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 C10orf71 118461 broad.mit.edu 37 10 50532115 50532115 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:50532115C>T ENST00000374144.3 + 3 1813 c.1525C>T c.(1525-1527)Cgt>Tgt p.R509C C10orf71_ENST00000323868.4_Missense_Mutation_p.R509C Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 509 endometrium(1) 1 CGTGCGGAAGCGTGTTAAGAG 0.488000 7 107 0 0 0.307466 0 0 DGCR2 9993 broad.mit.edu 37 22 19044613 19044613 + Missense_Mutation SNP T T A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr22:19044613T>A ENST00000263196.7 - 6 935 c.688A>T c.(688-690)Aac>Tac p.N230Y DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.N189Y|DGCR2_ENST00000473832.1_5'UTR NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 230 C-type lectin. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) CAGAACACGTTGTCGTTCTCA 0.582000 10 23 0 0 0.361761 0 0 MED12L 116931 broad.mit.edu 37 3 150910380 150910380 + Missense_Mutation SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:150910380C>G ENST00000309237.4 + 14 2545 c.2012C>G c.(2011-2013)aCt>aGt p.T671S MED12L_ENST00000422248.2_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 656 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCAGGAACCACTAACATTTTT 0.353000 8 1 0 0 0.307466 0 0 ZNF461 92283 broad.mit.edu 37 19 37129906 37129906 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:37129906C>T ENST00000588268.1 - 6 1568 c.1341G>A c.(1339-1341)ggG>ggA p.G447G ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Silent_p.G424G NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TAAAAGTCTTCCCACATTCCT 0.408000 4 77 0 0 0.150653 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149212595 149212595 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:149212595C>T ENST00000309241.5 + 5 991 c.959C>T c.(958-960)tCc>tTc p.S320F PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S256F|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S281F|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S320F NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 320 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGCAACCCCTCCCAGCAGGTC 0.617000 4 41 0 0 0.150653 0 0 OR1S2 219958 broad.mit.edu 37 11 57970918 57970918 + Nonsense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:57970918C>A ENST00000302592.6 - 1 735 c.736G>T c.(736-738)Gga>Tga p.G246* NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) TTCCACTTTCCCTGTGTGGAT 0.463000 22 60 1.50039e-11 1.8256e-11 0.608945 1 0 GIMAP5 55340 broad.mit.edu 37 7 150439289 150439289 + Nonsense_Mutation SNP T T A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:150439289T>A ENST00000358647.3 + 3 429 c.62T>A c.(61-63)tTg>tAg p.L21* GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAGATAACTTGTCTGCAACA 0.433000 15 131 0 0 0.500413 0 0 KCNH8 131096 broad.mit.edu 37 3 19574962 19574962 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:19574962C>T ENST00000328405.2 + 16 2961 c.2695C>T c.(2695-2697)Ctg>Ttg p.L899L NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 899 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GGAAAACGTTCTGTCACCTCA 0.483000 5 87 0 0 0.217242 0 0 SLC16A2 6567 broad.mit.edu 37 X 73744218 73744218 + Silent SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:73744218C>A ENST00000276033.5 + 3 988 c.822C>A c.(820-822)acC>acA p.T274T SLC16A2_ENST00000587091.1_Silent_p.T200T P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 200 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) GCTACTTCACCTACGGGATTC 0.572000 3 64 0.004672 0.00541777 0.115264 1 0 KIAA1841 84542 broad.mit.edu 37 2 61361278 61361278 + Missense_Mutation SNP A A G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:61361278A>G ENST00000295031.5 + 21 2412 c.2035A>G c.(2035-2037)Aaa>Gaa p.K679E NM_032506.2 NP_115895.2 Q6NSI8 K1841_HUMAN KIAA1841 0 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) acagacagacaaactgagacc 0.398000 4 54 0 0 0.150653 0 0 ZNF208 7757 broad.mit.edu 37 19 22155896 22155896 + Missense_Mutation SNP A A C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:22155896A>C ENST00000397126.4 - 4 2088 c.1940T>G c.(1939-1941)aTt>aGt p.I647S ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAGACCTTAATAAAGGTTTT 0.398000 3 117 0 0 0.115264 0 0 TTYH2 94015 broad.mit.edu 37 17 72256305 72256305 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:72256305C>T ENST00000441391.2 + 8 1811 c.599C>T c.(598-600)gCg>gTg p.A200V TTYH2_ENST00000529107.1_Missense_Mutation_p.A500V|TTYH2_ENST00000269346.4_Missense_Mutation_p.A521V|CTD-2514K5.4_ENST00000583018.1_RNA NM_052869.1 NP_443101.1 Q9BSA4 TTYH2_HUMAN tweety family member 2 521 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 CTGTCTGTGGCGGATGAGCAC 0.527000 11 109 0 0 0.457914 0 0 CHD1 1105 broad.mit.edu 37 5 98240663 98240663 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:98240663C>T ENST00000284049.3 - 2 342 c.193G>A c.(193-195)Gag>Aag p.E65K NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 65 Ser-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) GTGTCTGACTCAGACTCTGAC 0.458000 5 153 0 0 0.184627 0 0 BLMH 642 broad.mit.edu 37 17 28599790 28599790 + Missense_Mutation SNP T T A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:28599790T>A ENST00000261714.6 - 8 1103 c.929A>T c.(928-930)aAg>aTg p.K310M BLMH_ENST00000394819.3_Missense_Mutation_p.K223M NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 310 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 AGCAACCATCTTTTTCAGGAA 0.383000 41 75 0 0 0.864702 0 0 SMC3 9126 broad.mit.edu 37 10 112344026 112344026 + Missense_Mutation SNP A A G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:112344026A>G ENST00000361804.4 + 13 1303 c.1177A>G c.(1177-1179)Aag>Gag p.K393E NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 393 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) AGAAAGGGATAAGTGGATTAA 0.383000 3 131 0 0 0.150653 0 0 POT1 25913 broad.mit.edu 37 7 124511045 124511045 + Missense_Mutation SNP A A T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:124511045A>T ENST00000357628.3 - 7 773 c.175T>A c.(175-177)Tgc>Agc p.C59S POT1_ENST00000393329.1_Intron NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 59 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 AAGAGCAGGCAAGTTAGTTTT 0.318000 27 37 0 0 0.706142 0 0 GRM6 2916 broad.mit.edu 37 5 178418427 178418427 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:178418427G>A ENST00000231188.5 - 3 1033 c.855C>T c.(853-855)atC>atT p.I285I GRM6_ENST00000517717.1_Silent_p.I285I NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 285 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TGTCCCACCTGATGTCATCCT 0.607000 6 108 0 0 0.217242 0 0 CNTN5 53942 broad.mit.edu 37 11 100170119 100170119 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:100170119G>A ENST00000524871.1 + 20 2901 c.2611G>A c.(2611-2613)Gct>Act p.A871T CNTN5_ENST00000527185.1_Missense_Mutation_p.A871T|CNTN5_ENST00000418526.2_Missense_Mutation_p.A797T|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.A871T|CNTN5_ENST00000279463.3_Missense_Mutation_p.A871T NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 871 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CATCTGTTCAGCTGAAGGAGG 0.323000 30 27 0 0 0.740014 0 0 OR4D10 390197 broad.mit.edu 37 11 59245666 59245666 + Missense_Mutation SNP T T G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:59245666T>G ENST00000530162.1 + 1 821 c.764T>G c.(763-765)aTc>aGc p.I255S NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTGCCCTGCATCTATGTCTAT 0.552000 91 166 0 0 0.870114 0 0 ADAM17 6868 broad.mit.edu 37 2 9683351 9683351 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:9683351G>A ENST00000310823.3 - 2 343 c.161C>T c.(160-162)tCg>tTg p.S54L ADAM17_ENST00000497134.1_Missense_Mutation_p.S54L NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 54 B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) TTTTCTTACCGAATGCTGCTG 0.328000 5 103 0 0 0.184627 0 0 MYH1 4619 broad.mit.edu 37 17 10417174 10417174 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:10417174G>A ENST00000226207.5 - 8 799 c.705C>T c.(703-705)aaC>aaT p.N235N CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 235 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CGGTCTTGGCGTTGCCAAAGG 0.507000 44 77 0 0 0.870114 0 0 OR1S2 219958 broad.mit.edu 37 11 57970919 57970919 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:57970919C>T ENST00000302592.6 - 1 734 c.735G>A c.(733-735)caG>caA p.Q245Q NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) TCCACTTTCCCTGTGTGGATG 0.463000 23 60 0 0 0.624587 0 0 ZBED1 9189 broad.mit.edu 37 X 2407351 2407351 + Silent SNP G G A rs141520513 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:2407351G>A ENST00000381223.4 - 2 1613 c.1410C>T c.(1408-1410)aaC>aaT p.N470N ZBED1_ENST00000381222.2_Silent_p.N470N|ZBED1_ENST00000381218.3_Silent_p.N470N|DHRSX_ENST00000334651.5_Intron NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 470 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGGTGGCCACGTTGAGAAACA 0.617000 7 109 0 0 0.248553 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239234519 239234519 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:239234519C>T ENST00000373327.4 + 3 484 c.262C>T c.(262-264)Ctg>Ttg p.L88L TRAF3IP1_ENST00000391993.3_Silent_p.L88L|TRAF3IP1_ENST00000391994.2_Silent_p.L88L NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 88 Abolishes microtubules-binding when missing. cytoplasm|cytoskeleton protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) GGGAGAGCCACTGTTGGCCAA 0.438000 8 44 0 0 0.307466 0 0 OR6F1 343169 broad.mit.edu 37 1 247875704 247875704 + Missense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:247875704C>A ENST00000302084.2 - 1 401 c.354G>T c.(352-354)atG>atT p.M118I RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGTCATAAGCCATGGCTGCCA 0.512000 33 101 5.09552e-08 6.10968e-08 0.750413 1 0 PHLPP1 23239 broad.mit.edu 37 18 60645538 60645538 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:60645538G>A ENST00000400316.4 + 17 4273 c.2492G>A c.(2491-2493)gGc>gAc p.G831D PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1343D NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1343 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CGCATCCTGGGCTACACCTTC 0.572000 22 17 0 0 0.624587 0 0 GOLGA4 2803 broad.mit.edu 37 3 37365369 37365369 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:37365369C>T ENST00000361924.2 + 14 2366 c.1992C>T c.(1990-1992)ttC>ttT p.F664F GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.F686F NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 664 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGATTATCTTCCAGGCCCACA 0.328000 5 53 0 0 0.184627 0 0 MYRF 745 broad.mit.edu 37 11 61539137 61539137 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:61539137G>A ENST00000278836.5 + 6 1002 c.906G>A c.(904-906)ccG>ccA p.P302P TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.P293P NM_001127392.1 NP_001120864.1 myelin regulatory factor CCCAGGGTCCGCTCTCCCCGG 0.667000 42 53 0 0 0.864702 0 0 TENM1 10178 broad.mit.edu 37 X 123805640 123805640 + Missense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:123805640C>A ENST00000422452.2 - 6 1124 c.1061G>T c.(1060-1062)gGa>gTa p.G354V TENM1_ENST00000371130.3_Missense_Mutation_p.G354V NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATACAGCTCTCCTTCAACTGG 0.453000 27 290 1.17739e-12 1.44685e-12 0.693898 1 0 FAM133A 286499 broad.mit.edu 37 X 92964563 92964563 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:92964563G>C ENST00000538690.1 + 5 706 c.145G>C c.(145-147)Gaa>Caa p.E49Q FAM133A_ENST00000322139.4_Missense_Mutation_p.E49Q|FAM133A_ENST00000355813.5_Missense_Mutation_p.E49Q|FAM133A_ENST00000332647.4_Missense_Mutation_p.E49Q NM_001171110.1 NP_001164581.1 Q8N9E0 F133A_HUMAN family with sequence similarity 133, member A 49 Lys-rich. breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1) 20 GAAACAATTAGAAAATAAAAA 0.353000 8 71 0 0 0.307466 0 0 TRIP11 9321 broad.mit.edu 37 14 92470887 92470887 + Missense_Mutation SNP T T A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:92470887T>A ENST00000267622.4 - 11 3806 c.3433A>T c.(3433-3435)Act>Tct p.T1145S NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1145 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TCAAATCTAGTGGACAATTTT 0.328000 T PDGFRB AML 7 19 0 0 0.278610 0 0 CSMD3 114788 broad.mit.edu 37 8 113358405 113358405 + Silent SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:113358405C>A ENST00000297405.5 - 41 6607 c.6363G>T c.(6361-6363)gtG>gtT p.V2121V CSMD3_ENST00000455883.2_Silent_p.V2017V|CSMD3_ENST00000352409.3_Silent_p.V2051V|CSMD3_ENST00000343508.3_Silent_p.V2081V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2121 CUB 12. integral to membrane|plasma membrane p.V2121V(1)|p.V2081V(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GACTGAGGATCACACCACTGA 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 34 75 6.70999e-13 8.28683e-13 0.796494 1 0 MYO10 4651 broad.mit.edu 37 5 16673969 16673969 + Missense_Mutation SNP A A T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:16673969A>T ENST00000513610.1 - 36 5448 c.4994T>A c.(4993-4995)aTg>aAg p.M1665K MYO10_ENST00000505695.1_Missense_Mutation_p.M1004K|MYO10_ENST00000427430.2_Missense_Mutation_p.M1022K|MYO10_ENST00000274203.9_Missense_Mutation_p.M1022K|MYO10_ENST00000515803.1_Missense_Mutation_p.M1004K NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1665 MyTH4. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GTATTTTTCCATCTCGCTTCC 0.473000 4 148 0 0 0.184627 0 0 EIF3H 8667 broad.mit.edu 37 8 117768021 117768021 + Nonsense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:117768021C>A ENST00000521861.1 - 1 39 c.16G>T c.(16-18)Gaa>Taa p.E6* EIF3H_ENST00000276682.4_Nonsense_Mutation_p.E20* NM_003756.2 NP_003747.1 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, subunit H 6 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity large_intestine(2)|lung(10)|skin(1) 13 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) CCGGTACCTTCCTTGCGGGAC 0.597000 19 31 8.28177e-16 1.04902e-15 0.557998 1 0 TSHZ3 57616 broad.mit.edu 37 19 31770628 31770628 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:31770628G>A ENST00000240587.4 - 2 398 c.71C>T c.(70-72)gCc>gTc p.A24V NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 24 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTCCACCAGGGCAGCAGCCTT 0.562000 18 37 0 0 0.729181 0 0 ACVR1B 91 broad.mit.edu 37 12 52377796 52377796 + Nonsense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:52377796G>A ENST00000257963.4 + 5 902 c.825G>A c.(823-825)tgG>tgA p.W275* ACVR1B_ENST00000426655.2_Nonsense_Mutation_p.W275*|ACVR1B_ENST00000541224.1_Nonsense_Mutation_p.W316*|ACVR1B_ENST00000542485.1_Nonsense_Mutation_p.W223*|ACVR1B_ENST00000415850.2_Nonsense_Mutation_p.W275* NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 275 Protein kinase. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding p.W275*(1) breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) ATGGCACCTGGACACAGCTGT 0.453000 11 16 0 0 0.435327 0 0 UNC93A 54346 broad.mit.edu 37 6 167705029 167705029 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:167705029C>T ENST00000230256.3 + 1 227 c.52C>T c.(52-54)Ctc>Ttc p.L18F UNC93A_ENST00000366829.2_Missense_Mutation_p.L18F|UNC93A_ENST00000366830.2_3'UTR NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 18 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GTTCCTGCTTCTCTTTACAGC 0.468000 12 75 0 0 0.435327 0 0 WDR72 256764 broad.mit.edu 37 15 54015037 54015037 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:54015037G>C ENST00000396328.1 - 3 461 c.222C>G c.(220-222)ttC>ttG p.F74L WDR72_ENST00000559418.1_Missense_Mutation_p.F74L|WDR72_ENST00000360509.5_Missense_Mutation_p.F74L|WDR72_ENST00000557913.1_Missense_Mutation_p.F74L NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 74 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GCTGTTTAGAGAAGTCCCTTG 0.378000 15 138 0 0 0.575678 0 0 OR52E4 390081 broad.mit.edu 37 11 5906391 5906391 + Missense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:5906391C>A ENST00000316987.2 + 1 891 c.869C>A c.(868-870)cCt>cAt p.P290H NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCCTTAACCCTGTCATTTAT 0.358000 36 63 4.11147e-13 5.10319e-13 0.788014 1 0 CCDC135 84229 broad.mit.edu 37 16 57741439 57741439 + Missense_Mutation SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:57741439C>G ENST00000360716.3 + 8 1147 c.926C>G c.