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 ATP1A1 476 broad.mit.edu 37 1 116932301 116932301 + Missense_Mutation SNP T T G TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr1:116932301T>G ENST00000537345.1 + 8 1358 c.995T>G c.(994-996)gTg>gGg p.V332G ATP1A1_ENST00000369496.4_Missense_Mutation_p.V301G|ATP1A1_ENST00000295598.5_Missense_Mutation_p.V332G|ATP1A1_ENST00000491156.1_3'UTR NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 332 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) GTAGCCAATGTGCCGGAAGGT 0.507000 12 26 0 0 0.435327 0 0 PSG1 0 broad.mit.edu 37 19 43382240 43382240 + Silent SNP G G A rs1058959 TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr19:43382240G>A ENST00000244296.2 - 2 392 c.255C>T c.(253-255)gaC>gaT p.D85D PSG1_ENST00000595124.1_Silent_p.D85D|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Silent_p.D85D|PSG1_ENST00000436291.2_Silent_p.D85D|PSG1_ENST00000312439.6_Silent_p.D85D|PSG1_ENST00000403380.3_Silent_p.D85D NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 p.D85E(2) breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) TTATTTCACCGTCTACTACAT 0.448000 18 438 0 0 0.575678 0 0 RASGRF2 5924 broad.mit.edu 37 5 80508237 80508237 + Missense_Mutation SNP G G A TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr5:80508237G>A ENST00000265080.4 + 23 3276 c.3209G>A c.(3208-3210)cGt>cAt p.R1070H CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 1070 Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GTCAGCTCCCGTGCCAACGCC 0.542000 11 34 0 0 0.411799 0 0 C1QL2 165257 broad.mit.edu 37 2 119915192 119915192 + Silent SNP G G A TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr2:119915192G>A ENST00000272520.3 - 1 1273 c.654C>T c.(652-654)agC>agT p.S218S NM_182528.3 NP_872334.2 Q7Z5L3 C1QL2_HUMAN complement component 1, q subcomponent-like 2 218 C1q. collagen NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1) 7 CCGCCCACATGCTGGTGCCGT 0.642000 HNSCC(49;0.14) 10 28 0 0 0.361761 0 0 TWISTNB 221830 broad.mit.edu 37 7 19738204 19738204 + Missense_Mutation SNP G G C TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr7:19738204G>C ENST00000222567.5 - 4 822 c.752C>G c.(751-753)gCa>gGa p.A251G NM_001002926.1 NP_001002926.1 Q3B726 RPA43_HUMAN TWIST neighbor 251 Lys-rich. microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 AGTGTCATCTGCATCATCTGC 0.433000 10 224 0 0 0.361761 0 0 COL4A6 1288 broad.mit.edu 37 X 107417689 107417689 + Missense_Mutation SNP G G C TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chrX:107417689G>C ENST00000334504.7 - 31 3352 c.3119C>G c.(3118-3120)cCa>cGa p.P1040R COL4A6_ENST00000538570.1_Missense_Mutation_p.P1040R|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1041R|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1041R|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1040R NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1041 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TGGCATTCCTGGGAAACCTGT 0.547000 Alport syndrome with Diffuse Leiomyomatosis 11 85 0 0 0.457914 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40836233 40836233 + Nonsense_Mutation SNP C C T TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr17:40836233C>T ENST00000264638.4 + 3 566 c.349C>T c.(349-351)Cga>Tga p.R117* CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 117 F5/8 type C. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GTTCTACCAGCGAGGGCACAA 0.612000 17 134 0 0 0.557998 0 0 GRXCR1 389207 broad.mit.edu 37 4 42964970 42964970 + Missense_Mutation SNP T T C TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr4:42964970T>C ENST00000399770.2 + 2 446 c.446T>C c.(445-447)gTc>gCc p.V149A NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 149 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 CTTCGTGTGGTCCGGACAACC 0.388000 4 80 0 0 0.150653 0 0 CTNND2 1501 broad.mit.edu 37 5 11098687 11098687 + Splice_Site SNP C C T TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr5:11098687C>T ENST00000304623.8 - 15 2826 c.2637_splice c.e15+1 p.K879_splice CTNND2_ENST00000458100.2_Splice_Site_p.K446_splice|CTNND2_ENST00000511377.1_Splice_Site_p.K788_splice|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Splice_Site_p.K542_splice|CTNND2_ENST00000359640.2_Intron NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 879 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CTGGCCATACCTTCCAGCTCC 0.463000 4 62 0 0 0.150653 0 0 KTN1 0 broad.mit.edu 37 14 56139949 56139949 + Silent SNP A A G TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr14:56139949A>G ENST00000416613.1 + 39 3819 c.3747A>G c.