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 KIR3DL3 115653 broad.mit.edu 37 19 55247442 55247442 + Missense_Mutation SNP C C G TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr19:55247442C>G ENST00000291860.1 + 8 1130 c.1112C>G c.(1111-1113)tCt>tGt p.S371C CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron NM_153443.3 NP_703144.2 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 371 integral to membrane|plasma membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) CTCCAGGACTCTGATGAACAA 0.537000 4 155 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24655922 24655922 + Missense_Mutation SNP T T C TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr14:24655922T>C ENST00000354464.6 - 9 1008 c.832A>G c.(832-834)Aag>Gag p.K278E RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 278 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) ACCTTGCTCTTGACTTTGACC 0.493000 31 30 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29553521 29553521 + Silent SNP C C G TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr17:29553521C>G ENST00000358273.4 + 18 2453 c.2070C>G c.(2068-2070)gcC>gcG p.A690A NF1_ENST00000356175.3_Silent_p.A690A NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 690 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TAGAAGTGGCCCTGTACATGT 0.542000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 115 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29654675 29654675 + Silent SNP G G A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr17:29654675G>A ENST00000358273.4 + 38 5810 c.5427G>A c.(5425-5427)ccG>ccA p.P1809P NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Silent_p.P1788P NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1809 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGGGCACGCCGCTCACCTTCA 0.478000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 179 0 0 1 0 0 HERC2P9 0 broad.mit.edu 37 15 28900818 28900818 + RNA SNP C C T TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr15:28900818C>T ENST00000528584.1 + 0 162 NR_036443.1 CACAGCTTTGCGGGAAGGCCT 0.547000 4 127 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 5 454 0 0 1 0 0 C5orf49 134121 broad.mit.edu 37 5 7835522 7835522 + Missense_Mutation SNP T T G TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr5:7835522T>G ENST00000399810.2 - 2 705 c.237A>C c.(235-237)aaA>aaC p.K79N C5orf49_ENST00000509627.1_Missense_Mutation_p.K79N NM_001089584.2 NP_001083053.1 A4QMS7 CE049_HUMAN chromosome 5 open reading frame 49 79 large_intestine(3)|lung(5)|skin(1) 9 GTCCCAGGCTTTTTGCATGTT 0.338000 77 162 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101294550 101294550 + Missense_Mutation SNP G G A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr13:101294550G>A ENST00000342624.5 - 7 914 c.656C>T c.(655-657)gCg>gTg p.A219V TMTC4_ENST00000376234.3_Missense_Mutation_p.A200V|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.A89V NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 200 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGAAGAATGCGCTCCCTCCTT 0.468000 68 106 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138879424 138879424 + Missense_Mutation SNP T T C TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chrX:138879424T>C ENST00000370557.1 - 11 1946 c.919A>G c.(919-921)Act>Gct p.T307A ATP11C_ENST00000359686.2_Missense_Mutation_p.T310A|ATP11C_ENST00000327569.3_Missense_Mutation_p.T310A|ATP11C_ENST00000370543.1_Missense_Mutation_p.T310A|ATP11C_ENST00000361648.2_Missense_Mutation_p.T310A|ATP11C_ENST00000460773.1_5'UTR Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 310 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TTTAGAGTAGTGCATACTGCA 0.338000 89 139 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135535 156135535 + Silent SNP G G A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr4:156135535G>A ENST00000329476.3 + 2 933 c.444G>A c.(442-444)cgG>cgA p.R148R NPY2R_ENST00000506608.1_Silent_p.R148R NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 148 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CCCTGGACCGGCACAGGTGCA 0.557000 4 91 0 0 1 0 0 CTC-457E21.3 0 broad.mit.edu 37 19 22780167 22780167 + RNA SNP A A G TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr19:22780167A>G ENST00000600260.1 + 0 245 NR_033899.1 TAACCCCGAGACAACCACTTC 0.512000 35 58 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 6 137 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113684008 113684008 + Silent SNP G G A rs145304274 byFrequency TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr3:113684008G>A ENST00000295878.3 - 17 2951 c.2805C>T c.