(925-927)tCg>tGg p.S309W CCDC135_ENST00000394337.4_Missense_Mutation_p.S309W|CCDC135_ENST00000336825.8_Missense_Mutation_p.S244W Q8IY82 CC135_HUMAN coiled-coil domain containing 135 309 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CTTGTGCTATCGGGGAAGCGC 0.592000 2 2 0 0 0.150653 0 0 EIF3H 8667 broad.mit.edu 37 8 117768022 117768022 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:117768022C>T ENST00000521861.1 - 1 38 c.15G>A c.(13-15)aaG>aaA p.K5K EIF3H_ENST00000276682.4_Silent_p.K19K NM_003756.2 NP_003747.1 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, subunit H 5 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity large_intestine(2)|lung(10)|skin(1) 13 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) CGGTACCTTCCTTGCGGGACG 0.602000 20 31 0 0 0.575678 0 0 PDYN 5173 broad.mit.edu 37 20 1961196 1961196 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr20:1961196G>A ENST00000217305.2 - 4 763 c.538C>T c.(538-540)Cgc>Tgc p.R180C PDYN_ENST00000539905.1_Missense_Mutation_p.R180C|PDYN_ENST00000540134.1_Missense_Mutation_p.R180C|RP4-684O24.5_ENST00000446562.1_RNA NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 180 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity p.R180C(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGGTATTTGCGCAAAAAGCCC 0.602000 4 215 0 0 0.184627 0 0 AGRP 181 broad.mit.edu 37 16 67517006 67517006 + Silent SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:67517006G>C ENST00000290953.2 - 3 437 c.138C>G c.(136-138)ggC>ggG p.G46G RP11-297D21.4_ENST00000602596.1_RNA NM_001138.1 NP_001129.1 O00253 AGRP_HUMAN agouti related protein homolog (mouse) 46 hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior extracellular space|Golgi lumen neuropeptide hormone activity endometrium(1) 1 Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16) GGGCCCGCAGGCCCAGGCCTG 0.597000 23 64 0 0 0.624587 0 0 BRD9 65980 broad.mit.edu 37 5 876252 876252 + Silent SNP G G A rs143034112 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:876252G>A ENST00000323510.4 - 9 1058 c.1059C>T c.(1057-1059)ggC>ggT p.G353G BRD9_ENST00000483173.1_Silent_p.G396G|BRD9_ENST00000388890.4_Silent_p.G333G|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000467963.1_Silent_p.G449G Q9H8M2 BRD9_HUMAN bromodomain containing 9 449 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) AGTGGTCTCCGCCTGTGATCT 0.637000 48 47 0 0 0.870114 0 0 HRNR 388697 broad.mit.edu 37 1 152192046 152192046 + Missense_Mutation SNP T T G rs149618092 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:152192046T>G ENST00000368801.2 - 3 2134 c.2059A>C c.(2059-2061)Agc>Cgc p.S687R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 687 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGGCCATTGCTTGAAGACCAA 0.587000 31 111 0 0 0.760397 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783681 149783681 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:149783681G>A ENST00000427880.2 - 1 244 c.198C>T c.(196-198)ttC>ttT p.F66F HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Silent_p.F66F|HIST2H2BF_ENST00000369167.1_Silent_p.F66F Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 66 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) TGTCGTTGACGAAGGAGTTCA 0.617000 68 270 0 0 0.870114 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50660228 50660228 + Missense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr22:50660228C>A ENST00000439308.2 - 16 3052 c.2560G>T c.(2560-2562)Gcc>Tcc p.A854S TUBGCP6_ENST00000248846.5_Missense_Mutation_p.A854S|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 854 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CCATCCCAGGCAGGCGAGTGT 0.662000 3 29 0.150653 0.169143 0.150653 1 0 IKBKB 3551 broad.mit.edu 37 8 42174363 42174363 + Nonsense_Mutation SNP G G T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:42174363G>T ENST00000520810.1 + 11 1252 c.1066G>T c.(1066-1068)Gaa>Taa p.E356* IKBKB_ENST00000416505.2_Nonsense_Mutation_p.E297*|IKBKB_ENST00000379708.3_Nonsense_Mutation_p.E133*|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Nonsense_Mutation_p.E354* NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 356 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity p.E356*(1) breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GCTGCTGCAGGAAGCGGGCCT 0.582000 9 10 1.12685e-05 1.33173e-05 0.307466 1 0 ACADSB 36 broad.mit.edu 37 10 124793961 124793961 + Silent SNP A A T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:124793961A>T ENST00000358776.4 + 2 146 c.132A>T c.(130-132)atA>atT p.I44I ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_5'UTR NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain 44 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) TACTCAATATAACAAATAATG 0.368000 30 22 0 0 0.740014 0 0 PIGR 5284 broad.mit.edu 37 1 207110868 207110868 + Missense_Mutation SNP A A G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:207110868A>G ENST00000356495.4 - 4 800 c.617T>C c.(616-618)gTc>gCc p.V206A NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 206 Ig-like V-type 2. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TTGGTTGATGACAACGCTGAA 0.478000 21 81 0 0 0.639603 0 0 MGA 23269 broad.mit.edu 37 15 42052641 42052641 + Nonsense_Mutation SNP G G T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:42052641G>T ENST00000219905.7 + 20 7493 c.7312G>T c.(7312-7314)Gaa>Taa p.E2438* MGA_ENST00000545763.1_Nonsense_Mutation_p.E2229*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E2399*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E2229*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E2438* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2399 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity p.E2487*(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GCGGCGTGGTGAAATGAGGGA 0.443000 55 52 1.48341e-19 1.89846e-19 0.870114 1 0 OVOS2 144203 broad.mit.edu 37 12 31265986 31265986 + RNA SNP G G T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:31265986G>T ENST00000542490.1 - 0 857 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CTGCTCAGCAGAAAAAGTGAA 0.423000 15 7 4.14922e-12 5.07355e-12 0.500413 1 0 SERPINB10 5273 broad.mit.edu 37 18 61600405 61600405 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:61600405C>T ENST00000238508.3 + 7 816 c.757C>T c.(757-759)Cta>Tta p.L253L NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CCTGCTTATACTACTGCCAGA 0.418000 85 68 0 0 0.870114 0 0 POTEF 728378 broad.mit.edu 37 2 130832621 130832621 + Silent SNP G G T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:130832621G>T ENST00000357462.5 - 15 2517 c.2424C>A c.(2422-2424)gcC>gcA p.A808A POTEF_ENST00000409914.2_Silent_p.A808A A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 808 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 GGTTCAGGGTGGCCTCGGTCA 0.587000 60 116 3.36121e-32 4.41605e-32 0.870114 1 0 NLGN4X 57502 broad.mit.edu 37 X 5811257 5811257 + Silent SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:5811257C>A ENST00000381095.3 - 6 2679 c.2052G>T c.(2050-2052)tcG>tcT p.S684S NLGN4X_ENST00000381092.1_Silent_p.S684S|NLGN4X_ENST00000275857.6_Silent_p.S684S|NLGN4X_ENST00000538097.1_Silent_p.S684S|NLGN4X_ENST00000381093.2_Silent_p.S704S NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 684 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.S684S(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGAAGAGGAGCGACGCCCCGA 0.527000 60 169 1.20869e-33 1.59651e-33 0.870114 1 0 PTCHD2 57540 broad.mit.edu 37 1 11591085 11591085 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:11591085C>T ENST00000294484.6 + 16 3362 c.3224C>T c.(3223-3225)cCt>cTt p.P1075L PTCHD2_ENST00000389575.3_Missense_Mutation_p.P1075L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1075 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CAGTGCCTGCCTTCAGGTGCG 0.627000 21 48 0 0 0.624587 0 0 MT-CO2 4513 broad.mit.edu 37 MT 7711 7711 + Silent SNP T T C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrM:7711T>C ENST00000361739.1 + 1 126 c.126T>C c.(124-126)ctT>ctC p.L42L mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 CTGTATGCCCTTTTCCTAACA 0.433000 7 299 0 0 0.307466 0 0 MT-CYB 4519 broad.mit.edu 37 MT 14985 14985 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrM:14985G>A ENST00000361789.2 + 1 239 c.239G>A c.(238-240)cGc>cAc p.80_80insH mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 CTGAATCATCCGCTACCTTCA 0.483000 14 249 0 0 0.500413 0 0 DHTKD1 55526 broad.mit.edu 37 10 12136103 12136103 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:12136103C>T ENST00000263035.4 + 7 1253 c.1191C>T c.(1189-1191)gtC>gtT p.V397V DHTKD1_ENST00000465617.1_3'UTR NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 397 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TCATCCATGTCAATGGAGACA 0.517000 6 97 0 0 0.248553 0 0 SELP 6403 broad.mit.edu 37 1 169582862 169582862 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:169582862G>A ENST00000263686.6 - 4 588 c.551C>T c.(550-552)tCc>tTc p.S184F SELP_ENST00000367786.2_Missense_Mutation_p.S184F|SELP_ENST00000367792.2_Missense_Mutation_p.S184F|SELP_ENST00000367788.2_Missense_Mutation_p.S184F|SELP_ENST00000367791.2_Missense_Mutation_p.S184F|SELP_ENST00000367794.2_Missense_Mutation_p.S184F|SELP_ENST00000367793.2_Missense_Mutation_p.S184F|SELP_ENST00000458599.2_Missense_Mutation_p.S184F NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 184 EGF-like. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) AGGGTAACAGGAGCAGGTGTA 0.468000 9 114 0 0 0.307466 0 0 PCNT 5116 broad.mit.edu 37 21 47805791 47805791 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr21:47805791C>T ENST00000359568.5 + 17 3464 c.3357C>T c.(3355-3357)tgC>tgT p.C1119C PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1119 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TAGAAGAGTGCCGCTCCGAGT 0.502000 4 146 0 0 0.150653 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129382 248129382 + Missense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:248129382C>A ENST00000366480.3 + 1 848 c.749C>A c.(748-750)gCa>gAa p.A250E OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AAAGGACAGGCAAAAGCTGTT 0.478000 47 148 1.51926e-22 1.95446e-22 0.870114 1 0 TET1 80312 broad.mit.edu 37 10 70446350 70446350 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:70446350G>A ENST00000373644.4 + 11 5499 c.5290G>A c.(5290-5292)Gag>Aag p.E1764K NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1764 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GATGATGACAGAGGTTCTTGC 0.493000 38 51 0 0 0.840704 0 0 DDX11 1663 broad.mit.edu 37 12 31236920 31236920 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:31236920G>A ENST00000251758.5 + 3 569 c.318G>A c.(316-318)agG>agA p.R106R DDX11_ENST00000542838.1_Silent_p.R106R|DDX11_ENST00000545668.1_Silent_p.R106R|DDX11_ENST00000407793.2_Silent_p.R106R|DDX11_ENST00000350437.4_Silent_p.R106R|DDX11_ENST00000228264.6_Silent_p.R80R Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 106 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GCACCCCGAGGCCTGCTGGAG 0.557000 Multiple Myeloma(12;0.14) 26 33 0 0 0.693898 0 0 CTNND2 1501 broad.mit.edu 37 5 11565065 11565065 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:11565065C>T ENST00000304623.8 - 3 467 c.278G>A c.(277-279)aGc>aAc p.S93N CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.S2N|CTNND2_ENST00000511377.1_Missense_Mutation_p.S2N|CTNND2_ENST00000359640.2_Missense_Mutation_p.S93N NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 93 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 CCTCATGCTGCTCATGCTGCC 0.542000 4 88 0 0 0.150653 0 0 ROCK2 9475 broad.mit.edu 37 2 11375869 11375869 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:11375869G>A ENST00000315872.6 - 5 1130 c.682C>T c.(682-684)Cta>Tta p.L228L NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 228 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) GCTAATTTTAGATGTCCATGT 0.368000 49 142 0 0 0.870114 0 0 EIF4G3 8672 broad.mit.edu 37 1 21226345 21226345 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:21226345G>C ENST00000602326.1 - 14 2277 c.1694C>G c.(1693-1695)tCt>tGt p.S565C EIF4G3_ENST00000264211.8_Missense_Mutation_p.S559C|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S12C|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S559C|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S279C|EIF4G3_ENST00000544689.1_Missense_Mutation_p.S102C|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S565C|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S163C NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 559 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TTTTAGGTCAGAGGGGTCTCT 0.413000 9 170 0 0 0.335167 0 0 LRP2 4036 broad.mit.edu 37 2 170059450 170059450 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:170059450G>A ENST00000263816.3 - 43 8310 c.8025C>T c.(8023-8025)tgC>tgT p.C2675C NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2675 EGF-like 10. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTGGACACTGGCACTCGGCAC 0.493000 4 141 0 0 0.150653 0 0 REG1P 5969 broad.mit.edu 37 2 79364168 79364168 + RNA SNP T T A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:79364168T>A ENST00000444841.1 - 0 285 CTGATGATGCTGTCACTGACC 0.463000 18 21 0 0 0.520397 0 0 RICTOR 253260 broad.mit.edu 37 5 38967494 38967494 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:38967494C>T ENST00000357387.3 - 13 1126 c.1096G>A c.(1096-1098)Gat>Aat p.D366N RICTOR_ENST00000296782.5_Missense_Mutation_p.D366N NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 366 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) ACAAAGCCATCTGAAAGCCTC 0.363000 4 71 0 0 0.217242 0 0 OR51L1 119682 broad.mit.edu 37 11 5020850 5020850 + Nonsense_Mutation SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:5020850C>G ENST00000321543.1 + 1 638 c.638C>G c.(637-639)tCa>tGa p.S213* NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTGTGGATTCAATCTTCATA 0.408000 12 102 0 0 0.387290 0 0 FOXG1 2290 broad.mit.edu 37 14 29237817 29237817 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:29237817G>A ENST00000382535.3 + 2 1701 c.1332G>A c.(1330-1332)tcG>tcA p.S444S FOXG1_ENST00000313071.4_Silent_p.S444S P55316 FOXG1_HUMAN forkhead box G1 444 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CCTCCACGTCGCCGCAGGCCC 0.602000 6 47 0 0 0.248553 0 0 CCDC110 256309 broad.mit.edu 37 4 186379522 186379522 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:186379522G>A ENST00000307588.3 - 6 2294 c.2219C>T c.(2218-2220)aCt>aTt p.T740I CCDC110_ENST00000393540.3_Missense_Mutation_p.T703I|CCDC110_ENST00000510617.1_Missense_Mutation_p.T740I NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 740 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTTGTCTTCAGTAAGTCTACT 0.299000 5 9 0 0 0.184627 0 0 RPL10 6134 broad.mit.edu 37 X 153628150 153628150 + Missense_Mutation SNP A A C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:153628150A>C ENST00000424325.2 + 5 385 c.197A>C c.(196-198)gAg>gCg p.E66A RPL10_ENST00000406022.2_Missense_Mutation_p.E15A|RPL10_ENST00000369817.2_Missense_Mutation_p.E66A NM_001256577.1|NM_001256580.1|NM_006013.3 NP_001243506.1|NP_001243509.1|NP_006004.2 P27635 RL10_HUMAN ribosomal protein L10 66 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTAGCCCTGGAGGCTGCCCGA 0.502000 6 37 0 0 0.248553 0 0 OR2A12 346525 broad.mit.edu 37 7 143792758 143792758 + Missense_Mutation SNP G G T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:143792758G>T ENST00000408949.2 + 1 618 c.558G>T c.(556-558)ttG>ttT p.L186F NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TATTCAAATTGGCCTGTGCTG 0.493000 116 205 1.45418e-49 1.95207e-49 0.870114 1 0 AP1G2 8906 broad.mit.edu 37 14 24032623 24032623 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:24032623C>T ENST00000308724.5 - 13 2131 c.1376G>A c.(1375-1377)cGc>cAc p.R459H RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R459H NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 459 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) ATTGTAGAGGCGGCGCACAGA 0.632000 OREG0022605 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 19 0 0 0.248553 0 0 PCNX 22990 broad.mit.edu 37 14 71479892 71479892 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:71479892G>A ENST00000304743.2 + 11 3415 c.2969G>A c.