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 ARHGAP15 55843 broad.mit.edu 37 2 144194513 144194513 + Missense_Mutation SNP T T C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr2:144194513T>C ENST00000295095.6 + 8 772 c.605T>C c.(604-606)cTg>cCg p.L202P RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000550516.1_RNA NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 202 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TCAAGAAACCTGGAATTATTC 0.338000 7 22 0 0 0.335167 0 0 ZNF407 55628 broad.mit.edu 37 18 72344029 72344029 + Nonsense_Mutation SNP A A T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr18:72344029A>T ENST00000299687.5 + 1 1054 c.1054A>T c.(1054-1056)Aga>Tga p.R352* ZNF407_ENST00000582337.1_Nonsense_Mutation_p.R352*|ZNF407_ENST00000577538.1_Nonsense_Mutation_p.R352*|ZNF407_ENST00000309902.6_Nonsense_Mutation_p.R352* NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GATGCCTTCCAGAAATACTTT 0.393000 27 32 0 0 0.693898 0 0 ABR 29 broad.mit.edu 37 17 995058 995058 + Silent SNP G G C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr17:995058G>C ENST00000544583.2 - 4 839 c.240C>G c.(238-240)acC>acG p.T80T ABR_ENST00000302538.5_Silent_p.T126T|ABR_ENST00000574437.1_Silent_p.T80T|ABR_ENST00000291107.2_Silent_p.T89T NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 126 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CGGGCTGGGAGGTGGTGGCGG 0.567000 37 40 0 0 0.847076 0 0 RAB15 376267 broad.mit.edu 37 14 65417119 65417119 + Missense_Mutation SNP C C T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr14:65417119C>T ENST00000533601.2 - 5 675 c.338G>A c.(337-339)gGc>gAc p.G113D CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000436278.2_3'UTR|RAB15_ENST00000426039.3_Missense_Mutation_p.G67D|RAB15_ENST00000267512.5_Missense_Mutation_p.A157T P59190 RAB15_HUMAN RAB15, member RAS oncogene family 113 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 8 all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102) CTTCTGGACGCCTTCTGGTGC 0.562000 4 158 0 0 0.150653 0 0 MIR4485 100616263 broad.mit.edu 37 MT 2894 2894 + RNA SNP T T C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chrM:2894T>C ENST00000387347.2 + 0 1224 NR_039705.1 TACTATACTCAATTGATCCAA 0.453000 10 158 0 0 0.411799 0 0 VWC2 375567 broad.mit.edu 37 7 49951644 49951644 + Missense_Mutation SNP G G A TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:49951644G>A ENST00000340652.3 + 4 1397 c.841G>A c.(841-843)Gca>Aca p.A281T ZPBP_ENST00000491129.1_Intron NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 281 negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 AAACTGCTTTGCAGAAACCGC 0.388000 27 53 0 0 0.667858 0 0 TIMELESS 8914 broad.mit.edu 37 12 56815964 56815964 + Missense_Mutation SNP C C A rs147134169 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr12:56815964C>A ENST00000229201.4 - 20 2601 c.2447G>T c.(2446-2448)cGc>cTc p.R816L TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R817L NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 817 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 AGGTGCTCTGCGACTGGAAGA 0.517000 3 114 0.150653 0.159345 0.150653 1 0 OR8K3 219473 broad.mit.edu 37 11 56085955 56085955 + Missense_Mutation SNP C C T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:56085955C>T ENST00000312711.1 + 1 173 c.173C>T c.(172-174)cCt>cTt p.P58L NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TTGCAAACCCCTATGTACTTT 0.398000 31 68 0 0 0.760397 0 0 TTC37 9652 broad.mit.edu 37 5 94834211 94834211 + Silent SNP T T C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr5:94834211T>C ENST00000358746.2 - 33 3724 c.3426A>G c.(3424-3426)aaA>aaG p.K1142K NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1142 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TAAGTGCTGCTTTTGACAGTG 0.433000 18 19 0 0 0.520397 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 5 20 0 0 0.217242 0 0 MTMR7 9108 broad.mit.edu 37 8 17218660 17218660 + Missense_Mutation SNP T T C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:17218660T>C ENST00000180173.5 - 4 468 c.434A>G c.(433-435)tAc>tGc p.Y145C MTMR7_ENST00000521857.1_Missense_Mutation_p.Y145C NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 145 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) GAGCTGCCAGTAATGATTAGG 0.478000 33 31 0 0 0.804634 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101599390 101599390 + Silent SNP T T C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr5:101599390T>C ENST00000310954.6 - 4 1183 c.897A>G c.(895-897)gaA>gaG p.E299E NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 299 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TGCCTTGCCTTTCTCCCATAG 0.368000 18 84 0 0 0.557998 0 0 KIAA1244 57221 broad.mit.edu 37 6 138599605 138599605 + Missense_Mutation SNP G G A TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr6:138599605G>A ENST00000251691.4 + 13 2312 c.2146G>A c.(2146-2148)Ggc>Agc p.G716S NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 716 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GCACTCTCCTGGCTTTGACGG 0.562000 4 126 0 0 0.184627 0 0 CCR1 1230 broad.mit.edu 37 3 46245248 46245248 + Missense_Mutation SNP T T C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr3:46245248T>C ENST00000296140.3 - 2 682 c.557A>G c.(556-558)cAc>cGc p.H186R CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 186 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GTGAGGAAAGTGAAGGCTGCA 0.498000 55 92 0 0 0.870114 0 0 ZNF157 7712 broad.mit.edu 37 X 47271877 47271877 + Silent SNP A A G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chrX:47271877A>G ENST00000377073.3 + 4 491 c.405A>G c.(403-405)gaA>gaG p.E135E NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 135 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 AAAATGTTGAATATAATGGAT 0.408000 3 42 0 0 0.115264 0 0 TUFM 7284 broad.mit.edu 37 16 28856763 28856763 + Missense_Mutation SNP C C T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr16:28856763C>T ENST00000313511.3 - 3 424 c.286G>A c.