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 TSPYL5 85453 broad.mit.edu 37 8 98289030 98289030 + Missense_Mutation SNP C C T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr8:98289030C>T ENST00000322128.3 - 1 1146 c.1043G>A c.(1042-1044)cGt>cAt p.R348H NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 348 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) AAAGAAACTACGGTTGTTTTC 0.498000 5 117 0 0 1 0 0 PIP5KL1 138429 broad.mit.edu 37 9 130688198 130688198 + Silent SNP G G A TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr9:130688198G>A ENST00000388747.4 - 8 755 c.711C>T c.(709-711)ccC>ccT p.P237P PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.P34P NM_001135219.1 NP_001128691.1 Q5T9C9 PI5L1_HUMAN phosphatidylinositol-4-phosphate 5-kinase-like 1 237 PIPK. cytoplasm|membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1) 8 CCAGAACAAGGGGGCTGCCCT 0.582000 3 52 0 0 1 0 0 ABCG2 9429 broad.mit.edu 37 4 89042815 89042815 + Missense_Mutation SNP C C T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr4:89042815C>T ENST00000237612.3 - 6 1206 c.661G>A c.(661-663)Gca>Aca p.A221T ABCG2_ENST00000515655.1_Missense_Mutation_p.A221T NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 221 ABC transporter. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) ACAGCATTTGCTGTGCTTGAG 0.403000 3 40 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810795 123810795 + Missense_Mutation SNP G G A TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr11:123810795G>A ENST00000307033.2 + 1 546 c.472G>A c.(472-474)Gta>Ata p.V158I NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCACTCCATAGTACAGATTGC 0.512000 4 91 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190874243 190874243 + Missense_Mutation SNP C C G TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr4:190874243C>G ENST00000226798.4 + 4 502 c.280C>G c.(280-282)Cca>Gca p.P94A FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 94 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) CCCTAGTCCTCCAGAGCAGTT 0.279000 3 22 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56093824 56093824 + Missense_Mutation SNP G G A TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr20:56093824G>A ENST00000426658.2 - 4 1710 c.1049C>T c.(1048-1050)gCc>gTc p.A350V CTCFL_ENST00000423479.2_Missense_Mutation_p.A350V|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V|CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.2_Missense_Mutation_p.A350V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V|CTCFL_ENST00000433949.2_Missense_Mutation_p.A350V|CTCFL_ENST00000422109.2_Missense_Mutation_p.A350V|CTCFL_ENST00000481655.1_5'UTR Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 350 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CTCCACACTGGCATACTTGCA 0.443000 4 157 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32747510 32747510 + Missense_Mutation SNP G G A TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr13:32747510G>A ENST00000380250.3 + 19 2654 c.2158G>A c.(2158-2160)Gca>Aca p.A720T NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 720 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACAGCTCATCGCAAATGGCTC 0.413000 6 77 0 0 1 0 0 STK3 6788 broad.mit.edu 37 8 99718756 99718756 + Missense_Mutation SNP C C G TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr8:99718756C>G ENST00000523601.1 - 8 1106 c.707G>C c.(706-708)gGc>gCc p.G236A STK3_ENST00000419617.2_Missense_Mutation_p.G208A NM_001256312.1 NP_001243241.1 Q13188 STK3_HUMAN serine/threonine kinase 3 208 Protein kinase. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) AGAAGTAATGCCAAGGGACCA 0.398000 4 97 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2944670 2944670 + Silent SNP C C T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr3:2944670C>T ENST00000397461.1 + 11 1572 c.1188C>T c.(1186-1188)aaC>aaT p.N396N CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Silent_p.N177N NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 396 Ig-like C2-type 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TCTTTTCCAACGCAGAGCTTA 0.353000 4 51 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71654016 71654016 + Missense_Mutation SNP G G T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr2:71654016G>T ENST00000409544.1 + 24 5647 c.5017G>T c.(5017-5019)Gat>Tat p.D1673Y ZNF638_ENST00000409407.1_Missense_Mutation_p.D613Y|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1673Y NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1673 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TGAAGAACAAGATCTCCTCAA 0.378000 4 85 0.00024832 0.000266714 1 1 0 TMEM71 137835 broad.mit.edu 37 8 133764058 133764058 + Missense_Mutation SNP C C T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr8:133764058C>T ENST00000356838.3 - 4 429 c.287G>A c.