(2968-2970)aGa>aAa p.R990K PCNX_ENST00000238570.5_Missense_Mutation_p.R990K|PCNX_ENST00000439984.3_Missense_Mutation_p.R879K NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 990 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AACTTTGACAGACTCACACTT 0.398000 4 184 0 0 0.217242 0 0 LOC645166 645166 broad.mit.edu 37 1 148933289 148933289 + RNA SNP A A G rs9729175 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:148933289A>G ENST00000539543.1 + 0 176 NR_027355.1 TGCTGCCCGCAGGATATTGTG 0.562000 3 3 0 0 0.184627 0 0 CACNA1A 773 broad.mit.edu 37 19 13325397 13325397 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:13325397G>A ENST00000360228.5 - 39 5756 c.5757C>T c.(5755-5757)gaC>gaT p.D1919D CACNA1A_ENST00000573710.2_Silent_p.D1920D NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1920 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCAGCTCAGCGTCCATCTGCT 0.582000 13 22 0 0 0.479597 0 0 DCN 1634 broad.mit.edu 37 12 91572168 91572168 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:91572168G>A ENST00000551354.1 - 2 366 c.162C>T c.(160-162)tgC>tgT p.C54C DCN_ENST00000425043.1_Silent_p.C54C|DCN_ENST00000393155.1_Silent_p.C54C|DCN_ENST00000547568.2_Silent_p.C54C|DCN_ENST00000228329.5_Silent_p.C54C|DCN_ENST00000552962.1_Silent_p.C54C|DCN_ENST00000441303.2_Silent_p.C54C|DCN_ENST00000303320.3_Silent_p.C54C|DCN_ENST00000550099.1_Silent_p.C54C|DCN_ENST00000546745.1_Silent_p.C54C|DCN_ENST00000546370.1_Silent_p.C54C|DCN_ENST00000052754.5_Silent_p.C54C|DCN_ENST00000456569.2_Silent_p.C54C|DCN_ENST00000420120.2_Silent_p.C54C P07585 PGS2_HUMAN decorin 54 Cys-rich. organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 AGCGGAAGGGGCACACTGGGC 0.502000 OREG0022021 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 113 0 0 0.307466 0 0 OBSCN 84033 broad.mit.edu 37 1 228491471 228491471 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:228491471G>A ENST00000570156.2 + 52 13908 c.13834G>A c.(13834-13836)Gtg>Atg p.V4612M OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.V1302M|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_3'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3655 Fibronectin type-III 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCGGCCCCCGTGGAGTGGCG 0.612000 6 213 0 0 0.278610 0 0 NLRP3 114548 broad.mit.edu 37 1 247611770 247611770 + Missense_Mutation SNP G G T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:247611770G>T ENST00000366497.2 + 9 3684 c.2904G>T c.(2902-2904)aaG>aaT p.K968N NLRP3_ENST00000391827.2_Missense_Mutation_p.K968N|NLRP3_ENST00000336119.3_Missense_Mutation_p.K1025N|NLRP3_ENST00000391828.3_Missense_Mutation_p.K1025N|NLRP3_ENST00000348069.2_Missense_Mutation_p.K911N|NLRP3_ENST00000366496.2_Missense_Mutation_p.K968N NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 1025 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AAGAAGAAAAGCCTGAGCTGA 0.498000 4 201 0.184627 0.206348 0.184627 1 0 XIAP 331 broad.mit.edu 37 X 123020085 123020085 + Nonsense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:123020085C>A ENST00000371199.3 + 2 872 c.573C>A c.(571-573)taC>taA p.Y191* XIAP_ENST00000434753.3_Nonsense_Mutation_p.Y191*|XIAP_ENST00000355640.3_Nonsense_Mutation_p.Y191*|XIAP_ENST00000468691.1_Intron NM_001167.3 NP_001158.2 P98170 XIAP_HUMAN X-linked inhibitor of apoptosis 191 anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3) 25 GACTCTACTACACAGGTATTG 0.463000 X-linked Lymphoproliferative syndrome 11 46 0.0809354 0.091702 0.387290 1 0 ADNP 23394 broad.mit.edu 37 20 49510670 49510670 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr20:49510670G>C ENST00000396029.3 - 5 1148 c.581C>G c.(580-582)gCa>gGa p.A194G ADNP_ENST00000349014.3_Missense_Mutation_p.A194G|ADNP_ENST00000396032.3_Missense_Mutation_p.A194G|ADNP_ENST00000371602.4_Missense_Mutation_p.A194G NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 194 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 TATGTAAGGTGCTGCCACATG 0.448000 3 124 0 0 0.115264 0 0 FAM198B 51313 broad.mit.edu 37 4 159092384 159092384 + Missense_Mutation SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:159092384C>G ENST00000296530.8 - 2 765 c.144G>C c.(142-144)ttG>ttC p.L48F FAM198B_ENST00000585682.1_Missense_Mutation_p.L48F|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.L48F|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.L48F NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 48 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 CCAGGAAGCCCAAGTAGATGG 0.667000 3 108 0 0 0.184627 0 0 RASAL3 64926 broad.mit.edu 37 19 15572099 15572099 + Silent SNP T T C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:15572099T>C ENST00000343625.6 - 4 554 c.474A>G c.(472-474)cgA>cgG p.R158R NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 158 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 CCCGGGGCCTTCGAGGACCCT 0.642000 3 27 0 0 0.115264 0 0 TRIM58 25893 broad.mit.edu 37 1 248039301 248039301 + Missense_Mutation SNP A A T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:248039301A>T ENST00000366481.3 + 6 1019 c.971A>T c.(970-972)aAc>aTc p.N324I OR2W3_ENST00000537741.1_5'UTR NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 324 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GATGTCCCCAACAACCCTGAG 0.592000 78 176 0 0 0.870114 0 0 IGLV1-40 28825 broad.mit.edu 37 22 22764377 22764377 + RNA SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr22:22764377C>A ENST00000390299.2 + 0 170 GTCACCATCTCCTGCACTGGG 0.602000 55 157 1.72039e-30 2.24834e-30 0.870114 1 0 PTEN 5728 broad.mit.edu 37 10 89711906 89711906 + Missense_Mutation SNP T T A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:89711906T>A ENST00000371953.3 + 6 1881 c.524T>A c.(523-525)gTg>gAg p.V175E NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 175 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.V175fs*3(1)|p.R172fs*5(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGGCGCTATGTGTATTATTAT 0.353000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 18 106 0 0 0.539581 0 0 CNTN3 5067 broad.mit.edu 37 3 74334529 74334529 + Silent SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:74334529C>G ENST00000263665.6 - 19 2658 c.2631G>C c.(2629-2631)acG>acC p.T877T NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 877 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CCCGGACAGCCGTGTAATAGG 0.498000 18 214 0 0 0.575678 0 0 HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs117718337 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:71054178T>C ENST00000393567.2 - 22 3379 c.3229A>G c.(3229-3231)Ata>Gta p.I1077V HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1077 I -> V (in dbSNP:rs6416709). p.I1077V(3)|p.I1029V(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418000 5 77 0 0 0.184627 0 0 COL4A4 1286 broad.mit.edu 37 2 227924919 227924919 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:227924919C>T ENST00000396625.3 - 27 2304 c.2097G>A c.(2095-2097)ctG>ctA p.L699L COL4A4_ENST00000329662.7_Silent_p.L699L NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 699 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CTGAACCACTCAGCCCAGGGG 0.413000 12 77 0 0 0.411799 0 0 KIF7 374654 broad.mit.edu 37 15 90188652 90188652 + Silent SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:90188652C>A ENST00000394412.3 - 9 2029 c.1953G>T c.(1951-1953)gcG>gcT p.A651A NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 651 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GGCGTGCCCCCGCCCTCTGAC 0.642000 50 63 1.4374e-25 1.86862e-25 0.870114 1 0 HBP1 26959 broad.mit.edu 37 7 106826354 106826354 + Silent SNP T T C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:106826354T>C ENST00000222574.4 + 4 693 c.507T>C c.(505-507)caT>caC p.H169H HBP1_ENST00000468410.1_Silent_p.H169H|HBP1_ENST00000485846.1_Silent_p.H169H NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 169 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 CTCATCACCATTGGAAGGAGG 0.413000 8 203 0 0 0.278610 0 0 ZNF154 7710 broad.mit.edu 37 19 58213862 58213862 + Missense_Mutation SNP T T A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:58213862T>A ENST00000512439.2 - 3 651 c.455A>T c.(454-456)cAg>cTg p.Q152L AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.Q152L Q13106 ZN154_HUMAN zinc finger protein 154 152 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GAGGGTTCTCTGCTGCTGAAC 0.443000 123 286 0 0 0.870114 0 0 SLC45A2 51151 broad.mit.edu 37 5 33984667 33984667 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:33984667C>T ENST00000382102.3 - 1 79 c.22G>A c.(22-24)Gct>Act p.A8T SLC45A2_ENST00000296589.4_Missense_Mutation_p.A8T|SLC45A2_ENST00000342059.3_Missense_Mutation_p.A8T|SLC45A2_ENST00000509381.1_Missense_Mutation_p.A8T|SLC45A2_ENST00000345083.5_Missense_Mutation_p.A8T NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 8 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 TGGCGGCCAGCCTGCCCACTG 0.567000 53 133 0 0 0.870114 0 0 SYNE2 23224 broad.mit.edu 37 14 64518664 64518664 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:64518664G>C ENST00000358025.3 + 48 8263 c.8033G>C c.(8032-8034)gGa>gCa p.G2678A SYNE2_ENST00000554584.1_Missense_Mutation_p.G2711A|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.G2678A NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2678 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.G2678V(2) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ACCAAGCATGGATTTTCTGTT 0.433000 20 180 0 0 0.624587 0 0 TEKT4P2 100132288 broad.mit.edu 37 21 9908264 9908264 + RNA SNP G G T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr21:9908264G>T ENST00000416067.1 - 0 528 NR_037872.1|NR_038327.1 CTGCCTCAGAGGCCCAGGCAG 0.617000 4 7 3.59834e-05 4.23233e-05 0.217242 1 0 VPS33A 65082 broad.mit.edu 37 12 122734439 122734439 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:122734439C>T ENST00000267199.4 - 6 866 c.754G>A c.(754-756)Gaa>Aaa p.E252K RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.E213K NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 252 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CCATAAATTTCATCAATGAGT 0.348000 3 50 0 0 0.150653 0 0 GATA1 2623 broad.mit.edu 37 X 48650256 48650256 + Missense_Mutation SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:48650256C>G ENST00000376670.3 + 3 337 c.226C>G c.(226-228)Cag>Gag p.Q76E GATA1_ENST00000376665.3_Missense_Mutation_p.Q76E NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 76 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V74fs*60(1)|p.Q76E(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 AACAGTCTTTCAGGTGTACCC 0.587000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 110 211 0 0 0.870114 0 0 CSMD3 114788 broad.mit.edu 37 8 113256648 113256648 + Missense_Mutation SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:113256648C>G ENST00000297405.5 - 65 10621 c.10377G>C c.(10375-10377)tgG>tgC p.W3459C CSMD3_ENST00000455883.2_Missense_Mutation_p.W3290C|CSMD3_ENST00000352409.3_Missense_Mutation_p.W3389C|CSMD3_ENST00000343508.3_Missense_Mutation_p.W3419C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3459 Sushi 28. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTTTTCCAGTCCAGGTGTTAT 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 148 0 0 0.307466 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58601464 58601464 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:58601464G>A ENST00000240727.6 - 2 570 c.171C>T c.(169-171)taC>taT p.Y57Y ZSCAN18_ENST00000600404.1_Silent_p.Y113Y|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Silent_p.Y57Y NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 57 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CAGCCTCCTGGTAGACAAATT 0.662000 4 16 0 0 0.184627 0 0 FAM138D 677784 broad.mit.edu 37 12 68657 68657 + RNA SNP T T C rs142484764 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:68657T>C ENST00000546223.1 + 0 777 TAGTCTCCCCTCCACCCCTCT 0.557000 4 8 0 0 0.217242 0 0 FMR1 2332 broad.mit.edu 37 X 147010237 147010237 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:147010237C>T ENST00000218200.8 + 5 560 c.331C>T c.(331-333)Cgt>Tgt p.R111C FMR1_ENST00000439526.2_Missense_Mutation_p.R111C|FMR1_ENST00000334557.6_Missense_Mutation_p.R111C|FMR1_ENST00000370470.1_Missense_Mutation_p.R111C|FMR1_ENST00000370475.4_Missense_Mutation_p.R111C|FMR1_ENST00000370477.1_Missense_Mutation_p.R111C|FMR1_ENST00000370471.3_Missense_Mutation_p.R111C NM_001185076.1|NM_001185082.1 NP_001172005.1|NP_001172011.1 Q06787 FMR1_HUMAN fragile X mental retardation 1 111 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(192;6.56e-05) CACAATTGAACGTCTAAGATC 0.338000 Fragile X syndrome 84 171 0 0 0.870114 0 0 XPR1 9213 broad.mit.edu 37 1 180772724 180772724 + Missense_Mutation SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:180772724C>G ENST00000367590.4 + 4 622 c.424C>G c.(424-426)Cta>Gta p.L142V XPR1_ENST00000367589.3_Missense_Mutation_p.L142V NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 142 SPX. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 CTACCTCAGTCTAATCCTGCT 0.393000 4 207 0 0 0.150653 0 0 DCUN1D2 55208 broad.mit.edu 37 13 114128538 114128538 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:114128538G>A ENST00000332592.3 - 2 56 c.22C>T c.(22-24)Ctg>Ttg p.L8L DCUN1D2-AS_ENST00000414992.1_RNA|DCUN1D2_ENST00000375399.2_Silent_p.L141L|DCUN1D2_ENST00000478244.1_Silent_p.L141L Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain containing 2 141 UBA-like. breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1) 7 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) AGTCTTGGCAGAAGAGCCTTT 0.507000 13 198 0 0 0.457914 0 0 KLHL4 56062 broad.mit.edu 37 X 86887308 86887308 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:86887308G>C ENST00000373119.4 + 7 1568 c.1423G>C c.(1423-1425)Gat>Cat p.D475H KLHL4_ENST00000373114.4_Missense_Mutation_p.D475H NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 475 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CGCAGTTATTGATAATAAGCT 0.413000 6 103 0 0 0.248553 0 0 OR4D5 219875 broad.mit.edu 37 11 123810832 123810832 + Missense_Mutation SNP G G T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:123810832G>T ENST00000307033.2 + 1 583 c.509G>T c.(508-510)gGg>gTg p.G170V NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCATTCTGTGGGCCTGACAAG 0.473000 40 36 1.76056e-25 2.27674e-25 0.859065 1 0 ANKRD6 22881 broad.mit.edu 37 6 90322046 90322046 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:90322046G>A ENST00000369408.5 + 6 822 c.473G>A c.(472-474)cGc>cAc p.R158H ANKRD6_ENST00000485637.1_Missense_Mutation_p.R158H|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R158H|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R125H|ANKRD6_ENST00000522441.1_Missense_Mutation_p.R158H|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R158H NM_001242813.1 NP_001229742.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 158 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) CAGAGCACGCGCGTCCTCCTG 0.542000 4 5 0 0 0.150653 0 0 ACP2 53 broad.mit.edu 37 11 47264815 47264815 + Missense_Mutation SNP A A G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:47264815A>G ENST00000256997.3 - 8 946 c.830T>C c.(829-831)cTc>cCc p.L277P ACP2_ENST00000529444.1_Missense_Mutation_p.L214P|ACP2_ENST00000537863.1_Missense_Mutation_p.L90P|ACP2_ENST00000533929.1_Missense_Mutation_p.L249P|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000527256.1_Missense_Mutation_p.L245P NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 277 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 CAGCTTGGGGAGCTGGGAGGT 0.587000 4 143 0 0 0.217242 0 0 SOCS5 9655 broad.mit.edu 37 2 46987135 46987135 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:46987135G>A ENST00000306503.5 + 2 1638 c.1466G>A c.(1465-1467)cGc>cAc p.R489H SOCS5_ENST00000394861.2_Missense_Mutation_p.R489H NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 489 SOCS box. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TATATCTGTCGCGCGGTAATC 0.373000 5 98 0 0 0.217242 0 0 CENPF 1063 broad.mit.edu 37 1 214826278 214826278 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:214826278C>T ENST00000366955.3 + 16 8436 c.8268C>T c.(8266-8268)ctC>ctT p.L2756L CENPF_ENST00000467765.1_3'UTR NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2852 Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGAAGAGCTCAATAATTCAT 0.338000 10 247 0 0 0.361761 0 0 ALX4 60529 broad.mit.edu 37 11 44296990 44296990 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:44296990G>A ENST00000329255.3 - 2 788 c.685C>T c.