(286-288)Gag>Aag p.E96K NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 93 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 TCAATCTCCTCGTACTTCTTG 0.542000 4 62 0 0 0.150653 0 0 RYR2 6262 broad.mit.edu 37 1 237617717 237617717 + Missense_Mutation SNP C C T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:237617717C>T ENST00000366574.2 + 15 1636 c.1319C>T c.(1318-1320)gCg>gTg p.A440V RYR2_ENST00000542537.1_Missense_Mutation_p.A424V|RYR2_ENST00000360064.6_Missense_Mutation_p.A438V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 440 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGCAAGAAAGCGAAGGCTTCC 0.403000 4 64 0 0 0.184627 0 0 KRT6A 3853 broad.mit.edu 37 12 52881586 52881586 + Missense_Mutation SNP C C G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr12:52881586C>G ENST00000330722.6 - 9 1681 c.1613G>C c.(1612-1614)gGc>gCc p.G538A NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 538 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) AGAGCTGAGGCCACCCCCAAT 0.577000 3 115 0 0 0.335167 0 0 PDE4D 5144 broad.mit.edu 37 5 59064159 59064159 + Silent SNP A A T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr5:59064159A>T ENST00000507116.1 - 1 312 c.177T>A c.(175-177)tcT>tcA p.S59S PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Silent_p.S59S|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000340635.6_Intron NM_001197218.1 NP_001184147.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 Pro-rich. signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) AATTTCTCGGAGAGATCACTG 0.517000 19 70 0 0 0.575678 0 0 THAP4 51078 broad.mit.edu 37 2 242572968 242572968 + Missense_Mutation SNP C C T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr2:242572968C>T ENST00000407315.1 - 2 1035 c.604G>A c.(604-606)Gcc>Acc p.A202T NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 202 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) GAGGAAGTGGCGCTCTCATCG 0.567000 26 29 0 0 0.706142 0 0 RNF115 27246 broad.mit.edu 37 1 145611303 145611303 + Missense_Mutation SNP T T C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:145611303T>C ENST00000369291.4 + 1 268 c.64T>C c.(64-66)Tgc>Cgc p.C22R NM_014455.2 NP_055270.1 Q9Y4L5 RN115_HUMAN ring finger protein 115 22 protein autoubiquitination cytosol protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 CCGGTTTTTCTGCCACTTTTG 0.647000 4 6 0 0 0.217242 0 0 STAB2 55576 broad.mit.edu 37 12 104100638 104100638 + Silent SNP C C G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr12:104100638C>G ENST00000388887.2 + 38 4269 c.4065C>G c.(4063-4065)gtC>gtG p.V1355V NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1355 Laminin EGF-like 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCCAGAATGTCTGCTTTGGTA 0.572000 9 18 0 0 0.335167 0 0 KIAA1109 84162 broad.mit.edu 37 4 123192337 123192337 + Missense_Mutation SNP A A G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:123192337A>G ENST00000264501.4 + 47 8031 c.7658A>G c.(7657-7659)cAc>cGc p.H2553R KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2553R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2553R Q2LD37 K1109_HUMAN KIAA1109 2553 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AACACCTTTCACTGCAACTTT 0.408000 4 118 0 0 0.150653 0 0 SUZ12P1 440423 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 5 51 0 0 0.184627 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643082 1643082 + Missense_Mutation SNP T T C rs59610171 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:1643082T>C ENST00000399682.1 - 1 286 c.242A>G c.(241-243)tAt>tGt p.Y81C NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 81 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ACAAGAGCCATAGCCCCCCTT 0.657000 4 57 0 0 0.335167 0 0 BMS1 9790 broad.mit.edu 37 10 43292900 43292900 + Missense_Mutation SNP G G A TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr10:43292900G>A ENST00000374518.4 + 11 2081 c.2018G>A c.(2017-2019)aGa>aAa p.R673K NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 673 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GACCTTTCCAGAAAGGCAGCT 0.488000 5 211 0 0 0.217242 0 0 TM4SF20 79853 broad.mit.edu 37 2 228243870 228243870 + Missense_Mutation SNP G G T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr2:228243870G>T ENST00000304568.3 - 1 152 c.115C>A c.(115-117)Caa>Aaa p.Q39K NM_024795.3 NP_079071.2 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 39 integral to membrane|plasma membrane breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2) 10 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) TGAGAAAATTGGTCTTCCTCA 0.433000 3 39 0.115264 0.124304 0.115264 1 0 MUC16 94025 broad.mit.edu 37 19 9018158 9018158 + Missense_Mutation SNP A A G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr19:9018158A>G ENST00000397910.4 - 25 37983 c.37780T>C c.(37780-37782)Tct>Cct p.S12594P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12596 SEA 4. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGCAGCCAGAGTACAGAAGG 0.537000 4 414 0 0 0.248553 0 0 SLIT2 9353 broad.mit.edu 37 4 20618585 20618585 + Silent SNP C C T rs141395818 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:20618585C>T ENST00000504154.1 + 35 4152 c.3900C>T c.(3898-3900)aaC>aaT p.N1300N SLIT2_ENST00000503837.1_Silent_p.N1296N|SLIT2_ENST00000503823.1_Silent_p.N1292N|SLIT2_ENST00000273739.5_Silent_p.N1313N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1300 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CTGGGCAGAACGGAACCAGCT 0.582000 22 24 0 0 0.624587 0 0 SBF1 6305 broad.mit.edu 37 22 50904394 50904394 + Missense_Mutation SNP C C T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr22:50904394C>T ENST00000380817.2 - 9 1190 c.1007G>A c.