(286-288)aGc>aAc p.S96N TMEM71_ENST00000523829.1_Missense_Mutation_p.S96N|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S96N NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 96 integral to membrane p.S96T(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) ATACATAACGCTGGTCTGGGA 0.403000 7 115 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240492719 240492719 + Missense_Mutation SNP G G T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr1:240492719G>T ENST00000319653.9 + 10 4618 c.4388G>T c.(4387-4389)aGc>aTc p.S1463I FMN2_ENST00000545751.1_Missense_Mutation_p.S59I NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1463 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTTTCAGAAAGCATTTGCTCA 0.408000 5 80 0.184627 0.184627 1 1 0 LRP5L 91355 broad.mit.edu 37 22 25753228 25753228 + Missense_Mutation SNP C C G TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr22:25753228C>G ENST00000444995.3 - 5 1132 c.432G>C c.(430-432)aaG>aaC p.K144N LRP5L_ENST00000402859.2_Missense_Mutation_p.K144N|LRP5L_ENST00000402785.2_Missense_Mutation_p.K144N A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 5-like 144 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 TCACCTCGATCTTGTCTGTCT 0.657000 5 45 0 0 1 0 0 FBXO21 23014 broad.mit.edu 37 12 117624369 117624369 + Missense_Mutation SNP C C T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr12:117624369C>T ENST00000427718.2 - 3 457 c.383G>A c.(382-384)tGt>tAt p.C128Y FBXO21_ENST00000330622.5_Missense_Mutation_p.C128Y|FBXO21_ENST00000549689.1_5'UTR NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 128 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) GAAGCCATTACAAGGAACCTA 0.383000 7 76 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24530349 24530349 + Silent SNP C C G TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr22:24530349C>G ENST00000398319.2 + 29 5098 c.4713C>G c.(4711-4713)ctC>ctG p.L1571L CABIN1_ENST00000405822.2_Silent_p.L1492L|CABIN1_ENST00000263119.5_Silent_p.L1571L NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1571 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CACAGGGGCTCTTCTGCGAGA 0.532000 3 18 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102953049 102953049 + Silent SNP T T C TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr7:102953049T>C ENST00000379263.3 - 17 2083 c.1833A>G c.(1831-1833)gaA>gaG p.E611E PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Silent_p.E558E|PMPCB_ENST00000420236.2_Intron NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 611 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 TCAGCACTTGTTCTTGAGCAG 0.328000 6 91 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16959698 16959698 + RNA SNP G G A rs9730434 by1000genomes TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr1:16959698G>A ENST00000412962.1 - 0 74 p.H56H(4) GGTCCTTCTCGTGGAGCACCT 0.657000 4 38 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40415250 40415250 + Missense_Mutation SNP G G C TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr22:40415250G>C ENST00000333407.5 + 2 662 c.568G>C c.(568-570)Gtc>Ctc p.V190L FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 190 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TAAGCGCCGGGTCCCAGTGTA 0.532000 3 83 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 48 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 37 0 0 1 0 0 AC113618.1 0 broad.mit.edu 37 2 239644014 239644014 + RNA DEL T T - TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr2:239644014delT ENST00000448543.1 + 0 98 ttttaacttcttttttgggct 0.408 2 4 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195701310 195701311 + RNA INS - - AA TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr3:195701310_195701311insAA ENST00000427841.1 - 0 1513_1514 NR_003264.2 CATGCCTGACCAGACAACCAGG 0.574 7 48 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 5 6 --- --- --- --- SRP54 6729 broad.mit.edu 37 14 35480857 35480857 + Frame_Shift_Del DEL A A - TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr14:35480857delA ENST00000556994.1 + 9 1025 c.628delA c.(628-630)atfs p.N210fs SRP54_ENST00000216774.6_Frame_Shift_Del_p.N210fs|SRP54_ENST00000546080.1_Frame_Shift_Del_p.N161fs|SRP54_ENST00000555557.1_Frame_Shift_Del_p.N146fs P61011 SRP54_HUMAN signal recognition particle 54kDa 210 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) TCAAGTTGCTAATGCTATAGT 0.274 9 174 --- --- --- ---