(3745-3747)gtA>gtG p.V1249V KTN1_ENST00000438792.2_Intron|KTN1_ENST00000395314.3_Silent_p.V1249V|KTN1_ENST00000554507.1_Intron|KTN1_ENST00000395309.3_Silent_p.V1249V|KTN1_ENST00000555573.1_Intron|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000395311.1_Intron|KTN1_ENST00000413890.2_Intron Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 1249 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 CTGAAGCAGTAAGACAGAATG 0.373000 T RET papillary thryoid 3 17 0 0 0.150653 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 47 0 0 0.115264 0 0 HADHA 3030 broad.mit.edu 37 2 26457150 26457150 + Missense_Mutation SNP G G T rs75929560 TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr2:26457150G>T ENST00000380649.3 - 5 517 c.388C>A c.(388-390)Ctt>Att p.L130I HADHA_ENST00000457468.2_Missense_Mutation_p.L43I|HADHA_ENST00000461025.1_5'UTR NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 130 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) GACTTTTCAAGTTTCTCAACT 0.423000 5 79 2.0095e-06 2.32679e-06 0.248553 1 0 DNMT3A 1788 broad.mit.edu 37 2 25470535 25470535 + Nonsense_Mutation SNP C C T TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr2:25470535C>T ENST00000264709.3 - 8 1276 c.939G>A c.(937-939)tgG>tgA p.W313* DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W313*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W90*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W124* NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 313 Interaction with DNMT1 and DNMT3B.|PWWP. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGTCATCCACCAAGACACAA 0.637000 """Mis, F, N, S""" AML 7 68 0 0 0.248553 0 0 PTCHD1 139411 broad.mit.edu 37 X 23411839 23411839 + Missense_Mutation SNP A A T TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chrX:23411839A>T ENST00000379361.4 + 3 3064 c.2204A>T c.(2203-2205)gAg>gTg p.E735V NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 735 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 GTGTCCGTGGAGTTTGGAGTG 0.413000 4 78 0 0 0.217242 0 0 RPL32P3 0 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 6 129 0 0 0.307466 0 0 PRSS50 29122 broad.mit.edu 37 3 46759228 46759229 + In_Frame_Ins INS - - AGC rs143449678 by1000genomes TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr3:46759228_46759229insAGC ENST00000460241.1 - 6 1756_1757 c.86_87insGCT c.(85-87)cct>cGCTct p.29_29P>RS PRSS50_ENST00000315170.7_In_Frame_Ins_p.29_29P>RS Q9UI38 TSP50_HUMAN protease, serine, 50 29 proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity p.L32_R33insL(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 TCAGCAACAGAAGCAGCAGCAG 0.728 4 3 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 7 19 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64532708 64532709 + RNA INS - - A TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr7:64532708_64532709insA ENST00000426828.1 + 0 1228 NR_033416.1 AAATGGGGACCAAAAAAAAAAA 0.351 2 4 --- --- --- --- PMS2P4 0 broad.mit.edu 37 7 66762433 66762433 + RNA DEL A A - rs68053451 TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr7:66762433delA ENST00000414507.1 - 0 184 tctcaaaaagaaaaaaaaaaa 0.408 2 4 --- --- --- --- NPIPA8 101059953 broad.mit.edu 37 16 18441114 18441116 + Splice_Site DEL CAC CAC - TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr16:18441114_18441116delCAC ENST00000339303.5 - 1 15 c.e1+1 nuclear pore complex interacting protein family, member A8 CGGCCATACTCACCACTGGGACT 0.709 8 11 --- --- --- --- IGLV3-9 0 broad.mit.edu 37 22 23161844 23161845 + RNA DEL CC CC - rs72002333 TCGA-DJ-A2Q2-01A-11D-A19J-08 TCGA-DJ-A2Q2-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 565e656c-d5e3-4fe4-a10c-2e9ca1e498b5 a78604a5-9aa0-4d49-b007-24c54f34ea21 g.chr22:23161844_23161845delCC ENST00000390316.2 + 0 161 TGCTCATGGTCCCCTGAGGACA 0.554 5 3 --- --- --- ---