(1006-1008)aGc>aAc p.S336N SBF1_ENST00000390679.3_Missense_Mutation_p.S336N|SBF1_ENST00000348911.6_Missense_Mutation_p.S337N NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 336 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CCTCACCATGCTCAGCACACT 0.622000 23 34 0 0 0.624587 0 0 PCLO 27445 broad.mit.edu 37 7 82784289 82784289 + Silent SNP T T C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:82784289T>C ENST00000423517.2 - 2 2005 c.1668A>G c.(1666-1668)aaA>aaG p.K556K PCLO_ENST00000333891.8_Silent_p.K556K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 502 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTACTGGTTTTGTAGATT 0.527000 3 125 0 0 0.115264 0 0 MUSK 4593 broad.mit.edu 37 9 113445034 113445034 + Missense_Mutation SNP T T C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr9:113445034T>C ENST00000416899.2 + 2 286 c.160T>C c.(160-162)Tac>Cac p.Y54H MUSK_ENST00000189978.5_Missense_Mutation_p.Y54H|MUSK_ENST00000374448.4_Missense_Mutation_p.Y54H|MUSK_ENST00000374440.3_5'UTR O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 54 Ig-like 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 AGTGGAATCCTACCCCCAGCC 0.383000 47 59 0 0 0.870114 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418903 105418903 + Missense_Mutation SNP G G C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr14:105418903G>C ENST00000333244.5 - 7 3004 c.2885C>G c.(2884-2886)cCc>cGc p.P962R AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 962 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTCCATGCTGGGCAGAGACAC 0.637000 18 28 0 0 0.575678 0 0 MKI67 4288 broad.mit.edu 37 10 129904895 129904895 + Missense_Mutation SNP A A C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr10:129904895A>C ENST00000368654.3 - 13 5584 c.5209T>G c.(5209-5211)Tac>Gac p.Y1737D MKI67_ENST00000368653.3_Missense_Mutation_p.Y1377D NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1737 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GAAGCTCTGTAGGATACTTTG 0.483000 4 48 0 0 0.150653 0 0 C2CD5 9847 broad.mit.edu 37 12 22606881 22606881 + Silent SNP G G C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr12:22606881G>C ENST00000333957.4 - 24 3075 c.2820C>G c.(2818-2820)gtC>gtG p.V940V C2CD5_ENST00000396028.2_Silent_p.V982V|C2CD5_ENST00000542676.1_Silent_p.V991V|C2CD5_ENST00000545552.1_Silent_p.V994V|C2CD5_ENST00000544930.1_Silent_p.V796V|C2CD5_ENST00000446597.1_Silent_p.V991V|C2CD5_ENST00000536386.1_Silent_p.V993V NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 TTATGTAGGAGACAACAGCAT 0.413000 30 46 0 0 0.750413 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606210 1606210 + Silent SNP G G A TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:1606210G>A ENST00000382171.2 - 1 303 c.270C>T c.(268-270)ggC>ggT p.G90G KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 90 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCACAAGAGCCACAGCCCC 0.667000 4 34 0 0 0.217242 0 0 RAD54L2 23132 broad.mit.edu 37 3 51679626 51679626 + Silent SNP A A G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr3:51679626A>G ENST00000409535.1 + 17 2801 c.2676A>G c.(2674-2676)ctA>ctG p.L892L RAD54L2_ENST00000296477.3_Silent_p.L586L NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 892 Helicase C-terminal. nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TGGATGATCTAAATCCAATGC 0.423000 21 22 0 0 0.608945 0 0 PRKDC 5591 broad.mit.edu 37 8 48817536 48817536 + Splice_Site SNP C C A TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:48817536C>A ENST00000314191.2 - 26 2991 c.2934_splice c.e26-1 p.V979_splice PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Splice_Site_p.V979_splice NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 979 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGCCTTGTCACCTGAAGAAAC 0.358000 Non-homologous end-joining 6 57 0.00116845 0.00128529 0.217242 1 0 DNAH11 8701 broad.mit.edu 37 7 21912976 21912976 + Missense_Mutation SNP G G T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:21912976G>T ENST00000328843.6 + 75 12104 c.12073G>T c.(12073-12075)Gtt>Ttt p.V4025F DNAH11_ENST00000409508.3_Missense_Mutation_p.V4018F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4025 AAA 6 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGATTACAGGGTTTTCATGAG 0.458000 Kartagener syndrome 4 23 2.56e-06 2.93333e-06 0.150653 1 0 TRPV1 7442 broad.mit.edu 37 17 3475527 3475527 + Missense_Mutation SNP A A C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr17:3475527A>C ENST00000174621.6 - 13 2403 c.2114T>G c.(2113-2115)cTg>cGg p.L705R TRPV1_ENST00000399759.3_Missense_Mutation_p.L707R|TRPV1_ENST00000310522.5_Missense_Mutation_p.L647R|TRPV1_ENST00000425167.2_Missense_Mutation_p.L718R|TRPV1_ENST00000571088.1_Missense_Mutation_p.L707R|SHPK_ENST00000572705.1_Missense_Mutation_p.L707R|TRPV1_ENST00000399756.4_Missense_Mutation_p.L707R|TRPV1_ENST00000576351.1_Missense_Mutation_p.L697R Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 707 AD (By similarity). cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CTCCGTGTCCAGGATGGTGAT 0.622000 11 12 0 0 0.387290 0 0 CCDC113 29070 broad.mit.edu 37 16 58301478 58301478 + Silent SNP A A G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr16:58301478A>G ENST00000219299.4 + 7 958 c.879A>G c.(877-879)ctA>ctG p.L293L CCDC113_ENST00000443128.2_Silent_p.L239L NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 293 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 AAGAAACACTACAAGTAGAGG 0.403000 5 65 0 0 0.184627 0 0 PADI6 353238 broad.mit.edu 37 1 17723476 17723477 + RNA INS - - CA rs67024576 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:17723476_17723477insCA ENST00000434762.2 + 0 1669 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGGAATGCACCCAGGTGGCTGG 0.629 6 5 --- --- --- --- UBXN11 91544 broad.mit.edu 37 1 26608878 26608883 + In_Frame_Del DEL CCGGGA CCGGGA - rs1134580 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:26608878_26608883delCCGGGA ENST00000314675.7 - 11 1189_1194 c.1110_1115delTCCCGG c.