(2803-2805)aaC>aaT p.N935N NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 935 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 TGGCTCATTCGTTCACCAGAC 0.438000 12 123 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24300025 24300025 + Missense_Mutation SNP G G A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr8:24300025G>A ENST00000175238.6 + 2 175 c.92G>A c.(91-93)cGt>cAt p.R31H RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.R31H|ADAM7_ENST00000441335.2_Missense_Mutation_p.R31H NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 31 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CAACTGGTTCGTCCTAAAAAG 0.403000 6 349 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141754687 141754687 + Missense_Mutation SNP G G A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr7:141754687G>A ENST00000475668.2 + 27 3347 c.3293G>A c.(3292-3294)cGg>cAg p.R1098Q MGAM_ENST00000549489.2_Missense_Mutation_p.R1098Q O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1098 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.R1098Q(1) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAAATTCGCCGGAAGAGTACA 0.502000 4 167 0 0 1 0 0 VIM 7431 broad.mit.edu 37 10 17277216 17277216 + Missense_Mutation SNP G G A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr10:17277216G>A ENST00000544301.1 + 7 1470 c.1057G>A c.(1057-1059)Gtt>Att p.V353I VIM_ENST00000224237.5_Missense_Mutation_p.V353I NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 353 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GAACTTTGCCGTTGAAGCTGC 0.483000 4 135 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791853 42791853 + Nonsense_Mutation SNP C C T TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr19:42791853C>T ENST00000572681.2 + 6 3534 c.3466C>T c.(3466-3468)Cag>Tag p.Q1156* CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q247* Q96RK0 CIC_HUMAN capicua transcriptional repressor 247 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAAGGAGAAGCAGAAGTACCA 0.632000 """Mis, F, S""" oligodendroglioma 5 76 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 7 184 0 0 1 0 0 STAP1 26228 broad.mit.edu 37 4 68456652 68456652 + Missense_Mutation SNP C C A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr4:68456652C>A ENST00000265404.2 + 7 792 c.710C>A c.(709-711)aCt>aAt p.T237N STAP1_ENST00000396225.1_Missense_Mutation_p.T237N NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 237 SH2. cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 CAAAACTACACTATTGAACTG 0.373000 8 112 5.68852e-11 6.14728e-11 1 1 0 CETN2 1069 broad.mit.edu 37 X 151997187 151997187 + Missense_Mutation SNP T T C TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chrX:151997187T>C ENST00000370277.3 - 4 389 c.323A>G c.(322-324)aAa>aGa p.K108R CETN2_ENST00000493482.1_5'UTR NM_004344.1 NP_004335.1 P41208 CETN2_HUMAN centrin, EF-hand protein, 2 108 EF-hand 3. cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis centriole|cytosol|XPC complex ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(1)|lung(4)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CTTGAAAGCTTTCAGGATTTC 0.433000 Direct reversal of damage;Nucleotide excision repair (NER) 58 95 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 5 283 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 65 119 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19338812 19338812 + Missense_Mutation SNP C C T TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr19:19338812C>T ENST00000252575.5 + 8 2426 c.2383C>T c.(2383-2385)Cca>Tca p.P795S NCAN_ENST00000538881.1_Missense_Mutation_p.P246S NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 795 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) TGCAAGTTCCCCATCTGCCCC 0.577000 4 148 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321614 52321614 + Missense_Mutation SNP G G A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr8:52321614G>A ENST00000356297.4 - 17 2670 c.2570C>T c.(2569-2571)gCg>gTg p.A857V PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 857 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CATGCAGGGCGCGTGGGTGCC 0.682000 8 74 0 0 1 0 0 HSPA9 3313 broad.mit.edu 37 5 137895665 137895665 + Missense_Mutation SNP G G A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr5:137895665G>A ENST00000297185.3 - 11 1423 c.1298C>T c.