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 YBX2 51087 broad.mit.edu 37 17 7193313 7193313 + Silent SNP C C T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr17:7193313C>T ENST00000007699.5 - 6 885 c.822G>A c.(820-822)ccG>ccA p.P274P NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 274 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 GGAATCTGGGCGGGGGGACTC 0.627000 4 18 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 4 51 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127693555 127693555 + Silent SNP G G A rs137911829 TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr10:127693555G>A ENST00000368695.1 + 7 746 c.624G>A c.(622-624)ctG>ctA p.L208L FANK1_ENST00000368693.1_Silent_p.L214L|FANK1_ENST00000477963.1_3'UTR NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 214 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GTACAGCTCTGCACTGGGCTG 0.532000 5 76 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18828544 18828544 + Missense_Mutation SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr10:18828544G>A ENST00000396576.2 + 13 2210 c.1709G>A c.(1708-1710)cGc>cAc p.R570H RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.R577H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R625H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R601H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R532H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R597H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R571H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R375H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R573H NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 625 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AACAAGCAGCGCAGCCGTCAT 0.547000 11 46 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3327970 3327970 + Silent SNP C C T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr1:3327970C>T ENST00000378398.3 + 10 1294 c.1212C>T c.(1210-1212)taC>taT p.Y404Y PRDM16_ENST00000442529.2_Silent_p.Y403Y|PRDM16_ENST00000441472.2_Silent_p.Y403Y|PRDM16_ENST00000511072.1_Silent_p.Y404Y|PRDM16_ENST00000270722.5_Silent_p.Y403Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.Y403Y|PRDM16_ENST00000514189.1_Silent_p.Y404Y Q9HAZ2 PRD16_HUMAN PR domain containing 16 403 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) ACAAGTCCTACACGCAGTTCT 0.542000 T EVI1 """MDS, AML""" 6 8 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2644558 2644558 + Missense_Mutation SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr7:2644558G>A ENST00000402050.2 + 19 1860 c.1676G>A c.(1675-1677)cGg>cAg p.R559Q IQCE_ENST00000325979.7_Missense_Mutation_p.R494Q|IQCE_ENST00000438376.2_Missense_Mutation_p.R543Q|IQCE_ENST00000404984.1_Missense_Mutation_p.R508Q NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 559 IQ 1. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) CATCTCACGCGGACAAAGCTC 0.622000 6 10 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91711856 91711856 + Silent SNP T T C TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr7:91711856T>C ENST00000359028.2 + 33 8301 c.8076T>C c.(8074-8076)caT>caC p.H2692H AKAP9_ENST00000358100.2_Silent_p.H2692H|AKAP9_ENST00000356239.3_Silent_p.H2680H Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2692 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGCTATTTCATAGCAATGAAG 0.338000 T BRAF papillary thyroid 35 63 0 0 1 0 0 CCSER1 401145 broad.mit.edu 37 4 91229914 91229914 + Missense_Mutation SNP A A G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr4:91229914A>G ENST00000509176.1 + 2 767 c.479A>G c.(478-480)gAt>gGt p.D160G CCSER1_ENST00000333691.8_Missense_Mutation_p.D160G|CCSER1_ENST00000432775.2_Missense_Mutation_p.D160G NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 AGTGAAGGGGATGATTCTGGT 0.358000 12 20 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176523689 176523689 + Silent SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr5:176523689G>A ENST00000292408.4 + 16 2345 c.2100G>A c.(2098-2100)tcG>tcA p.S700S FGFR4_ENST00000393648.2_Silent_p.S632S|FGFR4_ENST00000393637.1_Silent_p.S660S|FGFR4_ENST00000502906.1_Silent_p.S700S|FGFR4_ENST00000292410.3_Silent_p.S660S NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 700 Protein kinase. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) AGCTGTTCTCGCTGCTGCGGG 0.652000 TSP Lung(9;0.080) 11 46 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63246574 63246574 + Missense_Mutation SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr14:63246574G>A ENST00000322893.7 - 10 2159 c.1891C>T c.(1891-1893)Cgg>Tgg p.R631W KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.R573W NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 631 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GTCAGTGCCCGGACGTTCGCA 0.453000 3 49 0 0 1 0 0 F12 2161 broad.mit.edu 37 5 176833050 176833050 + Missense_Mutation SNP G G T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr5:176833050G>T ENST00000253496.3 - 3 176 c.128C>A c.(127-129)aCc>aAc p.T43N NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 43 Fibronectin type-II. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGCTCCCCGGTGACAGTGAG 0.592000 Hereditary Angioedema 18 35 5.35267e-07 6.04333e-07 1 1 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 4 127 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965941 123965941 + Missense_Mutation SNP T T G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr8:123965941T>G ENST00000314393.4 + 3 3026 c.2191T>G c.(2191-2193)Tac>Gac p.Y731D NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 731 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) TCCACAATATTACAAGGACCC 0.527000 13 69 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 7 96 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 63 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687983 68687983 + Missense_Mutation SNP G G C TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr10:68687983G>C ENST00000361320.4 + 2 1887 c.1309G>C c.(1309-1311)Gtt>Ctt p.V437L CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 437 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CATCCTGCTGGTTATCTACGT 0.567000 5 61 0 0 1 0 0 ZNF491 126069 broad.mit.edu 37 19 11917376 11917376 + Missense_Mutation SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr19:11917376G>A ENST00000323169.5 + 3 939 c.608G>A c.(607-609)cGc>cAc p.R203H ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 AGTTCCTTTCGCAGACATGAA 0.438000 13 29 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62749120 62749120 + Missense_Mutation SNP A A G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr12:62749120A>G ENST00000280377.5 + 8 837 c.779A>G c.(778-780)aAc>aGc p.N260S USP15_ENST00000393654.3_Missense_Mutation_p.N235S|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.N231S NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 260 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) AGTGTGAAAAACTCAAATTAC 0.333000 10 32 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61083855 61083855 + Silent SNP A A G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr10:61083855A>G ENST00000373867.3 - 5 552 c.87T>C c.(85-87)caT>caC p.H29H FAM13C_ENST00000422313.2_Silent_p.H112H|FAM13C_ENST00000373868.2_Silent_p.H112H|FAM13C_ENST00000442566.3_Silent_p.H112H|FAM13C_ENST00000435852.2_Silent_p.H112H|FAM13C_ENST00000468840.2_Silent_p.H29H|FAM13C_ENST00000419214.2_Silent_p.H112H|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000277705.6_Silent_p.H112H NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 112 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TGGATACCACATGCTCTGTCT 0.493000 5 145 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62626273 62626273 + Missense_Mutation SNP A A G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr20:62626273A>G ENST00000535781.1 + 5 554 c.443A>G c.(442-444)aAg>aGg p.K148R ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 148 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) TTCCAGAGGAAGTTGGCAGAA 0.517000 3 32 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23400369 23400369 + Missense_Mutation SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr16:23400369G>A ENST00000307149.5 - 17 2370 c.2185C>T c.(2185-2187)Ccg>Tcg p.P729S NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 729 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) GTGCGGGACGGCTGCAGGCCC 0.622000 3 43 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63246575 63246575 + Silent SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr14:63246575G>A ENST00000322893.7 - 10 2158 c.1890C>T c.(1888-1890)gtC>gtT p.V630V KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.V572V NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 630 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TCAGTGCCCGGACGTTCGCAC 0.453000 3 48 0 0 1 0 0 CSTF1 1477 broad.mit.edu 37 20 54970613 54970613 + Missense_Mutation SNP A A T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr20:54970613A>T ENST00000217109.4 + 2 357 c.5A>T c.(4-6)tAc>tTc p.Y2F CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 2 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) TCCAAGATGTACAGAACCAAA 0.493000 3 28 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 58 0 0 1 0 0 ZNF823 55552 broad.mit.edu 37 19 11833345 11833345 + Missense_Mutation SNP T T C TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr19:11833345T>C ENST00000341191.6 - 4 1157 c.1004A>G c.(1003-1005)aAg>aGg p.K335R ZNF823_ENST00000545749.1_Missense_Mutation_p.K153R NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 CCCACATATCTTACATTTATG 0.418000 HNSCC(68;0.2) 51 66 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 7 6 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 6 6 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 7 59 --- --- --- --- SATB1 6304 broad.mit.edu 37 3 18391140 18391160 + In_Frame_Del DEL TGCTGCTGCTGCTGTTGCTGT TGCTGCTGCTGCTGTTGCTGT - TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr3:18391140_18391160delTGCTGCTGCTGCTGTTGCTGT ENST00000338745.6 - 11 3528_3548 c.1794_1814delACAGCAACAGCAGCAGCAGCA c.(1792-1815)cag>ca p.QQQQQQQQ598del SATB1_ENST00000454909.2_In_Frame_Del_p.QQQQQQQQ598del|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_In_Frame_Del_p.QQQQQQQQ630del NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 598 Poly-Gln. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TGCctgctgctgctgctgctgctgttgctgttgctgctgct 0.597 5 9 --- --- --- ---