(1108-1116)ggc>gg p.GPG370del UBXN11_ENST00000374217.2_In_Frame_Del_p.GPG457del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPG457del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPG247del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPG490del NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 490 cytoplasm|cytoskeleton p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gggactggggccgggaccgggaccgg 0.718 21 37 --- --- --- --- LOC101928460 101928460 broad.mit.edu 37 1 29667679 29667679 + RNA DEL G G - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:29667679delG ENST00000417651.1 - 0 432 ttttttttttgttttgttttg 0.438 2 4 --- --- --- --- RP11-575B7.3 0 broad.mit.edu 37 1 60602717 60602717 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:60602717delT ENST00000456878.1 + 0 99 acttctggcatttttttggtc 0.313 2 4 --- --- --- --- RP11-335E6.2 0 broad.mit.edu 37 1 63605516 63605516 + RNA DEL C C - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:63605516delC ENST00000455038.1 + 0 248 ccaaactcttcccCATGAAGC 0.448 2 4 --- --- --- --- GNG12-AS1 100289178 broad.mit.edu 37 1 68552826 68552827 + RNA INS - - A rs111704385 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:68552826_68552827insA ENST00000420587.1 + 0 325 GNG12-AS1_ENST00000413628.1_RNA NR_040077.1 Q6ZVV5 Q6ZVV5_HUMAN gcacttaaAGTAAAAAAAAAAA 0.351 5 1 --- --- --- --- RP4-651E10.4 0 broad.mit.edu 37 1 87099809 87099809 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:87099809delT ENST00000456587.1 - 0 294 GAAAGTATGATAAATGTGTTC 0.388 2 4 --- --- --- --- RP4-543J13.1 0 broad.mit.edu 37 1 114764151 114764153 + RNA DEL AAA AAA - rs10564852 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:114764151_114764153delAAA ENST00000420156.2 - 0 73 taaaaataccaaaaaaaaaaaaa 0.473 2 4 --- --- --- --- RP11-417J8.1 0 broad.mit.edu 37 1 142557049 142557049 + RNA DEL G G - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:142557049delG ENST00000445662.1 + 0 204 ACCTACTGGTGGGTGAGCATG 0.433 2 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142642817 142642818 + RNA INS - - T rs71249303 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:142642817_142642818insT ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA GTTTTCTTGGGTTTTTTTTTTT 0.342 7 4 --- --- --- --- LINC00970 101978719 broad.mit.edu 37 1 168941795 168941798 + RNA DEL AGAT AGAT - rs71759007 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:168941795_168941798delAGAT ENST00000366408.3 - 0 209 agatatagacagatagatagatag 0.387 2 4 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222524267 222524268 + RNA INS - - C rs113229543 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:222524267_222524268insC ENST00000416510.1 - 0 167 ttcaaaaattttttaaacaaat 0.317 2 4 --- --- --- --- TMEM78 677790 broad.mit.edu 37 1 229385706 229385707 + Frame_Shift_Del DEL TC TC - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:229385706_229385707delTC ENST00000323223.2 + 1 324_325 c.265_266delTC c.(265-267)tfs p.S89fs transmembrane protein 78 tttctttctttctctctctctc 0.455 2 4 --- --- --- --- LINC01341 149134 broad.mit.edu 37 1 246948627 246948628 + RNA DEL CA CA - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr1:246948627_246948628delCA ENST00000421003.1 + 0 1439 RP11-439E19.3_ENST00000505748.1_RNA|RP11-439E19.8_ENST00000451123.1_RNA cacacacttgcacacacacaca 0.490 2 4 --- --- --- --- LINC00486 285045 broad.mit.edu 37 2 33112433 33112433 + RNA DEL A A - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr2:33112433delA ENST00000414054.1 + 0 289 NR_027098.1 tctgtcagctaaaagggccta 0.363 2 4 --- --- --- --- LOC442028 442028 broad.mit.edu 37 2 95563427 95563428 + RNA INS - - C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr2:95563427_95563428insC ENST00000568768.1 - 0 476 gggggtgtgcacccccccgtgg 0.465 2 4 --- --- --- --- LOC102724691 102724691 broad.mit.edu 37 2 105630541 105630542 + RNA INS - - T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr2:105630541_105630542insT ENST00000456519.1 - 0 43 ctggtcctggattttttttctt 0.351 2 4 --- --- --- --- LOC101929231 101929231 broad.mit.edu 37 2 150471773 150471773 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr2:150471773delT ENST00000449714.1 + 0 655 ATGCATTTTCTTTTTTTTTTA 0.264 2 4 --- --- --- --- LOC101927156 101927156 broad.mit.edu 37 2 182088458 182088458 + RNA DEL A A - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr2:182088458delA ENST00000435411.1 + 0 144 TACGCAACATAAAGGGCTAGA 0.308 2 4 --- --- --- --- AC007563.3 0 broad.mit.edu 37 2 217666002 217666003 + RNA INS - - TT rs147142548 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr2:217666002_217666003insTT ENST00000434973.1 + 0 78 AC007563.5_ENST00000447289.1_RNA TGAATAAAATATTTTTTTTGCT 0.307 4 2 --- --- --- --- RP11-761N21.1 0 broad.mit.edu 37 3 40817178 40817179 + RNA DEL GC GC - rs668680 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr3:40817178_40817179delGC ENST00000412811.1 + 0 265 gtgtgtgtgtgCGCGCATTTga 0.475 2 4 --- --- --- --- LOC102724297 102724297 broad.mit.edu 37 3 46447370 46447370 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr3:46447370delT ENST00000451485.1 - 0 163 ctccttcttcttttttttttc 0.512 2 4 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84761953 84761953 + RNA DEL A A - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr3:84761953delA ENST00000484892.1 - 0 1846 NR_033860.1 caacaaacataaaaaaaaatg 0.313 3 6 --- --- --- --- LOC101927056 101927056 broad.mit.edu 37 3 125598570 125598571 + RNA INS - - A rs72587482 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr3:125598570_125598571insA ENST00000468859.1 - 0 1456 ctgtctcaaacaaaaaaaaaag 0.401 2 4 --- --- --- --- RP11-167H9.5 0 broad.mit.edu 37 3 149939923 149939924 + RNA DEL GT GT - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr3:149939923_149939924delGT ENST00000474444.1 - 0 304 gtgtgagACAgtgtgtgtgtgt 0.465 2 4 --- --- --- --- RP11-23D24.2 0 broad.mit.edu 37 3 153234077 153234077 + RNA DEL C C - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr3:153234077delC ENST00000493214.2 - 0 381 gatttacattcccaccaacag 0.393 2 4 --- --- --- --- SH3TC1 54436 broad.mit.edu 37 4 8229060 8229061 + Frame_Shift_Ins INS - - G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:8229060_8229061insG ENST00000539824.1 + 12 1785_1786 c.1411_1412insG c.