(685-687)Ctg>Ttg p.L229L NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 229 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 ACCTTCTCCAGCTCCTCCAGC 0.612000 97 246 0 0 0.870114 0 0 C15orf38 348110 broad.mit.edu 37 15 90446603 90446603 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:90446603C>T ENST00000357484.5 - 5 637 c.517G>A c.(517-519)Gcc>Acc p.A173T C15orf38_ENST00000460685.1_Missense_Mutation_p.A77T|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.A173T NM_182616.2 NP_872422.1 chromosome 15 open reading frame 38 breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1) 10 Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) TCAAGTTTGGCCAATGAATCT 0.498000 4 123 0 0 0.150653 0 0 TPH1 7166 broad.mit.edu 37 11 18042606 18042606 + Nonsense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:18042606C>A ENST00000250018.2 - 10 1829 c.1267G>T c.(1267-1269)Gag>Tag p.E423* TPH1_ENST00000341556.2_Nonsense_Mutation_p.E423*|RP1-59M18.2_ENST00000525523.1_RNA NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 423 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) TGCTGCAGCTCATTCATGGCA 0.443000 9 273 1.76689e-08 2.12889e-08 0.335167 1 0 CACNG8 59283 broad.mit.edu 37 19 54466466 54466466 + Missense_Mutation SNP A A T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:54466466A>T ENST00000270458.2 + 1 173 c.70A>T c.(70-72)Acg>Tcg p.T24S NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 24 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) GGTGCTGCTGACGACGGTGGG 0.667000 5 8 0 0 0.217242 0 0 LILRB1 10859 broad.mit.edu 37 19 55144077 55144077 + Missense_Mutation SNP C C A rs61737881 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:55144077C>A ENST00000396331.1 + 7 1181 c.824C>A c.(823-825)gCt>gAt p.A275D LILRB1_ENST00000396321.2_Missense_Mutation_p.A275D|LILRB1_ENST00000396315.1_Missense_Mutation_p.A275D|LILRB1_ENST00000396332.4_Missense_Mutation_p.A275D|LILRB1_ENST00000418536.2_Missense_Mutation_p.A275D|LILRB1_ENST00000396317.1_Missense_Mutation_p.A275D|LILRB1_ENST00000396327.3_Missense_Mutation_p.A275D|LILRB1_ENST00000324602.7_Missense_Mutation_p.A275D|LILRB1_ENST00000434867.2_Missense_Mutation_p.A275D|LILRB1_ENST00000448689.1_Missense_Mutation_p.A275D|LILRB1_ENST00000427581.2_Missense_Mutation_p.A311D NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 275 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAGCCCCAGGCTGGGCTCTCC 0.607000 HNSCC(37;0.09) 23 52 1.9806e-07 2.36332e-07 0.624587 1 0 ZNF14 7561 broad.mit.edu 37 19 19822504 19822504 + Missense_Mutation SNP T T A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:19822504T>A ENST00000344099.3 - 4 1724 c.1586A>T c.(1585-1587)aAg>aTg p.K529M NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) CTCAAAAGGCTTATTTCCAGT 0.398000 34 72 0 0 0.769981 0 0 MBD1 4152 broad.mit.edu 37 18 47803524 47803524 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:47803524C>T ENST00000591416.1 - 3 592 c.161G>A c.(160-162)gGc>gAc p.G54D MBD1_ENST00000349085.2_Missense_Mutation_p.G54D|MBD1_ENST00000347968.3_Missense_Mutation_p.G54D|MBD1_ENST00000339998.6_Missense_Mutation_p.G54D|MBD1_ENST00000353909.3_Missense_Mutation_p.G54D|MBD1_ENST00000382948.5_Missense_Mutation_p.G54D|MBD1_ENST00000587605.1_Missense_Mutation_p.G54D|MBD1_ENST00000398488.1_Missense_Mutation_p.G54D|MBD1_ENST00000269471.5_Missense_Mutation_p.G54D|MBD1_ENST00000398493.1_Missense_Mutation_p.G54D|MBD1_ENST00000585672.1_Missense_Mutation_p.G54D|MBD1_ENST00000457839.2_Missense_Mutation_p.G54D|MBD1_ENST00000588937.1_Missense_Mutation_p.G54D|MBD1_ENST00000398495.2_Missense_Mutation_p.G54D|MBD1_ENST00000424334.2_Missense_Mutation_p.G80D|MBD1_ENST00000591535.1_Missense_Mutation_p.G54D|MBD1_ENST00000590208.1_Missense_Mutation_p.G54D|MBD1_ENST00000585595.1_Missense_Mutation_p.G54D|MBD1_ENST00000436910.1_Missense_Mutation_p.G54D|MBD1_ENST00000269468.5_Missense_Mutation_p.G54D Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 54 MBD. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 ACACGCAGGGCCCAGGTATCG 0.542000 16 37 0 0 0.479597 0 0 KCND2 3751 broad.mit.edu 37 7 120373017 120373017 + Silent SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:120373017G>C ENST00000331113.4 + 2 2141 c.1176G>C c.(1174-1176)ctG>ctC p.L392L NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 392 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TCTGTTCGCTGAGTGGGGTCT 0.413000 20 254 0 0 0.575678 0 0 EVC 2121 broad.mit.edu 37 4 5720978 5720978 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:5720978G>C ENST00000382674.2 + 2 362 c.178G>C c.(178-180)Gac>Cac p.D60H EVC_ENST00000509451.1_Missense_Mutation_p.D60H|EVC_ENST00000264956.6_Missense_Mutation_p.D60H P57679 EVC_HUMAN Ellis van Creveld syndrome 60 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) GTTTTAGAAAGACGACACTCA 0.527000 56 118 0 0 0.870114 0 0 SSX2IP 117178 broad.mit.edu 37 1 85136873 85136873 + Silent SNP T T C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:85136873T>C ENST00000342203.3 - 2 293 c.30A>G c.(28-30)ccA>ccG p.P10P SSX2IP_ENST00000605755.1_Intron|SSX2IP_ENST00000437941.2_Intron|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Silent_p.P10P NM_001166293.1|NM_001166294.1|NM_014021.3 NP_001159765.1|NP_001159766.1|NP_054740.3 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 10 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AAGACAGACCTGGATCTGTAA 0.353000 3 77 0 0 0.184627 0 0 WIPI1 55062 broad.mit.edu 37 17 66423293 66423293 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:66423293G>A ENST00000262139.5 - 11 1174 c.1175C>T c.(1174-1176)tCa>tTa p.S392L WIPI1_ENST00000589459.1_5'UTR|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000546360.1_Missense_Mutation_p.S310L NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 392 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 CGTGGAGGCTGAAGATGCACT 0.572000 6 57 0 0 0.278610 0 0 SLC22A23 63027 broad.mit.edu 37 6 3432473 3432473 + Translation_Start_Site SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:3432473C>A ENST00000490273.1 - 0 265 SLC22A23_ENST00000380302.4_Intron|SLC22A23_ENST00000436008.2_Intron|SLC22A23_ENST00000380298.2_Intron|SLC22A23_ENST00000406686.3_Intron NM_021945.5 NP_068764.3 A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 ion transport integral to membrane transmembrane transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) CACTGAGAGCCTGCGGCAGGA 0.572000 5 5 0.0215528 0.024646 0.217242 1 0 PCDHA11 56138 broad.mit.edu 37 5 140249780 140249780 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:140249780C>T ENST00000398640.2 + 1 1092 c.1092C>T c.(1090-1092)ccC>ccT p.P364P PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCTCAGCCCAGCACGGTCA 0.577000 25 45 0 0 0.681144 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814178 106814178 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:106814178C>T ENST00000407775.2 + 8 2118 c.1868C>T c.(1867-1869)aCa>aTa p.T623I RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T354I|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T491I|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T491I|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 623 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTTCTTCAAACATCTTGCATC 0.458000 52 98 0 0 0.870114 0 0 TYMS 7298 broad.mit.edu 37 18 670782 670782 + Nonsense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:670782C>A ENST00000323274.10 + 5 786 c.647C>A c.(646-648)tCg>tAg p.S216* TYMS_ENST00000323224.7_Nonsense_Mutation_p.S182*|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323250.5_Nonsense_Mutation_p.S133* NM_001071.2 NP_001062.1 P04818 TYSY_HUMAN thymidylate synthetase 216 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2) 8 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) TACCAGAGATCGGGAGACATG 0.592000 5 340 0.217242 0.241706 0.217242 1 0 C9orf41 138199 broad.mit.edu 37 9 77598775 77598775 + Nonsense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:77598775C>A ENST00000376834.3 - 8 1290 c.1138G>T c.(1138-1140)Gaa>Taa p.E380* RP11-197P3.4_ENST00000455609.1_RNA NM_152420.1 NP_689633.1 Q8N4J0 CI041_HUMAN chromosome 9 open reading frame 41 380 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2) 17 AATACAGATTCTTTTTCCACC 0.373000 4 39 0.000602214 0.000704962 0.184627 1 0 HLA-DQB1 3119 broad.mit.edu 37 6 32632627 32632627 + Silent SNP C C T rs1130389 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:32632627C>T ENST00000399084.1 - 3 505 c.327G>A c.(325-327)acG>acA p.T109T HLA-DQB1_ENST00000434651.2_Silent_p.T109T|HLA-DQB1_ENST00000374943.4_Silent_p.T109T|HLA-DQB1_ENST00000399079.3_Silent_p.T109T|HLA-DQB1_ENST00000399082.3_Intron P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 109 Beta-1. T -> R (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:04, allele DQB1*05:05 and allele DQB1*06:06; dbSNP:rs1130392). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTCTGCACACCGTGTCCAACT 0.682000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 4 64 0 0 0.217242 0 0 MYH3 4621 broad.mit.edu 37 17 10542452 10542452 + Nonsense_Mutation SNP T T A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:10542452T>A ENST00000583535.1 - 25 3244 c.3157A>T c.(3157-3159)Aaa>Taa p.K1053* MYH3_ENST00000226209.7_Nonsense_Mutation_p.K1053* NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1053 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 AATTTCCTTTTGTTCCTTTCC 0.443000 27 59 0 0 0.729181 0 0 ZNF567 163081 broad.mit.edu 37 19 37210537 37210537 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:37210537C>T ENST00000585696.1 + 3 2048 c.818C>T c.(817-819)aCa>aTa p.T273I ZNF567_ENST00000588311.1_Missense_Mutation_p.T273I|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.T304I|ZNF567_ENST00000360729.4_Missense_Mutation_p.T273I|ZNF567_ENST00000392163.2_Missense_Mutation_p.T273I Q8N184 ZN567_HUMAN zinc finger protein 567 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGAACTCACACAGGAGAGAAA 0.418000 18 38 0 0 0.539581 0 0 UBA2 10054 broad.mit.edu 37 19 34925867 34925867 + Missense_Mutation SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:34925867C>G ENST00000439527.2 + 5 663 c.165C>G c.(163-165)atC>atG p.I55M UBA2_ENST00000246548.4_Missense_Mutation_p.I151M Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 151 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TAACTACTATCAAAAAGGTAA 0.348000 3 6 0 0 0.115264 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140802115 140802115 + Missense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:140802115C>A ENST00000398587.2 + 1 1354 c.1321C>A c.(1321-1323)Ctg>Atg p.L441M PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.L441M|PCDHGA5_ENST00000518069.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATGTCTGGCTGAATGTGGC 0.522000 4 117 0.150653 0.169143 0.150653 1 0 TMSB10 9168 broad.mit.edu 37 2 85133174 85133174 + Silent SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:85133174C>G ENST00000233143.4 + 2 142 c.33C>G c.(31-33)gcC>gcG p.A11A NM_021103.3 NP_066926.1 P63313 TYB10_HUMAN thymosin beta 10 11 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding endometrium(1) 1 GGGAAATCGCCAGCTTCGATA 0.582000 13 35 0 0 0.435327 0 0 MEIS3 56917 broad.mit.edu 37 19 47910197 47910197 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:47910197C>T ENST00000331559.5 - 11 1554 c.1113G>A c.(1111-1113)caG>caA p.Q371Q MEIS3_ENST00000561293.1_Silent_p.Q388Q|MEIS3_ENST00000441740.2_Silent_p.Q325Q|MEIS3_ENST00000558555.1_Silent_p.Q342Q|MEIS3_ENST00000561096.1_Silent_p.Q430Q|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000559524.1_Silent_p.Q388Q NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 342 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) CCCCGATGGGCTGGCCCTCTG 0.706000 6 5 0 0 0.248553 0 0 ZNF407 55628 broad.mit.edu 37 18 72343705 72343705 + Missense_Mutation SNP T T G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:72343705T>G ENST00000299687.5 + 1 730 c.730T>G c.(730-732)Ttt>Gtt p.F244V ZNF407_ENST00000582337.1_Missense_Mutation_p.F244V|ZNF407_ENST00000577538.1_Missense_Mutation_p.F244V|ZNF407_ENST00000309902.6_Missense_Mutation_p.F244V NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 244 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) ACAGAAGGTCTTTTCCTGTGA 0.458000 56 59 0 0 0.870114 0 0 OR1S1 219959 broad.mit.edu 37 11 57983165 57983165 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:57983165C>T ENST00000309433.6 + 1 949 c.949C>T c.(949-951)Ctc>Ttc p.L317F NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 317 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) CCTGAGAAAGCTCATCAATAG 0.423000 43 80 0 0 0.870114 0 0 RCSD1 92241 broad.mit.edu 37 1 167666482 167666482 + Missense_Mutation SNP G G T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:167666482G>T ENST00000367854.3 + 6 952 c.621G>T c.(619-621)ttG>ttT p.L207F RCSD1_ENST00000537350.1_Missense_Mutation_p.L177F NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 207 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) ATGAAGTGTTGCCATCCAAGA 0.567000 64 190 5.52965e-18 7.04032e-18 0.870114 1 0 HDAC9 9734 broad.mit.edu 37 7 18705897 18705897 + Missense_Mutation SNP A A G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:18705897A>G ENST00000406451.3 + 12 1670 c.1520A>G c.(1519-1521)gAa>gGa p.E507G HDAC9_ENST00000401921.1_Missense_Mutation_p.E466G|HDAC9_ENST00000417496.2_Missense_Mutation_p.E505G|HDAC9_ENST00000428307.2_Missense_Mutation_p.E463G|HDAC9_ENST00000441542.2_Missense_Mutation_p.E510G|HDAC9_ENST00000406072.1_Missense_Mutation_p.E494G|HDAC9_ENST00000432645.2_Missense_Mutation_p.E507G|HDAC9_ENST00000405010.3_Missense_Mutation_p.E507G|HDAC9_ENST00000456174.2_Missense_Mutation_p.E479G|HDAC9_ENST00000524023.1_Missense_Mutation_p.E430G NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 507 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GAAGCAGAGGAAGAGCTTCAG 0.517000 OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 116 182 0 0 0.870114 0 0 ASH1L 55870 broad.mit.edu 37 1 155451020 155451020 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:155451020G>C ENST00000368346.3 - 3 2280 c.1641C>G c.(1639-1641)ttC>ttG p.F547L ASH1L_ENST00000392403.3_Missense_Mutation_p.F547L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 547 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTACTGCACTGAATGGGGATT 0.448000 12 129 0 0 0.411799 0 0 PPP6R2 9701 broad.mit.edu 37 22 50879301 50879301 + Missense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr22:50879301C>A ENST00000359139.3 + 21 2741 c.2347C>A c.(2347-2349)Ccc>Acc p.P783T PPP6R2_ENST00000395741.3_Missense_Mutation_p.P783T|PPP6R2_ENST00000395744.3_Missense_Mutation_p.P782T|PPP6R2_ENST00000216061.5_Missense_Mutation_p.P816T NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 816 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CAGGAAGGCCCCCCTGCTGGC 0.652000 4 70 0.00909568 0.0104495 0.150653 1 0 FAM47B 170062 broad.mit.edu 37 X 34961804 34961804 + Nonsense_Mutation SNP G G T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:34961804G>T ENST00000329357.5 + 1 892 c.856G>T c.(856-858)Gag>Tag p.E286* NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 286 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TCTCTGCCCGGAGCCTCCCGA 0.617000 87 208 1.7318e-42 2.31219e-42 0.870114 1 0 MTOR 2475 broad.mit.edu 37 1 11288885 11288885 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:11288885C>T ENST00000361445.4 - 19 2946 c.2870G>A c.(2869-2871)cGg>cAg p.R957Q NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 957 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TCGGAAGATCCGCATCAGGGC 0.507000 53 97 0 0 0.870114 0 0 TRIM33 51592 broad.mit.edu 37 1 114967296 114967296 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:114967296C>T ENST00000358465.2 - 10 1860 c.1777G>A c.(1777-1779)Gct>Act p.A593T TRIM33_ENST00000369543.2_Missense_Mutation_p.A593T|TRIM33_ENST00000450349.2_Missense_Mutation_p.A201T NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 593 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCATTCTGAGCCAGTCTCATC 0.473000 T RET papillary thyroid 4 107 0 0 0.150653 0 0 BZW2 28969 broad.mit.edu 37 7 16734617 16734617 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:16734617C>T ENST00000433922.2 + 8 988 c.810C>T c.