 0 0.080422 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 27 0 0 0.004672 0 0 C5orf42 65250 broad.mit.edu 37 5 37169007 37169007 + Silent SNP T T C TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr5:37169007T>C ENST00000274258.7 - 34 7346 c.3759A>G c.(3757-3759)ccA>ccG p.P1253P C5orf42_ENST00000425232.2_Silent_p.P2373P|C5orf42_ENST00000508244.1_Silent_p.P2373P E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2373 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TTGAGGTTGATGGAAACATAT 0.393000 28 123 0 0 0.037714 0 0 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr15:33962623T>G ENST00000389232.4 + 38 5796 c.5726T>G c.(5725-5727)gTt>gGt p.V1909G RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1909 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.V1909G(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCTAGGGGTTCCTTTggaa 0.473000 7 21 0 0 0.038395 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32521539 32521540 + RNA INS - - GAAA rs71843515 TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr6:32521539_32521540insGAAA ENST00000411500.1 - 0 851 NR_001298.1 GGTCATTTGGGGAAAGACTTTA 0.431 3 3 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114292109 114292110 + In_Frame_Ins INS - - CTG TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr6:114292109_114292110insCTG ENST00000398283.2 - 1 249_250 c.245_246insCAG c.(244-246)aag>aCAGag p.82_82K>TE RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA NM_001527.3 NP_001518.3 Q92769 HDAC2_HUMAN histone deacetylase 2 0 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GGCTCCTCCTCctgctgctgct 0.688 4 5 --- --- --- --- RP11-399D6.2 0 broad.mit.edu 37 9 22823450 22823450 + RNA DEL C C - TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr9:22823450delC ENST00000436786.1 + 0 1585 NR_038977.1 cagcaggaagcagttagagtg 0.537 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 3 5 --- --- --- --- SKA2 348235 broad.mit.edu 37 17 57232498 57232498 + Frame_Shift_Del DEL T T - TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chr17:57232498delT ENST00000330137.7 - 1 132 c.27delA c.(25-27)gafs p.E9fs SKA2_ENST00000580541.1_5'UTR|SKA2_ENST00000583927.1_5'UTR|SKA2_ENST00000437036.2_5'UTR|SKA2_ENST00000578105.1_Frame_Shift_Del_p.E9fs|SKA2_ENST00000583380.1_Frame_Shift_Del_p.E9fs|SKA2_ENST00000581068.1_Frame_Shift_Del_p.E9fs NM_182620.3 NP_872426.1 Q8WVK7 SKA2_HUMAN spindle and kinetochore associated complex subunit 2 9 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding lung(4) 4 TCACCATCAGTTCCAGCTTAT 0.562 19 292 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 6 --- --- --- --- RBMY2EP 0 broad.mit.edu 37 Y 23563322 23563323 + RNA DEL AC AC - TCGA-DJ-A2PP-01A-11D-A19J-08 TCGA-DJ-A2PP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4 b9468d7e-7742-42c4-8295-e524ea19c877 g.chrY:23563322_23563323delAC ENST00000444169.1 - 0 86 NR_001574.2 ATATGAAAATacacacacacac 0.302 6 8 --- --- --- ---