(1411-1413)gggfs p.G471fs SH3TC1_ENST00000245105.3_Frame_Shift_Ins_p.G547fs|SH3TC1_ENST00000514274.1_3'UTR Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 547 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GGCACAGGCCCGGGGGGCGGCC 0.698 2 4 --- --- --- --- TAPT1-AS1 202020 broad.mit.edu 37 4 16258629 16258629 + RNA DEL A A - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:16258629delA ENST00000570786.1 + 0 984 TAPT1-AS1_ENST00000573950.1_RNA NR_027696.1 caaccaccctaaaaaagcatt 0.358 2 4 --- --- --- --- RP11-556I14.2 0 broad.mit.edu 37 4 105714445 105714445 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:105714445delT ENST00000515127.1 - 0 366 ACCTATACCCTTTAAGGAAAT 0.378 2 4 --- --- --- --- RP11-125O18.1 0 broad.mit.edu 37 4 128323486 128323489 + RNA DEL TGGA TGGA - rs33965706 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:128323486_128323489delTGGA ENST00000504050.1 - 0 333 TATCTTTAACtggatggatggatg 0.422 2 4 --- --- --- --- RP11-371F15.3 0 broad.mit.edu 37 4 139759296 139759296 + RNA DEL A A - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:139759296delA ENST00000507038.1 - 0 303 RP11-371F15.3_ENST00000511951.1_RNA GAGCGGTGGGAAAAGATGAGA 0.473 2 4 --- --- --- --- CTB-191D16.1 0 broad.mit.edu 37 4 149862871 149862871 + RNA DEL A A - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:149862871delA ENST00000504394.1 - 0 160 GATGACATACAAAGAAAATTC 0.358 2 4 --- --- --- --- RP11-526A4.1 0 broad.mit.edu 37 4 150611570 150611571 + RNA INS - - G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:150611570_150611571insG ENST00000511993.1 - 0 817 RP11-707F2.1_ENST00000505781.1_lincRNA tttggggacttggggggaaagg 0.450 2 4 --- --- --- --- RP11-73G16.2 0 broad.mit.edu 37 4 152853892 152853893 + RNA INS - - TG TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:152853892_152853893insTG ENST00000507949.1 + 0 176 CTGCTGTTTCTtgtgtgtgtgc 0.421 3 5 --- --- --- --- RP11-242J7.1 0 broad.mit.edu 37 4 185536410 185536413 + RNA DEL TTTG TTTG - rs146473442 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:185536410_185536413delTTTG ENST00000522554.1 - 0 292 CAAAGCCGATtttgtttgtttgtt 0.451 2 4 --- --- --- --- RP11-706F1.2 0 broad.mit.edu 37 4 190211024 190211025 + RNA INS - - A rs11463453 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:190211024_190211025insA ENST00000504057.1 - 0 158 gactccgtctcaaaaaaaaaag 0.525 3 3 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190825682 190825683 + RNA INS - - T rs138468383 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr4:190825682_190825683insT ENST00000511785.1 - 0 231 AACTACTGTGATATTTTTTAGA 0.347 5 9 --- --- --- --- LINC01020 340094 broad.mit.edu 37 5 5043459 5043460 + RNA DEL AG AG - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr5:5043459_5043460delAG ENST00000508201.1 + 0 308 aaagaaagaaagagagagagag 0.416 3 3 --- --- --- --- FLJ33360 401172 broad.mit.edu 37 5 6311282 6311283 + RNA INS - - A TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr5:6311282_6311283insA ENST00000507444.1 - 0 1689_1690 NR_028351.1 actaaaaatacaaaaattagcc 0.540 2 4 --- --- --- --- RP11-122F24.1 0 broad.mit.edu 37 5 7004483 7004484 + RNA DEL GT GT - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr5:7004483_7004484delGT ENST00000512838.1 + 0 69 GAACgtgtgcgtgtgtgtgtgt 0.401 2 4 --- --- --- --- LOC100653061 100653061 broad.mit.edu 37 5 34182134 34182134 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr5:34182134delT ENST00000514048.1 - 0 231 ataaaaaggattttttttttt 0.512 3 6 --- --- --- --- MEF2C-AS1 101929423 broad.mit.edu 37 5 88442496 88442496 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr5:88442496delT ENST00000512585.1 + 0 202 MEF2C-AS1_ENST00000514571.1_RNA|MEF2C-AS1_ENST00000514092.1_RNA aaagcatttatttacatcagt 0.318 2 4 --- --- --- --- RP11-114J13.1 0 broad.mit.edu 37 5 125423356 125423357 + RNA INS - - A TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr5:125423356_125423357insA ENST00000450613.2 - 0 226 ataattgtcagaaaaaccaagg 0.446 2 4 --- --- --- --- PCDHGC3 5098 broad.mit.edu 37 5 140857727 140857728 + Frame_Shift_Ins INS - - C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr5:140857727_140857728insC ENST00000308177.3 + 1 2148_2149 c.2044_2045insC c.(2044-2046)cccfs p.P682fs PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGGCTCTGCCCCCCGGGAG 0.515 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 102 --- --- --- --- RP3-380B8.4 0 broad.mit.edu 37 6 5870254 5870254 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr6:5870254delT ENST00000454882.2 + 0 231 TGAGAAACTCTTTTTTTTTTT 0.423 2 4 --- --- --- --- LY86-AS1 285780 broad.mit.edu 37 6 6579463 6579464 + RNA DEL TG TG - rs67625717 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr6:6579463_6579464delTG ENST00000435641.1 - 0 388 LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA ACAGTATGATtgtgtgtgtgtg 0.312 2 4 --- --- --- --- LOC101929006 101929006 broad.mit.edu 37 6 29205088 29205088 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr6:29205088delT ENST00000441381.1 + 0 79 tgctgtatccttttttttttt 0.453 2 4 --- --- --- --- RP11-436D23.1 0 broad.mit.edu 37 6 98403235 98403236 + RNA DEL TG TG - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr6:98403235_98403236delTG ENST00000607823.1 + 0 206 cataagtatatgtgtgtgtgtg 0.282 2 4 --- --- --- --- NPSR1-AS1 404744 broad.mit.edu 37 7 34626734 34626734 + RNA DEL A A - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:34626734delA ENST00000419766.1 - 0 160 NR_033664.1|NR_033665.1 ttcttagtgtaaatgccctaa 0.428 2 4 --- --- --- --- LINC00174 285908 broad.mit.edu 37 7 65848930 65848931 + RNA INS - - G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:65848930_65848931insG