(808-810)tgC>tgT p.C270C BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000407633.1_Silent_p.C76C|BZW2_ENST00000405202.1_Silent_p.C194C|BZW2_ENST00000258761.3_Silent_p.C270C NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 270 W2. cell differentiation|nervous system development|RNA metabolic process protein binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) CTCAGGAATGCCCGATCAAGG 0.532000 3 49 0 0 0.150653 0 0 FANCL 55120 broad.mit.edu 37 2 58387257 58387257 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:58387257G>C ENST00000402135.3 - 13 1129 c.1093C>G c.(1093-1095)Cca>Gca p.P365A FANCL_ENST00000403676.1_Missense_Mutation_p.P243A|FANCL_ENST00000403295.3_Missense_Mutation_p.P332A|FANCL_ENST00000233741.4_Missense_Mutation_p.P360A NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L 360 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8 CTACAATATGGACATTCACCA 0.328000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 15 46 0 0 0.500413 0 0 CRISP2 7180 broad.mit.edu 37 6 49667525 49667525 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:49667525C>T ENST00000339139.4 - 6 499 c.263G>A c.(262-264)cGc>cAc p.R88H NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 88 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) actggttttgcggtcctctgG 0.338000 3 15 0 0 0.184627 0 0 TTC24 164118 broad.mit.edu 37 1 156554994 156554994 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:156554994C>T ENST00000368236.3 + 8 1463 c.1427C>T c.(1426-1428)cCg>cTg p.P476L TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Missense_Mutation_p.P476L NM_001105669.2 NP_001099139.2 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 476 binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 20 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCAAACGTTCCGGTGAGGGCT 0.577000 18 83 0 0 0.608945 0 0 ITM2C 81618 broad.mit.edu 37 2 231740344 231740344 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:231740344G>C ENST00000326427.6 + 3 397 c.271G>C c.(271-273)Gat>Cat p.D91H ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000409704.2_Missense_Mutation_p.D29H|ITM2C_ENST00000335005.6_Missense_Mutation_p.D44H|ITM2C_ENST00000326407.6_Missense_Mutation_p.D91H NM_030926.4 NP_112188.1 Q9NQX7 ITM2C_HUMAN integral membrane protein 2C 91 negative regulation of neuron projection development|neuron differentiation Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm beta-amyloid binding cervix(2)|lung(1)|ovary(1)|skin(1) 5 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GCTGGCCCGAGATAACTTCTT 0.572000 30 54 0 0 0.779181 0 0 OR2L3 391192 broad.mit.edu 37 1 248224035 248224035 + Missense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:248224035C>A ENST00000359959.3 + 1 52 c.52C>A c.(52-54)Cca>Aca p.P18T OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AGGATTCTTCCCACCATCAAG 0.388000 101 354 9.40513e-36 1.24896e-35 0.870114 1 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 19 0 0 0.217242 0 0 PRRT1 80863 broad.mit.edu 37 6 32117121 32117121 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:32117121C>T ENST00000211413.5 - 4 923 c.799G>A c.(799-801)Gag>Aag p.E267K PRRT1_ENST00000375152.2_Missense_Mutation_p.E186K|PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375150.2_Missense_Mutation_p.E186K NM_030651.3 NP_085154.3 Q99946 PRRT1_HUMAN proline-rich transmembrane protein 1 267 response to biotic stimulus integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(2) 6 TTCCGGGCCTCGCGTGAAGCG 0.657000 3 53 0 0 0.150653 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735807 55735807 + Missense_Mutation SNP C C A rs139897319 byFrequency TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:55735807C>A ENST00000312345.2 - 1 183 c.133G>T c.(133-135)Gct>Tct p.A45S NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) GTCTGGAGAGCGGGGTGAATT 0.348000 24 43 1.64293e-13 2.05992e-13 0.654019 1 0 GPR123 84435 broad.mit.edu 37 10 134896057 134896057 + Silent SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:134896057C>T ENST00000607359.1 + 6 1143 c.1143C>T c.(1141-1143)gcC>gcT p.A381A Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CTCCACAAGCCTTCAGCAAAA 0.567000 2 5 0 0 0.115264 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174200395 174200395 + Silent SNP A A G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:174200395A>G ENST00000251507.4 + 4 618 c.444A>G c.(442-444)gaA>gaG p.E148E RABGAP1L_ENST00000357444.6_Silent_p.E111E|RABGAP1L_ENST00000367689.3_5'UTR NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 148 PID. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 CACGTAATGAAGTAGAGGCTT 0.428000 119 301 0 0 0.870114 0 0 LINC00869 57234 broad.mit.edu 37 1 149285898 149285898 + RNA SNP G G C rs140070396 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:149285898G>C ENST00000424684.1 + 0 254 NR_046136.1|NR_046138.1|NR_046139.1 TATGCCTCACGGTTTAGCAGA 0.453000 3 22 0 0 0.150653 0 0 PIEZO2 63895 broad.mit.edu 37 18 10689731 10689731 + Missense_Mutation SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:10689731C>G ENST00000302079.6 - 45 7079 c.7080G>C c.(7078-7080)ttG>ttC p.L2360F PIEZO2_ENST00000503781.3_Missense_Mutation_p.L2360F|PIEZO2_ENST00000285141.4_Missense_Mutation_p.L215F|PIEZO2_ENST00000538948.1_Missense_Mutation_p.L317F|PIEZO2_ENST00000580640.1_Missense_Mutation_p.L2385F Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2360 integral to membrane ion channel activity TGGACAGGCTCAAAGTTGTGT 0.537000 3 122 0 0 0.115264 0 0 LRP6 4040 broad.mit.edu 37 12 12339962 12339962 + Missense_Mutation SNP T T C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:12339962T>C ENST00000261349.4 - 4 815 c.739A>G c.(739-741)Att>Gtt p.I247V LRP6_ENST00000543091.1_Missense_Mutation_p.I247V NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 247 Beta-propeller 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CAAGCCAAAATGGAGTGTGTG 0.468000 8 96 0 0 0.278610 0 0 COPB2 9276 broad.mit.edu 37 3 139102206 139102206 + Silent SNP A A G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:139102206A>G ENST00000333188.5 - 2 256 c.75T>C c.(73-75)ccT>ccC p.P25P COPB2_ENST00000510491.1_5'UTR|COPB2_ENST00000507777.1_5'UTR NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 25 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 ATGGCTCTGTAGGATGCAGAT 0.358000 3 59 0 0 0.115264 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811550 5811550 + Missense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:5811550C>A ENST00000381095.3 - 6 2386 c.1759G>T c.(1759-1761)Gtg>Ttg p.V587L NLGN4X_ENST00000381092.1_Missense_Mutation_p.V587L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.V587L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.V587L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V607L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 587 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CAGAAAGCCACTTTCGTTGCC 0.458000 105 238 6.71872e-74 9.06843e-74 0.870114 1 0 CYP2C19 1557 broad.mit.edu 37 10 96602692 96602692 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:96602692G>A ENST00000371321.3 + 7 1142 c.1060G>A c.(1060-1062)Gag>Aag p.E354K CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 354 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TGTGGTGCACGAGGTCCAGAG 0.532000 6 88 0 0 0.278610 0 0 WNT9B 7484 broad.mit.edu 37 17 44950115 44950115 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:44950115G>A ENST00000393461.2 + 2 363 c.310G>A c.(310-312)Ggc>Agc p.G104S WNT9B_ENST00000290015.2_Missense_Mutation_p.G104S O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 104 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) TAGCCTGGAGGGCAGGATGGG 0.672000 10 27 0 0 0.361761 0 0 CNTN5 53942 broad.mit.edu 37 11 100170120 100170120 + Missense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:100170120C>A ENST00000524871.1 + 20 2902 c.2612C>A c.(2611-2613)gCt>gAt p.A871D CNTN5_ENST00000527185.1_Missense_Mutation_p.A871D|CNTN5_ENST00000418526.2_Missense_Mutation_p.A797D|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.A871D|CNTN5_ENST00000279463.3_Missense_Mutation_p.A871D NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 871 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATCTGTTCAGCTGAAGGAGGT 0.323000 30 27 1.08312e-15 1.36495e-15 0.740014 1 0 LAMA2 3908 broad.mit.edu 37 6 129637259 129637259 + Missense_Mutation SNP A A G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:129637259A>G ENST00000421865.2 + 27 4050 c.4001A>G c.(4000-4002)tAt>tGt p.Y1334C NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1334 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GATATACTATATGATATTCAT 0.333000 9 70 0 0 0.335167 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171765474 171765474 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:171765474G>A ENST00000311601.5 - 13 2805 c.2635C>T c.(2635-2637)Cgg>Tgg p.R879W SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 879 SH3 4. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTCTTCTCCCGGACTTCAAAC 0.557000 5 34 0 0 0.217242 0 0 ASH1L 55870 broad.mit.edu 37 1 155451713 155451713 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:155451713G>A ENST00000368346.3 - 3 1587 c.948C>T c.(946-948)ttC>ttT p.F316F ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Silent_p.F316F Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 316 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTTTATTAATGAATACCGCTG 0.398000 6 154 0 0 0.248553 0 0 OR52E4 390081 broad.mit.edu 37 11 5906390 5906390 + Missense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:5906390C>A ENST00000316987.2 + 1 890 c.868C>A c.(868-870)Cct>Act p.P290T NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCCTTAACCCTGTCATTTA 0.358000 35 63 2.47316e-13 3.0852e-13 0.779181 1 0 PRDM14 63978 broad.mit.edu 37 8 70978723 70978723 + Missense_Mutation SNP A A T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:70978723A>T ENST00000276594.2 - 5 1131 c.930T>A c.(928-930)caT>caA p.H310Q NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 310 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) AGTGGCTCAAATGACCATCTT 0.373000 34 57 0 0 0.788014 0 0 AKAP13 11214 broad.mit.edu 37 15 86270342 86270342 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:86270342G>C ENST00000394518.2 + 28 6963 c.6868G>C c.(6868-6870)Gaa>Caa p.E2290Q AKAP13_ENST00000361243.2_Missense_Mutation_p.E2294Q|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.E535Q|RP11-158M2.2_ENST00000561417.1_RNA NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2290 Interaction with ESR1.|PH. 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|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.E370*(1)|p.E2294*(1) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GATTGTGAGAGAAGTGGCACA 0.423000 38 151 0 0 0.847076 0 0 OR2W3 343171 broad.mit.edu 37 1 248059181 248059181 + Missense_Mutation SNP C C G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:248059181C>G ENST00000537741.1 + 3 550 c.293C>G c.(292-294)gCc>gGc p.A98G OR2W3_ENST00000360358.3_Missense_Mutation_p.A98G Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ATGGGCTGTGCCATCCAGCTC 0.567000 47 150 0 0 0.870114 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271336 26271336 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:26271336G>C ENST00000305910.3 - 1 276 c.277C>G c.(277-279)Ctg>Gtg p.L93V NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 93 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 GCCTCCTGCAGGGCCATCACC 0.557000 78 141 0 0 0.870114 0 0 FLJ33360 401172 broad.mit.edu 37 5 6311837 6311837 + RNA SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:6311837G>A ENST00000507444.1 - 0 1135 NR_028351.1 TGCAGGCTATGGACATGATTA 0.527000 2 6 0 0 0.150653 0 0 MEGF10 84466 broad.mit.edu 37 5 126738350 126738350 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:126738350G>A ENST00000274473.6 + 9 1160 c.893G>A c.(892-894)tGc>tAc p.C298Y MEGF10_ENST00000418761.2_Missense_Mutation_p.C298Y|MEGF10_ENST00000503335.2_Missense_Mutation_p.C298Y|MEGF10_ENST00000508365.1_Missense_Mutation_p.C298Y NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 298 EGF-like 5.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CAATGTCATTGCAGTCCAGGA 0.512000 31 60 0 0 0.760397 0 0 FADS2 9415 broad.mit.edu 37 11 61608169 61608169 + Missense_Mutation SNP T T C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:61608169T>C ENST00000278840.4 + 4 1220 c.590T>C c.(589-591)gTc>gCc p.V197A FADS2_ENST00000521849.1_Missense_Mutation_p.V197A|FADS2_ENST00000522056.1_Missense_Mutation_p.V166A|FADS2_ENST00000257261.6_Missense_Mutation_p.V175A NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 197 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) AACCACCTTGTCCACAAATTC 0.532000 48 90 0 0 0.870114 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22472993 22472993 + RNA SNP T T G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:22472993T>G ENST00000557788.2 - 0 277 GTTCTTGGACTTGTCTACTGA 0.567000 62 678 0 0 0.870114 0 0 RYR3 6263 broad.mit.edu 37 15 33878260 33878260 + Silent SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:33878260G>A ENST00000389232.4 + 16 1801 c.1731G>A c.(1729-1731)gcG>gcA p.A577A RYR3_ENST00000415757.3_Silent_p.A577A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 577 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATCTGATAGCGGAGGGCCACA 0.448000 16 63 0 0 0.520397 0 0 TTLL10 254173 broad.mit.edu 37 1 1116222 1116223 + Frame_Shift_Ins INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:1116222_1116223insG ENST00000379290.1 + 8 910_911 c.737_738insG c.(736-738)cggfs p.R246fs TTLL10_ENST00000379288.3_Frame_Shift_Ins_p.R173fs|TTLL10_ENST00000379289.1_Frame_Shift_Ins_p.R246fs Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 246 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGCAAGGTGCCGGGGGGGGTCC 0.723 3 5 --- --- --- --- LOC284632 284632 broad.mit.edu 37 1 24529611 24529627 + RNA DEL CCCTGCTGCCCACACAT CCCTGCTGCCCACACAT - rs71029527 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:24529611_24529627delCCCTGCTGCCCACACAT ENST00000439059.2 + 0 288 NR_027087.2 TCCCACACACCCCTGCTGCCCACACATCCCTGCTGCC 0.604 3 5 --- --- --- --- RP11-84A19.4 0 broad.mit.edu 37 1 32343068 32343069 + RNA DEL TG TG - rs67296204 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:32343068_32343069delTG ENST00000602889.1 - 0 485 tatgtgtatatgtgtgtgtgtg 0.441 2 4 --- --- --- --- PPIEL 728448 broad.mit.edu 37 1 40010094 40010095 + RNA INS - - A rs111914393 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:40010094_40010095insA ENST00000440190.1 - 0 455 RP11-69E11.4_ENST00000417869.1_RNA ctgtctcaaagaaaaaaaaaaT 0.411 2 4 --- --- --- --- MKNK1-AS1 100507423 broad.mit.edu 37 1 47006217 47006218 + RNA DEL AC AC - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:47006217_47006218delAC ENST00000602433.1 + 0 99 NR_038403.1 Gcatgcacgaacacacacacac 0.495 4 4 --- --- --- --- LOC101926964 101926964 broad.mit.edu 37 1 61238213 61238213 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:61238213delT ENST00000423403.1 - 0 249 tttcTTTTCCttttttttttt 0.378 2 4 --- --- --- --- RP11-550H2.2 0 broad.mit.edu 37 1 76509082 76509083 + RNA INS - - GGGA TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:76509082_76509083insGGGA ENST00000434540.1 + 0 208 aaaaaGGGGGGGGGAATGAAAG 0.386 3 5 --- --- --- --- RP11-415A20.1 0 broad.mit.edu 37 1 77231836 77231837 + RNA DEL CA CA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:77231836_77231837delCA ENST00000427806.1 - 0 278 cacacatatgcacacacacaca 0.396 2 4 --- --- --- --- LOC101927587 101927587 broad.mit.edu 37 1 84195665 84195666 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:84195665_84195666insG ENST00000417975.1 - 0 280 TGTGGCTTAAAGGGGGGGTGTC 0.416 2 4 --- --- --- --- LOC101927587 101927587 broad.mit.edu 37 1 84271402 84271405 + RNA DEL ATAC ATAC - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:84271402_84271405delATAC ENST00000417975.1 - 0 178 GCACTCAGCAatacatacatacat 0.275 2 4 --- --- --- --- SPATA1 100505741 broad.mit.edu 37 1 84975449 84975450 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:84975449_84975450insA ENST00000370638.2 + 0 128 spermatogenesis associated 1 breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1) 10 Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111) acccatctctcaaaaaaagaaa 0.455 2 4 --- --- --- --- LINC01057 101928079 broad.mit.edu 37 1 95199587 95199588 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:95199587_95199588insT ENST00000452922.1 - 0 326 CTAAGCTCTGATTTTTTTTTTT 0.450 3 3 --- --- --- --- LOC729970 729970 broad.mit.edu 37 1 95415566 95415567 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:95415566_95415567insC ENST00000438509.1 + 0 489 RP4-639F20.1_ENST00000452846.1_RNA NR_033998.1 ggataaattaaccccccagcag 0.475 2 4 --- --- --- --- LOC101928241 101928241 broad.mit.edu 37 1 96798832 96798833 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:96798832_96798833insT ENST00000435311.1 - 0 165 tttccatgctgttttcataatg 0.332 2 4 --- --- --- --- LPPR4 9890 broad.mit.edu 37 1 99771800 99771801 + Frame_Shift_Ins INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:99771800_99771801insC ENST00000370185.3 + 7 2023_2024 c.1526_1527insC c.