(1297-1299)aCg>aTg p.T433M HSPA9_ENST00000501917.2_Intron NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 433 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CAGCACATCCGTGACATCGCC 0.498000 7 73 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 5 22 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47303193 47303193 + Missense_Mutation SNP A A G TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr11:47303193A>G ENST00000342922.4 + 8 1715 c.1358A>G c.(1357-1359)gAg>gGg p.E453G MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.E453G|MADD_ENST00000406482.1_Missense_Mutation_p.E453G|MADD_ENST00000402799.1_Missense_Mutation_p.E453G|MADD_ENST00000402192.2_Missense_Mutation_p.E453G|MADD_ENST00000395336.3_Missense_Mutation_p.E453G|MADD_ENST00000395344.3_Missense_Mutation_p.E453G|MADD_ENST00000349238.3_Missense_Mutation_p.E453G|MADD_ENST00000311027.5_Missense_Mutation_p.E453G NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 453 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GAGGGCCAGGAGATCCCCCTT 0.498000 9 114 0 0 1 0 0 UTP14A 10813 broad.mit.edu 37 X 129042694 129042694 + Silent SNP C C T TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chrX:129042694C>T ENST00000394422.3 + 4 250 c.222C>T c.(220-222)ttC>ttT p.F74F RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.F74F|UTP14A_ENST00000371051.5_Intron NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 74 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 TGTCAGAGTTCAATGTCAGTT 0.443000 24 550 0 0 1 0 0 TRIM51HP 0 broad.mit.edu 37 11 55065705 55065705 + RNA SNP G G A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr11:55065705G>A ENST00000526016.1 - 0 3 NR_038174.2 GATGGGACAGGTGAGTTCCCT 0.483000 4 157 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29553550 29553550 + Missense_Mutation SNP C C G TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr17:29553550C>G ENST00000358273.4 + 18 2482 c.2099C>G c.(2098-2100)aCt>aGt p.T700S NF1_ENST00000356175.3_Missense_Mutation_p.T700S NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 700 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.T700S(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AACCCTGACACTGAAGCTGTT 0.552000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 5 144 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29786175 29786175 + Missense_Mutation SNP G G T TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr12:29786175G>T ENST00000256062.5 - 6 1182 c.709C>A c.(709-711)Ctg>Atg p.L237M TMTC1_ENST00000552618.1_Missense_Mutation_p.L407M|TMTC1_ENST00000539277.1_Missense_Mutation_p.L345M|TMTC1_ENST00000381224.2_Missense_Mutation_p.L299M|TMTC1_ENST00000551659.1_Missense_Mutation_p.L407M|TMTC1_ENST00000319685.8_5'UTR NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 345 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GTCTCTACCAGAGGAATACTG 0.502000 42 69 1.57019e-19 1.72464e-19 1 1 0 CCDC135 84229 broad.mit.edu 37 16 57760786 57760786 + Missense_Mutation SNP G G A rs141535311 TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr16:57760786G>A ENST00000360716.3 + 15 2238 c.2017G>A c.(2017-2019)Gag>Aag p.E673K CCDC135_ENST00000336825.8_Missense_Mutation_p.E608K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E673K Q8IY82 CC135_HUMAN coiled-coil domain containing 135 673 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CTACCAGTACGAGGCCATGAT 0.582000 17 34 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 7 166 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168471 25168471 + RNA SNP C C T rs61946941 by1000genomes TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr13:25168471C>T ENST00000453498.1 + 0 1143 CATCTCTGTACGATGATGTGA 0.358000 4 80 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611166 179611166 + Missense_Mutation SNP C C T TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr2:179611166C>T ENST00000360870.5 - 46 16183 c.15961G>A c.(15961-15963)Gtt>Att p.V5321I TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8833 Ig-like 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTCTTTAACGTCTTTTTCA 0.363000 6 101 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 3 32 0 0 1 0 0 LGALS1 3956 broad.mit.edu 37 22 38073059 38073059 + Missense_Mutation SNP C C T TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr22:38073059C>T ENST00000215909.5 + 2 171 c.76C>T c.