ENST00000421767.1 - 0 547 NR_026873.1 TACTTTTTTTTGGGGGGGAAAC 0.401 2 4 --- --- --- --- FAM185BP 641808 broad.mit.edu 37 7 76748904 76748911 + RNA DEL ACTTCTAC ACTTCTAC - rs72155106 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:76748904_76748911delACTTCTAC ENST00000459742.1 + 0 58 AATACTTTGAACTTCTACACAGCCAGAC 0.341 2 4 --- --- --- --- RP4-604G5.1 0 broad.mit.edu 37 7 99530402 99530403 + RNA INS - - G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:99530402_99530403insG ENST00000456499.1 + 0 327 TTGTAAGTCTAGGGGGGGTGTC 0.505 3 5 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100367089 100367089 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:100367089delT ENST00000542585.1 + 0 5301 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) tttttttttcttttcttttct 0.428 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100385562 100385596 + RNA DEL GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT - rs68029369 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT ENST00000542585.1 + 0 7176_7210 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACATTTGACGGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATGTTCTGATCA 0.583 10 24 --- --- --- --- RP11-736E3.1 0 broad.mit.edu 37 7 112776433 112776434 + RNA DEL TG TG - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:112776433_112776434delTG ENST00000441928.1 + 0 273 tgtgtgtgtatgtgtgtgtgtg 0.337 2 4 --- --- --- --- RP11-736E3.1 0 broad.mit.edu 37 7 112785004 112785004 + RNA DEL A A - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:112785004delA ENST00000441928.1 + 0 273 ACTGCATTGTAATCACTTTCC 0.433 2 4 --- --- --- --- EPHA1-AS1 285965 broad.mit.edu 37 7 143140116 143140116 + RNA DEL C C - rs113039494 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr7:143140116delC ENST00000429289.1 + 0 206 NR_033897.1 ataacaatcacccCCCCCCCG 0.537 2 4 --- --- --- --- CTD-2281E23.3 0 broad.mit.edu 37 8 1197072 1197073 + RNA INS - - A TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:1197072_1197073insA ENST00000517950.1 - 0 308_309 TCAGTGTGTGGAGTGATGGTCC 0.569 4 2 --- --- --- --- FAM183CP 286135 broad.mit.edu 37 8 29806992 29806992 + RNA DEL A A - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:29806992delA ENST00000521245.1 + 0 1116 NR_024473.1 ttcccaccacaaaaaaaaatc 0.328 2 4 --- --- --- --- LINC01288 103689844 broad.mit.edu 37 8 34653311 34653311 + RNA DEL A A - rs77645907 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:34653311delA ENST00000519189.1 + 0 253 GCCCTATGAGAAAAAATATAT 0.338 4 3 --- --- --- --- LOC102724623 102724623 broad.mit.edu 37 8 64811382 64811383 + RNA INS - - T rs71257221 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:64811382_64811383insT ENST00000524360.1 - 0 195 RP11-32K4.1_ENST00000521958.1_RNA|RP11-32K4.1_ENST00000523191.1_RNA TTCTCAGAGTGTTTTTTTTTTT 0.322 2 4 --- --- --- --- LOC102724623 102724623 broad.mit.edu 37 8 65183528 65183529 + RNA INS - - C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:65183528_65183529insC ENST00000521958.1 - 0 218 RP11-32K4.1_ENST00000523191.1_RNA GCCATCTTAAGCCCCTATCCTT 0.386 2 4 --- --- --- --- CTB-118P15.2 0 broad.mit.edu 37 8 89023370 89023370 + RNA DEL T T - rs112506915 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:89023370delT ENST00000518129.1 + 0 471 tcttttactgttttttttttt 0.483 3 3 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89731214 89731214 + RNA DEL A A - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:89731214delA ENST00000521936.1 + 0 59 agtgagagctaaacatagagt 0.378 2 4 --- --- --- --- LOC101929709 101929709 broad.mit.edu 37 8 90750192 90750193 + RNA INS - - A TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:90750192_90750193insA ENST00000504145.1 - 0 667 aaatactaaggaaaaaaaaaaa 0.351 2 4 --- --- --- --- KB-1615E4.2 0 broad.mit.edu 37 8 101513162 101513163 + RNA INS - - A rs113522413 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:101513162_101513163insA ENST00000523831.1 + 0 147 TGTTGACCAGGAAAAAAAAAAG 0.401 3 3 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130473971 130473971 + RNA DEL C C - rs140982449 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:130473971delC ENST00000446592.3 - 0 360 acactcacaacctttgagctc 0.393 3 3 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130486240 130486241 + RNA INS - - GCTTAACATG rs146923907 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:130486240_130486241insGCTTAACATG ENST00000446592.3 - 0 360 ggctcagctcagcttaacatgg 0.545 2 4 --- --- --- --- RP11-513H8.1 0 broad.mit.edu 37 8 135255506 135255507 + RNA DEL AG AG - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:135255506_135255507delAG ENST00000523317.1 - 0 84 aggaggagaaagaggagaagga 0.554 2 4 --- --- --- --- LOC401478 401478 broad.mit.edu 37 8 138861175 138861176 + RNA INS - - A rs112337316 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:138861175_138861176insA ENST00000518973.1 - 0 514 aggactctgtcaaaaaaaaaaa 0.550 2 4 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142477454 142477463 + RNA DEL CCTGGCCCTT CCTGGCCCTT - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:142477454_142477463delCCTGGCCCTT ENST00000430863.1 - 0 2403 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CCCTCCGCCCcctggcccttcctggccctt 0.671 3 5 --- --- --- --- CYHR1 50626 broad.mit.edu 37 8 145689658 145689659 + Frame_Shift_Ins INS - - C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr8:145689658_145689659insC ENST00000403000.2 - 2 1017_1018 c.430_431insG c.