(1525-1527)gccfs p.A509fs LPPR4_ENST00000370184.1_Frame_Shift_Ins_p.A351fs|LPPR4_ENST00000457765.1_Frame_Shift_Ins_p.A451fs NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 509 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCTGGCGCTGTCCCCGGATGTA 0.554 7 676 --- --- --- --- LOC101928270 101928270 broad.mit.edu 37 1 99972212 99972212 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:99972212delA ENST00000438829.2 - 0 23 cccaacctccaaaaaaaaaaa 0.418 4 5 --- --- --- --- RP11-202K23.1 0 broad.mit.edu 37 1 102701953 102701953 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:102701953delA ENST00000447916.1 - 0 398 AAAACCTAGTAAAAAAAAAAG 0.313 5 1 --- --- --- --- RP11-202K23.1 0 broad.mit.edu 37 1 102717195 102717196 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:102717195_102717196insA ENST00000447916.1 - 0 398 gagctaaaaacaaaaaaacaag 0.376 2 4 --- --- --- --- RP11-202K23.1 0 broad.mit.edu 37 1 102837518 102837519 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:102837518_102837519insA ENST00000447916.1 - 0 339 tgacatcatggaaaatcataac 0.366 2 4 --- --- --- --- LOC440600 440600 broad.mit.edu 37 1 110850157 110850157 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:110850157delG ENST00000449169.1 - 0 293 NR_036595.1 GGCCTTCCTCGGACTGTCTCT 0.522 2 4 --- --- --- --- RP4-543J13.1 0 broad.mit.edu 37 1 114765696 114765697 + RNA INS - - TGAA rs77396891 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:114765696_114765697insTGAA ENST00000420156.2 - 0 73 tgaacatttgCtgaatgaatga 0.401 7 1 --- --- --- --- RP4-543J13.1 0 broad.mit.edu 37 1 114769283 114769283 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:114769283delA ENST00000420156.2 - 0 73 tTTCTGCTCTAAATACGCAGG 0.363 2 4 --- --- --- --- LOC101929147 101929147 broad.mit.edu 37 1 119768626 119768626 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:119768626delG ENST00000418015.1 + 0 430 RP11-418J17.1_ENST00000413531.1_RNA CCAAAAGGCTGGAAATCCGGG 0.532 2 4 --- --- --- --- LINC01527 101927988 broad.mit.edu 37 1 152917117 152917120 + RNA DEL GTGC GTGC - rs112260225 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:152917117_152917120delGTGC ENST00000419578.1 - 0 225 gtgtgtgtgtgtgcgtgtgtgtgt 0.451 3 6 --- --- --- --- SPRR1A 6698 broad.mit.edu 37 1 152957687 152957688 + Splice_Site INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:152957687_152957688insA ENST00000307122.2 + 2 45_46 c.e2-1 NM_001199828.1|NM_005987.3 NP_001186757.1|NP_005978.2 P35321 SPR1A_HUMAN small proline-rich protein 1A keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1) 7 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TCTGTCTCTAGAAAAAAACACA 0.441 9 590 --- --- --- --- RP11-479J7.1 0 broad.mit.edu 37 1 166357795 166357795 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:166357795delA ENST00000448643.1 - 0 176 CCCTCCTCCCAAACTATGCTC 0.358 2 4 --- --- --- --- RP11-479J7.1 0 broad.mit.edu 37 1 166390944 166390945 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:166390944_166390945insT ENST00000448643.1 - 0 176 TACAATGCACCTTTTTTTGTCT 0.421 6 7 --- --- --- --- LINC00970 101978719 broad.mit.edu 37 1 168995988 168995989 + RNA INS - - A rs146170109 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:168995988_168995989insA ENST00000366408.3 - 0 209 tgcaaaagattaaaaaaaaaaa 0.381 3 3 --- --- --- --- RP3-436N22.3 0 broad.mit.edu 37 1 173572398 173572398 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:173572398delT ENST00000431459.1 + 0 528 TTTTAACTGATTTTTTTTTTT 0.333 4 3 --- --- --- --- RP1-35C21.2 0 broad.mit.edu 37 1 177509690 177509691 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:177509690_177509691insA ENST00000438575.1 - 0 296 aataaaagtttaaaaaCAGTAA 0.366 2 4 --- --- --- --- LINC01036 104169671 broad.mit.edu 37 1 187065809 187065809 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:187065809delT ENST00000458683.1 + 0 105 AAACAATGACTTTACTAAAAT 0.279 2 4 --- --- --- --- LOC440704 440704 broad.mit.edu 37 1 190689742 190689743 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:190689742_190689743insT ENST00000413356.1 + 0 144 NR_033922.1 AACTGGAGCACTTTTttttctt 0.342 2 4 --- --- --- --- RP11-541F9.2 0 broad.mit.edu 37 1 191926496 191926497 + RNA DEL AA AA - rs77455133 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:191926496_191926497delAA ENST00000430776.1 + 0 206 TACTTTTACGAAAAAAAAAAAA 0.327 2 4 --- --- --- --- RP11-541F9.2 0 broad.mit.edu 37 1 191926811 191926812 + RNA INS - - CC rs35449270 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:191926811_191926812insCC ENST00000430776.1 + 0 206 AGGCCCCACTTCCCCCCCCCAC 0.391 2 4 --- --- --- --- RP11-21J7.1 0 broad.mit.edu 37 1 193694149 193694150 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:193694149_193694150insA ENST00000448412.1 + 0 112 AAGATCCATTTAAAAAGTTATC 0.460 2 4 --- --- --- --- LINC00862 554279 broad.mit.edu 37 1 200325321 200325324 + RNA DEL AAAC AAAC - rs138089019 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:200325321_200325324delAAAC ENST00000367355.1 - 0 550 NR_040064.1 CTCCAGCTGTAAACAGTCCTTCTG 0.402 8 1 --- --- --- --- LOC101929565 101929565 broad.mit.edu 37 1 212726397 212726400 + RNA DEL AAAG AAAG - rs72241615 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:212726397_212726400delAAAG ENST00000423842.1 + 0 72 aacAGTTTCAaaagaaagaaagaa 0.480 4 4 --- --- --- --- RP11-323I1.1 0 broad.mit.edu 37 1 213905703 213905704 + RNA INS - - GTGTGTGT rs1771902 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:213905703_213905704insGTGTGTGT ENST00000456240.1 + 0 143 tgtgcgtgtgcgtgtgtgtgtg 0.366 5 6 --- --- --- --- PROX1-AS1 100505832 broad.mit.edu 37 1 214133972 214133978 + RNA DEL TTTTTTT TTTTTTT - rs66925105 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:214133972_214133978delTTTTTTT ENST00000433082.2 - 0 195 PROX1-AS1_ENST00000601744.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000601854.1_RNA ttcatttttcttttttttttttttttt 0.319 2 4 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222546068 222546069 + RNA INS - - T rs11297974 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:222546068_222546069insT ENST00000416510.1 - 0 167 GTCCTGGGAAATTTTTTTTGAG 0.441 4 5 --- --- --- --- RP4-781K5.7 0 broad.mit.edu 37 1 234853661 234853661 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:234853661delA ENST00000422414.1 + 0 463 AACAAACCATAAGGAAATCCT 0.433 2 4 --- --- --- --- RP11-278H7.4 0 broad.mit.edu 37 1 244235283 244235283 + RNA DEL T T - rs11367340 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr1:244235283delT ENST00000441338.1 - 0 360 ACTCCAAttcttttttttttt 0.483 3 3 --- --- --- --- AC092159.2 0 broad.mit.edu 37 2 678423 678424 + RNA INS - - C rs35683073 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:678423_678424insC ENST00000445418.1 + 0 288 TGGCTTTCCTGGtttttttttt 0.480 4 3 --- --- --- --- AC144450.1 0 broad.mit.edu 37 2 1614945 1614946 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:1614945_1614946insG ENST00000438247.1 - 0 515 ATGAGAAGGGTCCCCAGCTGCC 0.614 2 4 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 2948835 2948836 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:2948835_2948836insA ENST00000457478.1 - 0 594 cccatctctacaaaaaatacaa 0.510 2 4 --- --- --- --- LINC00570 100874055 broad.mit.edu 37 2 11540973 11540985 + RNA DEL TTTTTTTTTTTTT TTTTTTTTTTTTT - rs59941968 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:11540973_11540985delTTTTTTTTTTTTT ENST00000417473.2 + 0 277 NR_047499.1 TTTCCTGTGGttttttttttttttttttttttt 0.465 2 4 --- --- --- --- LINC00276 100499171 broad.mit.edu 37 2 13888967 13888968 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:13888967_13888968insA ENST00000420828.1 + 0 238 agagacacaacaaaaaaagaaa 0.381 2 4 --- --- --- --- LINC00276 100499171 broad.mit.edu 37 2 14440768 14440768 + RNA DEL T T - rs113774366 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:14440768delT ENST00000418420.1 - 0 251 NR_103814.1 AAACAATTTCTTTTTTTTTTT 0.398 2 4 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22258056 22258056 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:22258056delG ENST00000450551.1 - 0 200 AAAACATTCAGGTTTCTTGTA 0.363 2 4 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22708272 22708273 + RNA INS - - CA rs148195258 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:22708272_22708273insCA ENST00000450551.1 - 0 70 gcacacacacgcacacacacac 0.480 2 4 --- --- --- --- AC016768.1 0 broad.mit.edu 37 2 23305758 23305760 + RNA DEL TTG TTG - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:23305758_23305760delTTG ENST00000421581.1 - 0 91 tctttactctttgttgttgttgt 0.315 2 4 --- --- --- --- SRD5A2 6716 broad.mit.edu 37 2 31783174 31783175 + RNA INS - - G rs138457690 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:31783174_31783175insG ENST00000405650.1 - 0 447 AL133247.2_ENST00000435713.1_RNA P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) ACATAAAAATCGGGGGGAGTTT 0.406 3 3 --- --- --- --- AC073218.1 0 broad.mit.edu 37 2 34628067 34628067 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:34628067delA ENST00000422558.1 + 0 475 CACTGTCACCAAAAAGGTGAG 0.413 2 4 --- --- --- --- AC073218.1 0 broad.mit.edu 37 2 34820879 34820880 + RNA INS - - T rs113104525 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:34820879_34820880insT ENST00000422558.1 + 0 475 TGTTCTCTGTGTTTTTGGCTTG 0.376 2 4 --- --- --- --- LOC728730 728730 broad.mit.edu 37 2 39812231 39812232 + RNA INS - - TT rs138422104 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:39812231_39812232insTT ENST00000449569.1 + 0 538 AC007246.3_ENST00000451547.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000446698.1_RNA|AC007246.3_ENST00000438649.1_RNA|AC007246.3_ENST00000415640.1_RNA|AC007246.3_ENST00000425775.1_RNA NR_037875.1 GCTGTCCATCAttttttttttt 0.460 5 3 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59787805 59787806 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:59787805_59787806insA ENST00000606382.1 - 0 236 gactccgtctcaaaaaaaGAGG 0.480 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60070110 60070110 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:60070110delC ENST00000606382.1 - 0 110 TACAGCTTTTCCACAATTTAG 0.373 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60189854 60189857 + RNA DEL TGTA TGTA - rs10198220 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:60189854_60189857delTGTA ENST00000606382.1 - 0 110 tgtgtgtgtgtgtatgtgtgtgtg 0.451 2 4 --- --- --- --- AC092155.4 0 broad.mit.edu 37 2 62840134 62840134 + RNA DEL A A - rs112026614 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:62840134delA ENST00000416111.1 - 0 504 AC092155.4_ENST00000444672.1_RNA actccatctcaaaaaaaaaaa 0.423 4 2 --- --- --- --- AC010987.5 0 broad.mit.edu 37 2 67823593 67823594 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:67823593_67823594insT ENST00000419809.1 - 0 126 agatgatttcatttttttgact 0.243 2 4 --- --- --- --- DNAH6 1768 broad.mit.edu 37 2 84752795 84752796 + Frame_Shift_Ins INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:84752795_84752796insA ENST00000389394.3 + 3 469_470 c.332_333insA c.(331-333)gaafs p.E111fs DNAH6_ENST00000398278.2_Frame_Shift_Ins_p.E111fs|DNAH6_ENST00000237449.6_Frame_Shift_Ins_p.E111fs|DNAH6_ENST00000468661.1_3'UTR NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 111 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 GTAAGCATAGCAAAAAAAAGTT 0.327 2 4 --- --- --- --- LINC00152 112597 broad.mit.edu 37 2 87781972 87781973 + RNA INS - - CA rs61151810 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:87781972_87781973insCA ENST00000409054.1 + 0 278 NR_015395.1 ccacacacacccacacacacac 0.460 3 5 --- --- --- --- LINC01102 150568 broad.mit.edu 37 2 105068302 105068303 + RNA DEL CA CA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:105068302_105068303delCA ENST00000451400.1 + 0 1257 catatatgtgcacacacacaca 0.361 2 4 --- --- --- --- LINC01158 100506421 broad.mit.edu 37 2 105454091 105454091 + RNA DEL A A - rs143965918 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:105454091delA ENST00000458253.1 - 0 147 AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000413121.1_RNA AGGCTCAATGAAAAAAAAATG 0.338 2 4 --- --- --- --- AC009312.1 0 broad.mit.edu 37 2 118535655 118535656 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:118535655_118535656insT ENST00000457110.1 - 0 161 agtaattatcctttttttcctt 0.332 2 4 --- --- --- --- GLI2 2736 broad.mit.edu 37 2 121746948 121746948 + Frame_Shift_Del DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:121746948delC ENST00000452319.1 + 14 3518 c.3458delC c.(3457-3459)acfs p.T1153fs GLI2_ENST00000361492.4_Frame_Shift_Del_p.T1153fs|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1153 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) AGCTCCGGCACCGTAGACGCC 0.622 10 31 --- --- --- --- NIFK-AS1 254128 broad.mit.edu 37 2 122460034 122460034 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:122460034delA ENST00000419902.1 + 0 497 NR_037857.1 actccatctcaaaaaaaaaaa 0.532 2 4 --- --- --- --- AC068483.1 0 broad.mit.edu 37 2 129821803 129821803 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:129821803delA ENST00000413403.1 - 0 275 TTCCACGCTGAAAAGACTCTG 0.383 2 4 --- --- --- --- RN7SKP141 0 broad.mit.edu 37 2 137148042 137148042 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:137148042delT ENST00000516167.1 + 0 141 aaggatgcccttcccagacag 0.478 2 4 --- --- --- --- AC097721.2 0 broad.mit.edu 37 2 139219698 139219699 + RNA INS - - T rs149466602 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:139219698_139219699insT ENST00000431985.1 - 0 506 tcttctgtttcttttttttttt 0.431 3 3 --- --- --- --- AC062021.1 0 broad.mit.edu 37 2 140124371 140124372 + RNA DEL TG TG - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:140124371_140124372delTG ENST00000429008.1 + 0 38 AATAtgtgcatgtgtgtgtgtg 0.406 3 3 --- --- --- --- TEX41 401014 broad.mit.edu 37 2 145763395 145763395 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:145763395delA ENST00000445791.1 + 0 307 NR_033870.2 TGTGTAAAATAATCATTCACT 0.303 2 4 --- --- --- --- SLC4A10 57282 broad.mit.edu 37 2 162430250 162430251 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:162430250_162430251insT ENST00000605990.1 + 0 344 tgatttcattctttttttttat 0.366 2 4 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 164919636 164919636 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:164919636delT ENST00000429636.1 - 0 196 TGCCCCCCTCttttttttttg 0.498 2 4 --- --- --- --- AC013463.2 0 broad.mit.edu 37 2 165918094 165918095 + RNA INS - - AA rs59612423 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:165918094_165918095insAA ENST00000431341.1 + 0 299 cacacacacacacacacacaca 0.450 3 4 --- --- --- --- AC007319.1 0 broad.mit.edu 37 2 188141592 188141593 + RNA DEL AA AA - rs112661674 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:188141592_188141593delAA ENST00000412276.1 + 0 189 AC007319.1_ENST00000453517.1_RNA gactccacccaaaaaaaaaaaa 0.287 2 4 --- --- --- --- AC007319.1 0 broad.mit.edu 37 2 188151806 188151806 + RNA DEL T T - rs111291941 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:188151806delT ENST00000412276.1 + 0 189 AC007319.1_ENST00000453517.1_RNA CCTGACATCATTTTCCAAACA 0.403 2 4 --- --- --- --- AC079613.1 0 broad.mit.edu 37 2 189585899 189585900 + RNA DEL AT AT - rs150033178 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:189585899_189585900delAT ENST00000431708.1 - 0 218 ATTTTAAAACATGTGTGACTTC 0.366 3 3 --- --- --- --- AC093388.3 0 broad.mit.edu 37 2 191431469 191431470 + RNA INS - - A rs145318291 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:191431469_191431470insA ENST00000457407.1 + 0 374 agaaagaaaagaaaaaaaaaga 0.406 3 6 --- --- --- --- AC098617.1 0 broad.mit.edu 37 2 192797707 192797707 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:192797707delA ENST00000428980.2 + 0 499 