(76-78)Cct>Tct p.P26S LGALS1_ENST00000489315.1_3'UTR NM_002305.3 NP_002296.1 P09382 LEG1_HUMAN lectin, galactoside-binding, soluble, 1 26 Galectin. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis cytoplasm|extracellular space|proteinaceous extracellular matrix galactoside binding|signal transducer activity endometrium(1)|large_intestine(1)|lung(1) 3 Melanoma(58;0.0574) CGAGGTGGCTCCTGACGCTAA 0.657000 24 37 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90283584 90283584 + Nonsense_Mutation SNP C C T TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr9:90283584C>T ENST00000469640.2 + 19 2371 c.1996C>T c.(1996-1998)Cga>Tga p.R666* DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R666*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R666*|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R666*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R666* P53355 DAPK1_HUMAN death-associated protein kinase 1 666 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TGCAAGACTTCGAAAGGTGAG 0.423000 Chronic Lymphocytic Leukemia, Familial Clustering of 23 270 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69167987 69167987 + Missense_Mutation SNP C C T rs149196259 by1000genomes TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr3:69167987C>T ENST00000420581.2 - 2 1698 c.1519G>A c.(1519-1521)Gag>Aag p.E507K LMOD3_ENST00000489031.1_Missense_Mutation_p.E507K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E507K NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 507 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) TTGGTTTTCTCGGGTGGTTCT 0.547000 32 37 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3129656 3129656 + Missense_Mutation SNP C C A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr20:3129656C>A ENST00000380266.3 - 2 382 c.61G>T c.(61-63)Gcc>Tcc p.A21S UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 21 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 GCACCAAAGGCAGAAGGACTG 0.478000 4 162 0.150653 0.150653 1 1 0 ZDHHC24 254359 broad.mit.edu 37 11 66307297 66307297 + Splice_Site SNP T T C TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr11:66307297T>C ENST00000310442.3 - 3 794 c.e3-2 ZDHHC24_ENST00000526986.1_Intron NM_207340.1 NP_997223.1 Q6UX98 ZDH24_HUMAN zinc finger, DHHC-type containing 24 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1) 7 ACACTCTGCCTGCAATAAAAG 0.637000 15 33 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27420565 27420565 + Missense_Mutation SNP G G C TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr6:27420565G>C ENST00000211936.6 - 6 1057 c.773C>G c.(772-774)gCc>gGc p.A258G ZNF184_ENST00000377419.1_Missense_Mutation_p.A258G NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 CCGGCTGAAGGCTTTTTCACA 0.378000 27 215 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7528426 7528426 + Missense_Mutation SNP T T G TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr12:7528426T>G ENST00000313599.3 - 10 2613 c.2556A>C c.(2554-2556)aaA>aaC p.K852N CD163L1_ENST00000416109.2_Missense_Mutation_p.K862N|CD163L1_ENST00000396630.1_Missense_Mutation_p.K852N|CD163L1_ENST00000544331.1_5'UTR Q9NR16 C163B_HUMAN CD163 molecule-like 1 852 SRCR 8. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GACCATTCCCTTTTCCAAAGT 0.448000 55 91 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20761037 20761037 + Missense_Mutation SNP A A G TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr22:20761037A>G ENST00000400451.2 + 5 2228 c.1714A>G c.(1714-1716)Act>Gct p.T572A ZNF74_ENST00000405993.1_Missense_Mutation_p.T540A|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.T572A NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 572 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CTCGCACCTCACTGAGCACCA 0.542000 50 66 0 0 1 0 0 ARV1 64801 broad.mit.edu 37 1 231131566 231131567 + Frame_Shift_Ins INS - - A TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr1:231131566_231131567insA ENST00000310256.2 + 4 566_567 c.509_510insA c.