(430-432)gatfs p.D144fs CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000438911.2_Intron|CYHR1_ENST00000424149.2_Frame_Shift_Ins_p.D144fs|CYHR1_ENST00000306145.5_Frame_Shift_Ins_p.D144fs NM_032687.3 NP_116076.1 Q6ZMK1 CYHR1_HUMAN cysteine/histidine-rich 1 0 perinuclear region of cytoplasm zinc ion binding p.A144fs*>50(1) haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2) 7 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) ACCCAGCATCGCCCCCCCCCAC 0.634 OREG0019056 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 19 --- --- --- --- RFX3-AS1 101929302 broad.mit.edu 37 9 3612241 3612242 + RNA INS - - C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr9:3612241_3612242insC ENST00000423112.2 + 0 394 tcatagaggtacccccttcttg 0.460 2 4 --- --- --- --- RP11-311H10.4 0 broad.mit.edu 37 9 33408939 33408940 + RNA INS - - T rs7039308 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr9:33408939_33408940insT ENST00000450864.1 + 0 286 CGGGTCTTAACttttttttttt 0.460 2 4 --- --- --- --- LINC01501 340515 broad.mit.edu 37 9 93249296 93249297 + RNA DEL GA GA - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr9:93249296_93249297delGA ENST00000449990.1 - 0 647 NR_034157.1 TCTAACATGGGAGAGAGAGAGA 0.460 3 3 --- --- --- --- RP11-202G18.1 0 broad.mit.edu 37 9 113980711 113980712 + RNA DEL TG TG - rs57483257 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr9:113980711_113980712delTG ENST00000426204.1 - 0 370 AATGGTCTTTtgtgtgtgtgtg 0.460 2 4 --- --- --- --- RP11-343J18.2 0 broad.mit.edu 37 9 128892677 128892678 + RNA INS - - G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr9:128892677_128892678insG ENST00000441473.1 + 0 235 ATCCATTCTATGGGGGCCTGGG 0.525 2 4 --- --- --- --- ABO 28 broad.mit.edu 37 9 136139908 136139915 + RNA DEL AAACTGCC AAACTGCC - rs8176680 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr9:136139908_136139915delAAACTGCC ENST00000453660.2 - 0 40 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) actttgtaagaaactgccaaactgtgtt 0.409 3 4 --- --- --- --- LOC101929352 101929352 broad.mit.edu 37 10 31477004 31477005 + RNA INS - - G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr10:31477004_31477005insG ENST00000605929.1 + 0 193_194 TCAAAGGCTGAGGGGGCAGGTG 0.663 2 4 --- --- --- --- DNHD1 144132 broad.mit.edu 37 11 6567895 6567896 + In_Frame_Ins INS - - TGCCCTACTGCA rs35685553 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:6567895_6567896insTGCCCTACTGCA ENST00000254579.6 + 21 6290_6291 c.5726_5727insTGCCCTACTGCA c.(5725-5727)ggc>gTGCCCTACTGCAgc p.1909_1909G>VPYCS DNHD1_ENST00000527990.2_In_Frame_Ins_p.1909_1909G>VPYCS NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 1909 A -> AALLH (in Ref. 5; BAB85004 and 6; CAB70845). microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ATTGAGGAGGCTGCCCTACTGC 0.559 3 2 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14121948 14121950 + RNA DEL CTT CTT - rs35578910 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:14121948_14121950delCTT ENST00000310358.7 + 0 1211 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TTTTAGACACCTTCTTTTCTTTC 0.296 3 4 --- --- --- --- RP11-531H8.1 0 broad.mit.edu 37 11 15608228 15608228 + RNA DEL C C - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:15608228delC ENST00000527770.1 + 0 550 RP11-531H8.2_ENST00000533082.1_lincRNA CTTGGCATCTCCCAGATTAGG 0.433 2 4 --- --- --- --- RP11-396O20.2 0 broad.mit.edu 37 11 15773017 15773017 + RNA DEL C C - rs150644577 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:15773017delC ENST00000524613.1 - 0 187 tttctacatgcccccaggtgg 0.483 4 3 --- --- --- --- RP11-115J23.1 0 broad.mit.edu 37 11 29014801 29014802 + RNA INS - - A rs147447953 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:29014801_29014802insA ENST00000513853.1 + 0 304 GACATGATTCCAAAAAAAGGGG 0.327 2 4 --- --- --- --- RP11-460B17.3 0 broad.mit.edu 37 11 29591424 29591425 + RNA INS - - TC rs3084437 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:29591424_29591425insTC ENST00000525097.1 - 0 70 tataaagaaaatgtttcattgg 0.361 2 4 --- --- --- --- RP11-727A23.10 0 broad.mit.edu 37 11 83060121 83060122 + RNA DEL CG CG - rs61059754 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:83060121_83060122delCG ENST00000530045.1 + 0 537 CACACACACACGCAGACTTCCA 0.386 2 4 --- --- --- --- RP11-94P11.4 0 broad.mit.edu 37 11 105107116 105107116 + RNA DEL A A - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:105107116delA ENST00000528811.1 - 0 189 cttaaactataaaagtcctag 0.303 2 4 --- --- --- --- RP11-469N6.1 0 broad.mit.edu 37 11 134610131 134610132 + RNA INS - - GTGTGTA TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr11:134610131_134610132insGTGTGTA ENST00000513405.1 + 0 947 tgatgcatggtgtgtgtagtgt 0.520 3 3 --- --- --- --- RP11-444D3.1 0 broad.mit.edu 37 12 24596342 24596342 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr12:24596342delT ENST00000538905.1 - 0 45 CATCACACCCTGTTGAAAATC 0.378 2 4 --- --- --- --- RP11-428G5.5 0 broad.mit.edu 37 12 32033262 32033263 + RNA INS - - A rs145450581 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr12:32033262_32033263insA ENST00000535163.1 - 0 37 gaagccatcctagtgagtgacc 0.470 3 4 --- --- --- --- RP11-511B23.2 0 broad.mit.edu 37 12 93578035 93578036 + RNA DEL GT GT - rs61096511 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr12:93578035_93578036delGT ENST00000547432.1 - 0 316 RP11-511B23.2_ENST00000549930.1_RNA gacagacagagtgtgtgtgtgt 0.480 4 3 --- --- --- --- RP11-110L15.1 0 broad.mit.edu 37 12 116202061 116202061 + RNA DEL T T - rs75183811 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr12:116202061delT ENST00000549163.1 + 0 129 TTTTTGTTTGTTTTTTTTTTT 0.428 3 4 --- --- --- --- RP5-944M2.2 0 broad.mit.edu 37 12 126918249 126918250 + RNA INS - - AC rs142109803 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr12:126918249_126918250insAC ENST00000544419.1 + 0 346 tgtatatgtgtaCACACACACA 0.347 2 4 --- --- --- --- RP11-141M1.3 0 broad.mit.edu 37 13 34123926 34123926 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr13:34123926delT ENST00000454681.2 - 0 91 tcagacattattttttttctc 0.378 2 4 --- --- --- --- LINC01500 102723742 broad.mit.edu 37 14 59329178 59329178 + RNA DEL G G - rs33940267 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr14:59329178delG ENST00000553762.1 + 0 322 GACTGCCTGAGGAGAAAAGTG 0.428 4 4 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74206605 74206606 + Frame_Shift_Ins INS - - G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr14:74206605_74206606insG ENST00000286523.5 - 2 888_889 c.106_107insC c.