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 uc001bin.4 - 36 4382 c.4219G>A c.(4219-4221)Gtc>Atc p.V1407I MYOM3_uc001bil.4_Missense_Mutation_p.V300I|MYOM3_uc001bim.4_Missense_Mutation_p.V1064I NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 1407 Ig-like C2-type 4. p.G1406G(1) 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 1 0 0 NBEAP1 606 broad.mit.edu 37 15 20876449 20876449 + 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.chr15:20876449G>A uc010tze.1 - 1 371 c.164C>T c.(163-165)cCt>cTt p.P55L NBEAP1_uc010tzd.2_Non-coding_Transcript Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA. TACCTTTGCAGGTGTATGTAT 0.333000 4 32 0 0 1 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 uc002mbv.3 - 10 1463 c.1229A>G c.(1228-1230)cAg>cGg p.Q410R PTPRS_uc002mbu.1_Missense_Mutation_p.Q397R|PTPRS_uc010xin.2_Missense_Mutation_p.Q397R|PTPRS_uc002mbw.3_Missense_Mutation_p.Q397R|PTPRS_uc002mbx.3_Missense_Mutation_p.Q401R|PTPRS_uc002mby.3_Missense_Mutation_p.Q397R NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 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 1 0 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 uc001tlp.3 + 27 3562 c.3340T>A c.(3340-3342)Ttc>Atc p.F1114I LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.F1056I NM_018082 NP_001154180 Q9NW08 RPC2_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA. 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 1 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 uc021vfn.1 - 11 1357 c.1325G>A c.(1324-1326)cGc>cAc p.R442H CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.R438H|CAPN13_uc002rno.3_5'UTR NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 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 1 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 uc003sti.3 - 6 1042 c.798C>T c.(796-798)atC>atT p.I266I ANKMY2_uc010ktz.3_Non-coding_Transcript NM_020319 NP_064715 Q8IV38 ANKY2_HUMAN Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA. 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 1 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 uc003fxh.3 - 2 1411 c.1264C>T c.(1264-1266)Ctc>Ttc p.L422F NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA. 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 1 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 uc003ytw.3 + 21 4641 c.4600A>G c.(4600-4602)Aag>Gag p.K1534E TG_uc010mdw.3_Missense_Mutation_p.K293E|TG_uc011ljb.2_5'UTR|TG_uc003ytx.1_Intron NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 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 1 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 uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(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 1 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 uc021vhg.1 - 0 1650 c.729C>T c.(727-729)tgC>tgT p.C243C NRXN1_uc021vhh.1_Silent_p.C243C|NRXN1_uc021vhi.1_Silent_p.C243C|NRXN1_uc021vhj.1_Silent_p.C243C|NRXN1_uc021vhk.1_Silent_p.C243C NM_001135659 NP_001129131 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA. 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 1 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 uc001hxj.2 - 23 7096 c.6921A>G c.(6919-6921)ttA>ttG p.L2307L NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 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 1 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 uc002hke.1 - 10 1089 c.940_splice c.e10-1 p.A314_splice C17orf66_uc010wck.1_Splice_Site|C17orf66_uc010wcl.1_Splice_Site_p.A274_splice|C17orf66_uc010wcm.1_Splice_Site_p.A280_splice NM_152781 NP_689994 A2RTY3 CQ066_HUMAN Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA. 314 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 1 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 uc003qrf.3 + 8 2985 c.1628C>T c.(1627-1629)cCa>cTa p.P543L TULP4_uc003qrg.3_Missense_Mutation_p.P543L NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA. 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 1 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 uc001jhs.4 - 4 1122 c.968A>G c.(967-969)aAa>aGa p.K323R ERCC6_uc001jht.3_5'UTR|ERCC6_uc009xoe.3_Missense_Mutation_p.K323R|ERCC6_uc001jhu.3_Missense_Mutation_p.K323R NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 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|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex 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 1 0 0 NBEAP1 606 broad.mit.edu 37 15 20876446 20876446 + 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.chr15:20876446G>A uc010tze.1 - 1 374 c.167C>T c.(166-168)gCa>gTa p.A56V NBEAP1_uc010tzd.2_Non-coding_Transcript Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA. TCATACCTTTGCAGGTGTATG 0.333000 4 30 0 0 1 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 uc001fbo.3 - 5 419 c.354_splice c.e5-1 p.N118_splice PGLYRP4_uc001fbp.3_Splice_Site_p.N114_splice NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA. 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 1 0 0 PCDHGC5 56097 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 uc003ljq.2 + 0 1702 c.1702C>A c.(1702-1704)Cct>Act p.P568T PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.P568T NM_018917 NP_061740 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA. 570 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCACCTTCCCTACTGATGG 0.577000 32 302 0 0 1 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 uc010vkj.1 - 15 2267 c.2227G>A c.(2227-2229)Gag>Aag p.E743K LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.E735K|SLC12A4_uc010vkh.1_Missense_Mutation_p.E710K|SLC12A4_uc002euz.2_Missense_Mutation_p.E741K|SLC12A4_uc010vki.1_Missense_Mutation_p.E741K|SLC12A4_uc002eva.2_Missense_Mutation_p.E741K|SLC12A4_uc010cev.1_Non-coding_Transcript|SLC12A4_uc002evb.2_Non-coding_Transcript NM_001145962 NP_001139434 Q9UP95 S12A4_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA. 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 1 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 uc003umo.3 + 1 218 c.90G>A c.(88-90)cgG>cgA p.R30R CCDC132_uc003ump.3_5'UTR|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.R30R|CCDC132_uc003umn.3_Silent_p.R30R NM_017667 NP_060137 Q96JG6 CC132_HUMAN Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA. 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 1 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 uc011cpa.1 - 33 7350 c.7119A>G c.(7117-7119)ccA>ccG p.P2373P C5orf42_uc011coy.1_Silent_p.P873P|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.P1448P|C5orf42_uc003jkr.1_Silent_p.P406P NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 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 1 0 0 FLJ35282 441389 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 uc003zpq.1 + 5 c.1585delC Homo sapiens uncharacterized LOC441389 (FLJ35282), non-coding RNA. cagcaggaagcagttagagtg 0.537 2 4 --- --- --- ---