AC098617.1_ENST00000424116.2_RNA ATCGGATGAGAAAGACTGGAA 0.423 2 4 --- --- --- --- AC019330.1 0 broad.mit.edu 37 2 199606440 199606441 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:199606440_199606441insT ENST00000440609.1 - 0 98 gtttgtttttgttttttttgtt 0.470 2 4 --- --- --- --- AC007879.7 0 broad.mit.edu 37 2 208110094 208110095 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:208110094_208110095insC ENST00000430494.1 + 0 457_458 AC007879.5_ENST00000412387.1_RNA|AC007879.5_ENST00000432413.2_RNA gagccacgcagccccccatctg 0.554 2 4 --- --- --- --- AC007879.5 0 broad.mit.edu 37 2 208225912 208225912 + RNA DEL T T - rs57667614 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:208225912delT ENST00000418850.1 - 0 400 AC007879.5_ENST00000412387.1_RNA gcctcctgggttcaagcaatt 0.478 5 2 --- --- --- --- AC006994.2 0 broad.mit.edu 37 2 211046140 211046141 + RNA INS - - TT rs11380091 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:211046140_211046141insTT ENST00000412065.1 + 0 312 gctatctgcagttttttttttt 0.535 4 3 --- --- --- --- LINC00607 646324 broad.mit.edu 37 2 216622257 216622257 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:216622257delA ENST00000445174.1 - 0 211 NR_037195.1 gctctgtctcaaaaaaaaaaa 0.403 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217622794 217622794 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:217622794delC ENST00000447289.1 + 0 388 TTTGAATCCACCTCATTTTCT 0.413 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217670915 217670915 + RNA DEL T T - rs75159337 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:217670915delT ENST00000447289.1 + 0 510 GTTTGAAttcttttttttttt 0.522 5 7 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217675323 217675325 + RNA DEL GAG GAG - rs61228041 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:217675323_217675325delGAG ENST00000447289.1 + 0 510 TCAGTGCCCTGAGGAGAATGCCC 0.645 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217788001 217788001 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:217788001delC ENST00000447289.1 + 0 510 AC007563.5_ENST00000607591.1_RNA TCCTAGGAGTCCGAATCAATT 0.358 2 4 --- --- --- --- AC097468.7 0 broad.mit.edu 37 2 219822977 219822978 + RNA DEL AC AC - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:219822977_219822978delAC ENST00000429343.1 - 0 45 ATCTGCAGTGACACACACACAC 0.525 3 6 --- --- --- --- AC114765.1 0 broad.mit.edu 37 2 220997397 220997397 + RNA DEL T T - rs67345438 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:220997397delT ENST00000432993.1 + 0 306 AC114765.2_ENST00000438633.1_lincRNA cttttctttcttttttttttt 0.413 2 4 --- --- --- --- AC067956.1 0 broad.mit.edu 37 2 221352524 221352525 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:221352524_221352525insC ENST00000414512.1 + 0 368 CAGTAATTGTTCCCCCCCAGAA 0.361 4 9 --- --- --- --- BOK-AS1 100379249 broad.mit.edu 37 2 242485496 242485499 + RNA DEL ACAT ACAT - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr2:242485496_242485499delACAT ENST00000434306.1 - 0 201 NR_033346.1 ccatatacacacatacataccaca 0.495 2 4 --- --- --- --- LINC01266 101927215 broad.mit.edu 37 3 655755 655755 + RNA DEL C C - rs33945791 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:655755delC ENST00000420823.1 + 0 176 GTCTCCCTTACCCCCCCCTAc 0.423 3 3 --- --- --- --- LINC01266 101927215 broad.mit.edu 37 3 702675 702676 + RNA DEL CA CA - rs28474741 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:702675_702676delCA ENST00000420823.1 + 0 176 AATGATAACTcacacacacaca 0.361 2 4 --- --- --- --- AC133680.1 0 broad.mit.edu 37 3 24931167 24931168 + RNA DEL GT GT - rs141602565 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:24931167_24931168delGT ENST00000455576.1 + 0 345 ACCTCTTAAAgtgtgtgtgtgt 0.347 3 3 --- --- --- --- AC018359.1 0 broad.mit.edu 37 3 34527562 34527563 + RNA DEL AC AC - rs112696126 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:34527562_34527563delAC ENST00000424786.1 + 0 570 tatcactcatacacacacacac 0.366 6 4 --- --- --- --- AC136289.1 0 broad.mit.edu 37 3 63778181 63778181 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:63778181delC ENST00000443346.1 - 0 622 CAAACCTTTTCCCCCCTTTCT 0.358 2 4 --- --- --- --- SUCLG2-AS1 101927111 broad.mit.edu 37 3 67706258 67706258 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:67706258delT ENST00000482677.1 + 0 345 atgccccaccttcgagggctg 0.537 2 4 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84843856 84843856 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:84843856delG ENST00000484892.1 - 0 1294 NR_033860.1 cacacagcctgggtgacagaa 0.393 2 4 --- --- --- --- PVRL3-AS1 100506555 broad.mit.edu 37 3 110661457 110661457 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:110661457delC ENST00000476301.1 - 0 502 PVRL3-AS1_ENST00000474769.1_RNA TCTTAGTTATCCAAGGTGGCA 0.343 2 4 --- --- --- --- RP11-553L6.2 0 broad.mit.edu 37 3 113945294 113945295 + RNA INS - - G rs138200142 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:113945294_113945295insG ENST00000493033.1 + 0 160 RP11-553L6.2_ENST00000481773.1_RNA gtggcaggtgcggggggcagtg 0.465 2 4 --- --- --- --- ALG1L2 644974 broad.mit.edu 37 3 129802996 129802997 + RNA INS - - G rs111407671 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:129802996_129802997insG ENST00000507643.1 + 0 76 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups ATGCTGGGGAAGCAGACATTGA 0.574 3 5 --- --- --- --- RP11-501O2.3 0 broad.mit.edu 37 3 147888935 147888936 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:147888935_147888936insT ENST00000477153.1 + 0 166 aatttctgctgtttttctttct 0.262 2 4 --- --- --- --- RP11-501O2.4 0 broad.mit.edu 37 3 147972032 147972032 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:147972032delA ENST00000460324.1 - 0 317 tcctaacctcaagtgatcggc 0.498 4 7 --- --- --- --- RP11-501O2.5 0 broad.mit.edu 37 3 148050878 148050878 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:148050878delT ENST00000481334.1 + 0 106 gaagcatagatttttgccctc 0.328 2 4 --- --- --- --- RP11-206M11.7 0 broad.mit.edu 37 3 149031138 149031139 + RNA DEL CA CA - rs113434799 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:149031138_149031139delCA ENST00000489011.1 + 0 401 ttacaatagccacacacacaca 0.337 2 4 --- --- --- --- RP11-23D24.2 0 broad.mit.edu 37 3 153377974 153377975 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:153377974_153377975insG ENST00000493214.2 - 0 160 TGTCTCCCAATGGGGGAAGACA 0.381 2 4 --- --- --- --- EHHADH-AS1 339926 broad.mit.edu 37 3 184901402 184901402 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr3:184901402delT ENST00000417720.1 + 0 1147 NR_038990.1 TTGCTAAGCAtttttttttat 0.413 2 4 --- --- --- --- LINC01182 101929071 broad.mit.edu 37 4 13749089 13749090 + RNA INS - - T rs80205543 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:13749089_13749090insT ENST00000510907.1 + 0 281 AACATAGTGTGTTTTTTTTTCA 0.312 3 4 --- --- --- --- LINC01182 101929071 broad.mit.edu 37 4 13848440 13848441 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:13848440_13848441insA ENST00000510907.1 + 0 349 ctttcgtctttaaaaatcttta 0.411 2 4 --- --- --- --- LOC101929095 101929095 broad.mit.edu 37 4 15206262 15206262 + RNA DEL A A - rs144289803 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:15206262delA ENST00000502344.1 - 0 154 RP11-665G4.1_ENST00000513384.1_RNA GTTCTATGGGAAAAAAAAAAT 0.393 3 6 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19876393 19876394 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:19876393_19876394insT ENST00000511431.1 + 0 408 TGTGTAATTACTTTTAATAGTC 0.396 2 4 --- --- --- --- ERVH-1 100616446 broad.mit.edu 37 4 23729622 23729623 + RNA DEL AA AA - rs111499437 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:23729622_23729623delAA ENST00000507666.1 - 0 90 RP11-380P13.1_ENST00000514290.1_RNA agactccattaaaaaaaaaaaa 0.416 4 3 --- --- --- --- RP11-123O22.1 0 broad.mit.edu 37 4 28536578 28536580 + RNA DEL AAA AAA - rs34971122 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:28536578_28536580delAAA ENST00000509416.1 + 0 402 accttgtctcaaaaaaaaaaaaa 0.453 3 4 --- --- --- --- LOC102723778 102723778 broad.mit.edu 37 4 31196994 31196994 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:31196994delT ENST00000515292.1 + 0 274 AGATTTGGAGTTTTTTTTTAT 0.338 2 4 --- --- --- --- LOC101928622 101928622 broad.mit.edu 37 4 33957396 33957397 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:33957396_33957397insG ENST00000505018.1 - 0 307 RP11-79E3.2_ENST00000506650.1_lincRNA gttcaggaactggggggcaatc 0.530 2 4 --- --- --- --- RP11-103J17.1 0 broad.mit.edu 37 4 37107266 37107267 + RNA INS - - AA rs151315421 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:37107266_37107267insAA ENST00000508199.1 + 0 56 taaagtgtaataaaaaaaaaGT 0.381 3 3 --- --- --- --- LINC01258 101928776 broad.mit.edu 37 4 38454866 38454866 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:38454866delA ENST00000512517.1 - 0 860 cagtTGTtacaaatccagcca 0.358 2 4 --- --- --- --- KLF3-AS1 79667 broad.mit.edu 37 4 38617639 38617642 + RNA DEL GAGA GAGA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:38617639_38617642delGAGA ENST00000440181.1 - 0 1725 NR_026804.1 gtgtgtgCATgagagagagaggag 0.544 4 6 --- --- --- --- RP11-231C18.1 0 broad.mit.edu 37 4 55199135 55199136 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:55199135_55199136insG ENST00000511634.1 + 0 43 ATTGAGGGTTTGGGGGGTTTCA 0.475 3 3 --- --- --- --- RP11-273B19.1 0 broad.mit.edu 37 4 55724718 55724718 + RNA DEL G G - rs56308023 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:55724718delG ENST00000514413.1 + 0 45 agaatcctgaGTGACATTGTT 0.368 4 3 --- --- --- --- UBA6-AS1 550112 broad.mit.edu 37 4 68635399 68635399 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:68635399delG ENST00000500538.2 + 0 1905 RP11-453E17.1_ENST00000502758.1_RNA gcaaatacttgtttgcatgtc 0.368 2 4 --- --- --- --- LINC01088 100505875 broad.mit.edu 37 4 79936738 79936739 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:79936738_79936739insA ENST00000509088.1 + 0 182 RP11-438E5.1_ENST00000510667.1_RNA NR_038342.1 ATAAACACTGGAAAAAAATTGT 0.480 2 4 --- --- --- --- RASGEF1B 153020 broad.mit.edu 37 4 82583262 82583263 + RNA DEL AA AA - rs140394368 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:82583262_82583263delAA ENST00000510780.1 - 0 390 CCAGATAATTAAAGACTATCTA 0.376 6 4 --- --- --- --- RASGEF1B 153020 broad.mit.edu 37 4 82604543 82604544 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:82604543_82604544insT ENST00000510780.1 - 0 390 gttgttgttTGttttttttgag 0.391 2 4 --- --- --- --- RP11-10L7.1 0 broad.mit.edu 37 4 89236380 89236381 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:89236380_89236381insT ENST00000500009.2 + 0 196 CACAGCATTTATTTTTGAGAAA 0.267 2 4 --- --- --- --- LOC100507053 100507053 broad.mit.edu 37 4 100168974 100168975 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:100168974_100168975insC ENST00000500358.2 + 0 3789 RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA NR_037884.1 cagttgcccctccccccagctg 0.545 2 4 --- --- --- --- LOC101929468 101929468 broad.mit.edu 37 4 105538436 105538437 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:105538436_105538437insT ENST00000500179.1 + 0 96 gtgaatctttcttttttttttt 0.322 3 2 --- --- --- --- RP11-556I14.1 0 broad.mit.edu 37 4 106008615 106008616 + RNA DEL CA CA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:106008615_106008616delCA ENST00000506386.1 + 0 319 tgtgtgtgtgcatgtgtTTACA 0.332 3 5 --- --- --- --- LEF1-AS1 641518 broad.mit.edu 37 4 109098440 109098441 + RNA INS - - CTCACTGTAACCTCTGC rs79961408 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:109098440_109098441insCTCACTGTAACCTCTGC ENST00000507799.1 + 0 360 LEF1-AS1_ENST00000512129.1_RNA tgtgaactcggctcccaggttc 0.490 2 4 --- --- --- --- RP11-269F21.3 0 broad.mit.edu 37 4 112757209 112757209 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:112757209delG ENST00000511219.1 - 0 134 RP11-269F21.1_ENST00000506068.1_lincRNA tagccagcgtggtggtgctgg 0.512 2 4 --- --- --- --- RP11-659O3.1 0 broad.mit.edu 37 4 117124740 117124741 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:117124740_117124741insA ENST00000509983.1 - 0 199 ACATTTTAAGCAAAAAGAGGAA 0.297 2 4 --- --- --- --- IL21-AS1 100996941 broad.mit.edu 37 4 123579492 123579492 + RNA DEL A A - rs77336710 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:123579492delA ENST00000417927.1 + 0 3128 tcccctcaccaaaaaaaaaag 0.493 2 4 --- --- --- --- LOC101927087 101927087 broad.mit.edu 37 4 125445385 125445386 + RNA INS - - TCT rs33931826 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:125445385_125445386insTCT ENST00000563724.1 - 0 263 ctctctctctcttttttttttc 0.490 2 4 --- --- --- --- RP11-125O18.1 0 broad.mit.edu 37 4 128270385 128270386 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:128270385_128270386insA ENST00000504050.1 - 0 368 cacagaactagaaaaaaatcta 0.356 2 4 --- --- --- --- RP11-422J15.1 0 broad.mit.edu 37 4 130740008 130740009 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:130740008_130740009insT ENST00000513875.1 + 0 663 aaattggctccttttttctcaa 0.347 2 4 --- --- --- --- RP11-745L13.2 0 broad.mit.edu 37 4 132862788 132862789 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:132862788_132862789insT ENST00000510592.1 - 0 30 gatttttaacatttttttgtgg 0.480 2 4 --- --- --- --- RP11-404I7.2 0 broad.mit.edu 37 4 133899602 133899602 + RNA DEL T T - rs77379669 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:133899602delT ENST00000509628.1 - 0 32 gtcatttgtattttttttgct 0.269 2 4 --- --- --- --- RP11-775H9.2 0 broad.mit.edu 37 4 137194675 137194675 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:137194675delC ENST00000513332.1 - 0 237 TGTTAATGCTCCACCATCCCT 0.378 2 4 --- --- --- --- LINC01095 100505545 broad.mit.edu 37 4 147037907 147037908 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:147037907_147037908insG ENST00000507726.1 - 0 168 tcaggagagctggggcctgccc 0.470 2 4 --- --- --- --- LINC01095 100505545 broad.mit.edu 37 4 147039942 147039943 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:147039942_147039943insG ENST00000507726.1 - 0 168 AGATCTTGGGAGGGGGGCAGTG 0.381 2 4 --- --- --- --- RP11-526A4.1 0 broad.mit.edu 37 4 150410920 150410921 + RNA DEL TG TG - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:150410920_150410921delTG ENST00000511993.1 - 0 1878 Aatacatatatgtgtgtgtgta 0.307 2 4 --- --- --- --- RP11-526A4.1 0 broad.mit.edu 37 4 150591893 150591894 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:150591893_150591894insT ENST00000511993.1 - 0 997 RP11-707F2.1_ENST00000505781.1_lincRNA taatgttgtggtttttgtctta 0.366 2 4 --- --- --- --- RP11-18H21.2 0 broad.mit.edu 37 4 153075805 153075806 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:153075805_153075806insA ENST00000504799.1 - 0 86 p.?