(508-510)gaafs p.E170fs ARV1_ENST00000366658.2_Frame_Shift_Ins_p.E130fs|ARV1_ENST00000497753.1_3'UTR NM_022786.1 NP_073623.1 Q9H2C2 ARV1_HUMAN ARV1 homolog (S. cerevisiae) 170 sphingolipid metabolic process integral to membrane breast(3)|large_intestine(2)|lung(2) 7 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233) CCCATGACGGCAAAAAAAAAGC 0.381 7 183 --- --- --- --- CPHL1P 0 broad.mit.edu 37 3 148999032 148999033 + RNA INS - - GAA rs67798399 by1000genomes TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr3:148999032_148999033insGAA ENST00000482639.2 - 0 195 GGGAAGACACTGAACAGtaaga 0.500 2 4 --- --- --- --- RRAGD 58528 broad.mit.edu 37 6 90097209 90097210 + Frame_Shift_Del DEL AA AA - TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr6:90097209_90097210delAA ENST00000369415.4 - 2 524_525 c.248_249delTT c.(247-249)tfs p.F83fs RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Intron NM_021244.4 NP_067067.1 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 83 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) ACATTTTGTGAAAGACAACTTT 0.465 208 395 --- --- --- --- RABGEF1 27342 broad.mit.edu 37 7 66236880 66236882 + In_Frame_Del DEL GAA GAA - TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr7:66236880_66236882delGAA ENST00000439720.2 + 2 200_202 c.33_35delGAA c.(31-36)agg>ag p.RK11del KCTD7_ENST00000380828.2_5'UTR|KCTD7_ENST00000510829.2_5'UTR|RABGEF1_ENST00000450873.2_5'UTR|RABGEF1_ENST00000284957.5_5'UTR|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_5'UTR|RABGEF1_ENST00000437078.2_In_Frame_Del_p.RK12del Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 136 endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1) 27 TGGTTAGCAGGAAGAAGATGAGC 0.404 7 133 --- --- --- --- CTD-3046C4.1 0 broad.mit.edu 37 8 64322187 64322188 + RNA INS - - A rs34341678 TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr8:64322187_64322188insA ENST00000521221.1 - 0 694 TGCTCCTGGTTAAAAAAAAAAA 0.480 2 4 --- --- --- --- ZNF214 0 broad.mit.edu 37 11 7024038 7024039 + Frame_Shift_Del DEL AT AT - TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr11:7024038_7024039delAT ENST00000278314.4 - 2 343_344 c.28_29delAT c.(28-30)tfs p.I11fs ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Frame_Shift_Del_p.I11fs NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 11 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TGTAAAAATAATAGTCACATCT 0.381 60 119 --- --- --- --- CHST11 50515 broad.mit.edu 37 12 104851291 104851294 + Frame_Shift_Del DEL AAGT AAGT - TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr12:104851291_104851294delAAGT ENST00000303694.5 + 1 541_544 c.102_105delAAGT c.(100-105)cafs p.QS34fs CHST11_ENST00000549260.1_Splice_Site_p.Q34_splice|CHST11_ENST00000546689.1_Splice_Site_p.Q34_splice|CHST11_ENST00000547956.1_Frame_Shift_Del_p.QS34fs NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 34 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 TCTATTTCCAAAGTATGTTGCACC 0.520 8 294 --- --- --- --- RP11-260M19.2 0 broad.mit.edu 37 14 104706030 104706030 + RNA DEL G G - TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr14:104706030delG ENST00000555282.1 + 0 203 CCAAGGCCTTGGAGGTGGTGG 0.667 2 4 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42790954 42790955 + Frame_Shift_Del DEL TG TG - TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr19:42790954_42790955delTG ENST00000572681.2 + 3 2894_2895 c.2826_2827delTG c.(2824-2829)gctgfs p.AV942fs CIC_ENST00000575839.2_3'UTR|CIC_ENST00000160740.3_Frame_Shift_Del_p.AV33fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.AV33fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 33 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCTCTGTGGCTGTGTTCCCTTG 0.644 """Mis, F, S""" oligodendroglioma 18 52 --- --- --- --- NOVA2 4858 broad.mit.edu 37 19 46476609 46476610 + Translation_Start_Site INS - - G TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr19:46476609_46476610insG ENST00000263257.5 - 0 194_195 NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) TCGGGCTCCATGGGGGGGGCCT 0.762 3 3 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21196122 21196123 + RNA DEL AA AA - TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chr20:21196122_21196123delAA ENST00000591761.1 - 0 119 RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA TACATTAACCAAAAAAAAAAAA 0.248 3 2 --- --- --- --- XIST 0 broad.mit.edu 37 X 73061239 73061241 + RNA DEL TCT TCT - TCGA-TQ-A7RI-01A-11D-A33T-08 TCGA-TQ-A7RI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fdb7b7-7e35-48a7-a00c-a63753726d81 c8b7a13a-9f33-4121-91a7-ad79b54b9070 g.chrX:73061239_73061241delTCT ENST00000429829.1 - 0 11347_11349 NR_001564.2 AGCCAGAGACTCTTCTTTACAGC 0.394 15 65 --- --- --- ---