(106-108)gcafs p.A36fs ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.A36fs NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GATGGACTGCTGGGGGGGCTGC 0.668 7 79 --- --- --- --- DIO2-AS1 100628307 broad.mit.edu 37 14 80791641 80791641 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr14:80791641delT ENST00000553979.1 + 0 178 NR_038355.1 GTAGGGACTCTTGCTCTGCTG 0.463 2 4 --- --- --- --- LINC00911 100996280 broad.mit.edu 37 14 85881098 85881099 + RNA INS - - G rs77251917 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr14:85881098_85881099insG ENST00000557547.1 - 0 110 LINC00911_ENST00000555272.1_lincRNA aattggcatttgagctgaaata 0.426 4 4 --- --- --- --- RP11-1070N10.5 0 broad.mit.edu 37 14 96092918 96092919 + RNA INS - - T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr14:96092918_96092919insT ENST00000555032.1 + 0 120 caccttaatcatttttaaatgt 0.386 2 4 --- --- --- --- RP11-1082A3.1 0 broad.mit.edu 37 14 98967348 98967348 + RNA DEL T T - rs10564569 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr14:98967348delT ENST00000554515.1 + 0 107 TCCTGTAttcttttttttttt 0.502 2 4 --- --- --- --- RP11-1082A3.1 0 broad.mit.edu 37 14 98971627 98971628 + RNA DEL AC AC - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr14:98971627_98971628delAC ENST00000554515.1 + 0 107 acaacacaagacacacacacac 0.495 2 4 --- --- --- --- RP11-507B12.2 0 broad.mit.edu 37 15 61906094 61906095 + RNA INS - - T TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr15:61906094_61906095insT ENST00000559783.1 - 0 35 caacattgcagttttttggagg 0.450 2 4 --- --- --- --- RP11-809H16.5 0 broad.mit.edu 37 15 69389778 69389779 + RNA DEL TC TC - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr15:69389778_69389779delTC ENST00000559870.1 + 0 434 CCCAATACTATCTCTCTCTTTT 0.401 2 4 --- --- --- --- AC004125.3 0 broad.mit.edu 37 16 24250651 24250652 + RNA INS - - G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr16:24250651_24250652insG ENST00000567624.1 + 0 52 caaatcaagcaggggaaaagtg 0.426 2 4 --- --- --- --- HERC2P4 100289574 broad.mit.edu 37 16 32123215 32123215 + RNA DEL G G - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr16:32123215delG ENST00000564145.1 - 0 456 tattctagaaGGATAAATTAT 0.343 4 5 --- --- --- --- RP11-42I10.1 0 broad.mit.edu 37 16 48670514 48670515 + RNA INS - - AAAC rs113650654 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr16:48670514_48670515insAAAC ENST00000564212.1 + 0 157 actctgtctcaaaacaaacaaa 0.455 3 5 --- --- --- --- LOC283856 283856 broad.mit.edu 37 16 56170279 56170280 + RNA INS - - C TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr16:56170279_56170280insC ENST00000501259.1 - 0 1691 RP11-355E10.1_ENST00000564102.1_lincRNA NR_027078.1 ttaatatatttcccccatgcca 0.406 2 4 --- --- --- --- RP5-1029F21.3 0 broad.mit.edu 37 17 410482 410483 + RNA INS - - G rs142334912 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr17:410482_410483insG ENST00000571282.1 + 0 126 CGACAGGCTGTGGGGGGGAGTG 0.584 3 5 --- --- --- --- LINC01482 101928104 broad.mit.edu 37 17 66668467 66668467 + RNA DEL G G - rs77199359 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr17:66668467delG ENST00000585484.1 + 0 183 TACCTCTGATGGGGGGGGAAT 0.373 5 1 --- --- --- --- LINC00907 284260 broad.mit.edu 37 18 39856095 39856096 + RNA INS - - CACA rs72008022 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr18:39856095_39856096insCACA ENST00000593234.1 + 0 402 NR_046456.1 acacgtgcgcgcacacacacac 0.446 3 6 --- --- --- --- LOC642484 642484 broad.mit.edu 37 18 53675786 53675786 + RNA DEL G G - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr18:53675786delG ENST00000382897.2 - 0 2266 CTD-2008L17.1_ENST00000589440.1_lincRNA GAGAGTGATTGGCATCCTTGG 0.473 2 4 --- --- --- --- ZNF667-AS1 100128252 broad.mit.edu 37 19 57005413 57005413 + RNA DEL G G - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr19:57005413delG ENST00000585445.1 + 0 251 NR_036521.1 catgcctggTGGACATTCCAT 0.522 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11037486 11037487 + RNA DEL AG AG - rs147195770 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr21:11037486_11037487delAG ENST00000470054.1 - 0 1476 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAGTCTTTTCAGAGTCAGAATG 0.257 3 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11039939 11039941 + RNA DEL GTT GTT - rs146620410 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr21:11039939_11039941delGTT ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGATATAATCGTTGTTCTTCATC 0.320 4 8 --- --- --- --- LINC01425 101927821 broad.mit.edu 37 21 23127537 23127538 + RNA DEL GT GT - rs59438344 TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr21:23127537_23127538delGT ENST00000430060.1 + 0 349 cttttaaagagtgtgtgtgtgt 0.406 2 4 --- --- --- --- LOC400867 400867 broad.mit.edu 37 21 40303290 40303291 + RNA INS - - AAC rs145207873 by1000genomes TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr21:40303290_40303291insAAC ENST00000380931.2 - 0 620 AATTGCCTTCAAACAACAACAA 0.376 7 1 --- --- --- --- ISX-AS1 101926957 broad.mit.edu 37 22 35432289 35432290 + RNA DEL CT CT - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr22:35432289_35432290delCT ENST00000448318.4 - 0 686 ttctctctccctctctctctct 0.470 3 5 --- --- --- --- RP1-151B14.6 0 broad.mit.edu 37 22 37572767 37572768 + RNA INS - - G TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chr22:37572767_37572768insG ENST00000419128.1 + 0 208 GGGAGAGGAGAGGGGGGCTGCA 0.609 2 4 --- --- --- --- LINC01420 550643 broad.mit.edu 37 X 56818404 56818404 + RNA DEL T T - TCGA-17-Z004-01A-01W-0746-08 TCGA-17-Z004-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1a70a4b-2879-48e8-87e1-b02c57d58705 c7abe259-4625-4469-8083-e5b9f9e21c3f g.chrX:56818404delT ENST00000374922.4 + 0 468 NR_015367.2 cctctgtctctttttttttct 0.378 2 4 --- --- --- ---