(1) TTGAATATAGCAAAAAAACAGG 0.431 3 4 --- --- --- --- RP11-502M1.2 0 broad.mit.edu 37 4 161465168 161465169 + RNA DEL TT TT - rs144865879 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:161465168_161465169delTT ENST00000512652.1 + 0 645 catgagtgtcttgccccatgca 0.530 4 2 --- --- --- --- HAND2-AS1 79804 broad.mit.edu 37 4 174485405 174485405 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:174485405delC ENST00000512099.1 + 0 1467 HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000510268.1_RNA GCTGTGACATCCCTTGTGCCC 0.507 2 4 --- --- --- --- RP11-765K14.1 0 broad.mit.edu 37 4 177797552 177797552 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:177797552delC ENST00000508790.1 + 0 152 atgttggaggcagatcctgca 0.333 2 4 --- --- --- --- LOC90768 90768 broad.mit.edu 37 4 182885744 182885745 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:182885744_182885745insA ENST00000509012.1 - 0 378 AATGTTGCTAGAAAAAAAAAAA 0.406 2 4 --- --- --- --- RP11-242J7.1 0 broad.mit.edu 37 4 185526146 185526147 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:185526146_185526147insA ENST00000522554.1 - 0 292 gatagagacacaaaaaaccctt 0.426 2 4 --- --- --- --- RP11-217E13.1 0 broad.mit.edu 37 4 187922220 187922220 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:187922220delT ENST00000503037.1 - 0 48 GTTCCAGACATTTTAAAGGGA 0.338 2 4 --- --- --- --- LOC100506272 100506272 broad.mit.edu 37 4 188471694 188471695 + RNA INS - - GTTCA rs72490299 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:188471694_188471695insGTTCA ENST00000515660.1 - 0 258 tggtgatctgggttctttgatg 0.455 2 4 --- --- --- --- LOC100506272 100506272 broad.mit.edu 37 4 188473307 188473308 + RNA DEL TT TT - rs71595156 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:188473307_188473308delTT ENST00000515660.1 - 0 258 ttctgtaaactttttttttttt 0.361 4 3 --- --- --- --- LOC100506272 100506272 broad.mit.edu 37 4 188566108 188566108 + RNA DEL A A - rs34349211 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:188566108delA ENST00000505488.1 + 0 334 aagaaaacagaaaaaaaaaaa 0.343 3 6 --- --- --- --- LINC01060 401164 broad.mit.edu 37 4 189409741 189409741 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:189409741delG ENST00000510832.1 + 0 617 ttgttacaatggactattgca 0.358 2 4 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190808636 190808637 + RNA INS - - C rs35174045 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr4:190808636_190808637insC ENST00000511785.1 - 0 231 gaagcaaggcactttttcacaa 0.436 2 4 --- --- --- --- LINC01019 285577 broad.mit.edu 37 5 3512344 3512345 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:3512344_3512345insG ENST00000505443.1 - 0 459 NR_033898.1 AAAACGGATGTGGGGGGGAGAG 0.416 OREG0002786 type=REGULATORY REGION|Gene=CEI-IRX1|Dataset=Vista Enhancers|EvidenceSubtype=In-vivo LacZ Expression Assay 2 4 --- --- --- --- RP11-445O3.2 0 broad.mit.edu 37 5 4615019 4615019 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:4615019delG ENST00000507435.1 - 0 429 attacacttagggcacacctc 0.403 2 4 --- --- --- --- RP11-122F24.1 0 broad.mit.edu 37 5 6982893 6982894 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:6982893_6982894insT ENST00000512838.1 + 0 69 TTTTGTCTGAATTTTTTTTATA 0.292 2 4 --- --- --- --- RP11-122F24.1 0 broad.mit.edu 37 5 7080169 7080170 + RNA DEL TG TG - rs68129911 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:7080169_7080170delTG ENST00000512838.1 + 0 154 TCAGAGGCTTtgtgtgtgtgtg 0.416 2 4 --- --- --- --- RP11-122F24.1 0 broad.mit.edu 37 5 7081225 7081225 + RNA DEL T T - rs11354489 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:7081225delT ENST00000512838.1 + 0 154 ATTGTTCTCATTTTTTTTTTT 0.363 3 3 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9756163 9756163 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:9756163delC ENST00000511616.1 - 0 744 NR_027112.2 ttctacccagccccaatttaa 0.438 2 4 --- --- --- --- RP11-549K20.1 0 broad.mit.edu 37 5 25137661 25137662 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:25137661_25137662insG ENST00000507600.1 - 0 280 cccagttacgcggggggctgag 0.525 2 4 --- --- --- --- RP11-184E9.1 0 broad.mit.edu 37 5 25297237 25297240 + RNA DEL CACT CACT - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:25297237_25297240delCACT ENST00000502100.2 + 0 352 RP11-192H6.2_ENST00000505040.2_lincRNA gtcgaaataacactcacaagttgc 0.284 2 4 --- --- --- --- RP11-152K4.2 0 broad.mit.edu 37 5 31104675 31104676 + RNA INS - - AG rs10680774 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:31104675_31104676insAG ENST00000523584.1 - 0 267 AACAAAAGAAAAGAGAGAGAGA 0.351 2 4 --- --- --- --- RP11-152K4.2 0 broad.mit.edu 37 5 31109337 31109338 + RNA INS - - T rs7733510 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:31109337_31109338insT ENST00000523584.1 - 0 267 tttgttttttgttttttttttt 0.337 2 4 --- --- --- --- RP11-152K4.2 0 broad.mit.edu 37 5 31116821 31116822 + RNA INS - - TG rs143060473 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:31116821_31116822insTG ENST00000523584.1 - 0 125 gtgtctgtgtttgtgtgtgtgt 0.307 3 4 --- --- --- --- CTD-2066L21.3 0 broad.mit.edu 37 5 33054406 33054407 + RNA DEL CT CT - rs144011982 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:33054406_33054407delCT ENST00000510327.1 - 0 346 aagatttccactctcagcactt 0.312 4 2 --- --- --- --- CTD-2066L21.3 0 broad.mit.edu 37 5 33112256 33112256 + RNA DEL T T - rs113842925 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:33112256delT ENST00000510327.1 - 0 346 agttttgtccttttttttttt 0.333 4 4 --- --- --- --- CTD-2203K17.1 0 broad.mit.edu 37 5 33425348 33425349 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:33425348_33425349insT ENST00000507251.1 - 0 415 tgatcttattcttttttgtgac 0.386 2 4 --- --- --- --- RP11-159F24.2 0 broad.mit.edu 37 5 43340427 43340427 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:43340427delA ENST00000511991.1 + 0 82 actctgtctcaaaaaaaaaaa 0.413 3 3 --- --- --- --- LOC100506674 100506674 broad.mit.edu 37 5 44802108 44802108 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:44802108delT ENST00000503179.1 - 0 118 RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA AGATCCTGAATTTGCATTTTC 0.274 2 4 --- --- --- --- CTD-2288O8.1 0 broad.mit.edu 37 5 52029199 52029204 + RNA DEL TGTGTG TGTGTG - rs3078961 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:52029199_52029204delTGTGTG ENST00000502995.1 - 0 167 ATTCCTGAATtgtgtgtgtgtgtgtg 0.359 3 2 --- --- --- --- CTD-2023N9.2 0 broad.mit.edu 37 5 56904394 56904397 + RNA DEL AAAC AAAC - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:56904394_56904397delAAAC ENST00000513392.1 + 0 244 aagactaagaaaacaaacaaacaa 0.392 3 3 --- --- --- --- CTD-2023N9.2 0 broad.mit.edu 37 5 56906926 56906926 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:56906926delA ENST00000513392.1 + 0 244 TCTGtctgccacatgaccatc 0.463 3 5 --- --- --- --- RP11-305P14.1 0 broad.mit.edu 37 5 65599100 65599101 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:65599100_65599101insA ENST00000510964.2 + 0 71 acattgatgagaaaaaaaattg 0.426 2 4 --- --- --- --- LOC101928858 101928858 broad.mit.edu 37 5 66766275 66766278 + RNA DEL TTAT TTAT - rs142022343 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:66766275_66766278delTTAT ENST00000508512.1 - 0 63 p.0?(1) aattggggtgttatttatttattt 0.289 4 3 --- --- --- --- LOC102477328 102477328 broad.mit.edu 37 5 71905796 71905797 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:71905796_71905797insA ENST00000512573.1 - 0 103 CACAAAAGGCTAAAAAGTCTTT 0.386 2 4 --- --- --- --- RP11-60A8.1 0 broad.mit.edu 37 5 72561353 72561354 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:72561353_72561354insG ENST00000513379.1 + 0 328 TGGGCAAGGGTGGGGGGGGAGC 0.455 2 4 --- --- --- --- RP11-168A11.1 0 broad.mit.edu 37 5 79253743 79253744 + RNA INS - - GAAT rs141272568 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:79253743_79253744insGAAT ENST00000503167.1 + 0 521 TAATATGTATCgaatgaatgaa 0.441 3 4 --- --- --- --- TMEM161B-AS1 100505894 broad.mit.edu 37 5 87608659 87608659 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:87608659delT ENST00000501715.2 + 0 577 TMEM161B-AS1_ENST00000501869.2_RNA|TMEM161B-AS1_ENST00000504922.1_RNA|TMEM161B-AS1_ENST00000510087.1_RNA cctggcgtggttttcaggtcc 0.388 2 4 --- --- --- --- TMEM161B-AS1 100505894 broad.mit.edu 37 5 87620487 87620487 + RNA DEL A A - rs71613079 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:87620487delA ENST00000501715.2 + 0 577 TMEM161B-AS1_ENST00000501869.2_RNA|TMEM161B-AS1_ENST00000504922.1_RNA|TMEM161B-AS1_ENST00000510087.1_RNA ctcaaaaaagaaaaaaaaaaT 0.448 8 1 --- --- --- --- RP11-348J24.2 0 broad.mit.edu 37 5 91552069 91552070 + RNA INS - - T rs138981893 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:91552069_91552070insT ENST00000502934.1 + 0 172 TTGAGGAAGACttttttttttt 0.450 4 5 --- --- --- --- NR2F1-AS1 441094 broad.mit.edu 37 5 92826552 92826553 + RNA DEL CA CA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:92826552_92826553delCA ENST00000607797.1 - 0 1229 NR2F1-AS1_ENST00000510254.1_RNA|NR2F1-AS1_ENST00000606739.1_RNA|NR2F1-AS1_ENST00000607831.1_RNA|NR2F1-AS1_ENST00000606233.1_RNA NR_015369.1 ggtggtggtgcagtggtggtgg 0.525 2 4 --- --- --- --- RP11-155G15.2 0 broad.mit.edu 37 5 96736455 96736456 + RNA DEL AG AG - rs80352041 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:96736455_96736456delAG ENST00000504578.1 + 0 71 ccacctaggcagatgttttatc 0.396 3 5 --- --- --- --- CTD-2001C12.1 0 broad.mit.edu 37 5 99863071 99863071 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:99863071delA ENST00000499025.1 - 0 99 GGGATGGGAGAAAAAAAAAAG 0.313 2 4 --- --- --- --- RP11-6N13.1 0 broad.mit.edu 37 5 104139823 104139824 + RNA INS - - A rs35832832 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:104139823_104139824insA ENST00000503650.1 - 0 328 gtaggagaaacaatgcagggct 0.342 5 2 --- --- --- --- RP11-6N13.1 0 broad.mit.edu 37 5 104191574 104191575 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:104191574_104191575insT ENST00000503650.1 - 0 328 aacatgggttgtttttttcatt 0.337 2 4 --- --- --- --- CTD-2374C24.1 0 broad.mit.edu 37 5 104350942 104350942 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:104350942delG ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA atatgaactagggcttagaag 0.358 2 4 --- --- --- --- CTD-2374C24.1 0 broad.mit.edu 37 5 104356575 104356576 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:104356575_104356576insT ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA TTTTGACTCTCttttttttttt 0.446 2 4 --- --- --- --- RP11-6N13.1 0 broad.mit.edu 37 5 104694260 104694260 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:104694260delA ENST00000503650.1 - 0 210 gaatattttcaagaataatga 0.294 2 4 --- --- --- --- CTC-575N7.1 0 broad.mit.edu 37 5 129151392 129151392 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:129151392delA ENST00000503616.1 - 0 121 CTC-575N7.1_ENST00000515569.1_RNA gcttatacgcaggaatgagca 0.408 2 4 --- --- --- --- CTC-575N7.1 0 broad.mit.edu 37 5 129160363 129160363 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:129160363delA ENST00000503616.1 - 0 121 CTC-575N7.1_ENST00000515569.1_RNA ctaccaacctaaaaaaaaagc 0.363 2 4 --- --- --- --- LOC101926941 101926941 broad.mit.edu 37 5 141742423 141742423 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:141742423delA ENST00000510311.1 + 0 506 AC005592.2_ENST00000514303.1_RNA gacaaacgggaaaacaggcac 0.512 2 4 --- --- --- --- CTC-806A22.1 0 broad.mit.edu 37 5 144747420 144747421 + RNA INS - - AC rs59153598 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:144747420_144747421insAC ENST00000504620.1 - 0 84 acctgcaacctacatcttgatt 0.337 3 3 --- --- --- --- LOC102546294 102546294 broad.mit.edu 37 5 147719709 147719709 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:147719709delT ENST00000501695.3 - 0 429 TAGATGTCTCTTGGGTTTAAG 0.393 2 4 --- --- --- --- MIR143HG 728264 broad.mit.edu 37 5 148795700 148795701 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:148795700_148795701insG ENST00000602964.1 + 0 200 ccaaaaaaaaaagaGTCTAGAC 0.520 3 5 --- --- --- --- LOC102546298 102546298 broad.mit.edu 37 5 149856998 149856999 + RNA DEL GT GT - rs138290510 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:149856998_149856999delGT ENST00000519040.1 - 0 139 GAAAAGTTCAgtgtgtgtgtgt 0.500 3 4 --- --- --- --- LOC101927115 101927115 broad.mit.edu 37 5 151505324 151505325 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:151505324_151505325insC ENST00000524295.1 + 0 199 agtgtccccagcccccggcaag 0.480 2 4 --- --- --- --- LOC101927766 101927766 broad.mit.edu 37 5 159251431 159251432 + RNA INS - - AAAA rs113362252 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:159251431_159251432insAAAA ENST00000522627.1 - 0 3691 aagaaagaaagagaaagaaagg 0.416 3 6 --- --- --- --- LOC102546299 102546299 broad.mit.edu 37 5 164045678 164045679 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:164045678_164045679insA ENST00000517508.1 + 0 716 CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000519750.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA GTACTCTTGTCAAAAACAATAC 0.277 2 4 --- --- --- --- CTC-535M15.2 0 broad.mit.edu 37 5 165095446 165095446 + RNA DEL T T - rs79406898 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:165095446delT ENST00000522189.1 + 0 21 GGAAGGGGAATTTTTTTTTTT 0.433 3 4 --- --- --- --- LINC01187 100507267 broad.mit.edu 37 5 169622799 169622799 + RNA DEL C C - rs72190042 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:169622799delC ENST00000506431.2 - 0 1538 TTACTTCACACCCCCCCCCTT 0.403 6 2 --- --- --- --- LINC01484 101928136 broad.mit.edu 37 5 173146288 173146289 + RNA DEL GT GT - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:173146288_173146289delGT ENST00000521128.1 - 0 406_407 GGGTGTCCAGgtgtgtgtgtgt 0.441 2 4 --- --- --- --- FLJ16171 441116 broad.mit.edu 37 5 174357094 174357097 + RNA DEL CTTT CTTT - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:174357094_174357097delCTTT ENST00000377300.3 - 0 1281 NR_046113.1 tcttttcttcctttctttcttttc 0.363 4 6 --- --- --- --- THOC3 84321 broad.mit.edu 37 5 175348042 175348044 + RNA DEL ATG ATG - rs139572932 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr5:175348042_175348044delATG ENST00000502813.1 - 0 87 agtgaggataatgagattgacct 0.438 6 2 --- --- --- --- LY86-AS1 285780 broad.mit.edu 37 6 6404947 6404949 + RNA DEL TTT TTT - rs67177622 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:6404947_6404949delTTT ENST00000435641.1 - 0 639 LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA tttttttttcttttttttttttt 0.394 2 4 --- --- --- --- LY86-AS1 285780 broad.mit.edu 37 6 6552357 6552358 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:6552357_6552358insT ENST00000435641.1 - 0 482 LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA TGCTTATAGTGTGTCATTTTAG 0.356 3 3 --- --- --- --- RP1-167F1.2 0 broad.mit.edu 37 6 19598524 19598524 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:19598524delT ENST00000432171.2 - 0 366 ggTATGCATCtttttttttga 0.532 2 4 --- --- --- --- RP1-209A6.1 0 broad.mit.edu 37 6 22833895 22833896 + RNA INS - - CTG rs140660674 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:22833895_22833896insCTG ENST00000420572.2 - 0 197 atgtggacagcccccgagggaa 0.490 4 4 --- --- --- --- LOC101927136 101927136 broad.mit.edu 37 6 53440564 53440564 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:53440564delT ENST00000502390.1 - 0 122 GACATAGGACtttttttttta 0.443 3 4 --- --- --- --- RP11-154D6.1 0 broad.mit.edu 37 6 72022969 72022969 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:72022969delT ENST00000589255.1 - 0 585 RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000434683.1_RNA|RP11-154D6.1_ENST00000587015.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000585945.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000590780.1_RNA|RP11-154D6.1_ENST00000590213.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA AAGGTATGGCTTTTCCCCTTA 0.368 2 4 --- --- --- --- LOC101928516 101928516 broad.mit.edu 37 6 74852695 74852695 + RNA DEL T T - rs72125620 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:74852695delT ENST00000435946.1 + 0 138 GTGGGGTATCttttttttttt 0.468 4 6 --- --- --- --- RP11-436D23.1 0 broad.mit.edu 37 6 98594973 98594973 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:98594973delA ENST00000607823.1 + 0 352 ccagacatagaaaaaaatgca 0.338 2 4 --- --- --- --- RP11-436D23.1 0 broad.mit.edu 37 6 98686887 98686888 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:98686887_98686888insT ENST00000607823.1 + 0 352 GCAATAGATAATTTTTTTTTCT 0.312 3 5 --- --- --- --- LINC00222 387111 broad.mit.edu 37 6 109078041 109078042 + RNA DEL TT TT - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:109078041_109078042delTT ENST00000416104.1 + 0 196 TTAAAGCTGAtttttttttttt 0.480 2 4 --- --- --- --- RP1-97J1.2 0 broad.mit.edu 37 6 112222104 112222104 + RNA DEL C C - rs113220458 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:112222104delC ENST00000449069.1 + 0 413 TGTGTAATCACCCCCCCAGGC 0.493 5 3 --- --- --- --- RP1-105O18.1 0 broad.mit.edu 37 6 112799806 112799807 + RNA DEL TG TG - rs59372341 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:112799806_112799807delTG ENST00000446322.1 - 0 109 ATTAAAGCTAtgtgtgtgtgtg 0.386 4 9 --- --- --- --- RP11-437J19.1 0 broad.mit.edu 37 6 113683717 113683717 + RNA DEL C C - rs34468683 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:113683717delC ENST00000445974.1 - 0 211 CAACCTAAGACCTTTATCTGT 0.423 3 3 --- --- --- --- TARID 100507308 broad.mit.edu 37 6 133889645 133889646 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:133889645_133889646insA ENST00000607033.1 - 0 623 RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000606292.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA AAAAACAACAGTAACACGAACC 0.480 3 5 --- --- --- --- LINC00271 100131814 broad.mit.edu 37 6 135838798 135838799 + RNA INS - - A rs61424995 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:135838798_135838799insA ENST00000421378.2 + 0 147 NR_026805.1 tctgcacagccaaaaaaaaaaa 0.327 3 3 --- --- --- --- RP13-143G15.4 0 broad.mit.edu 37 6 136544934 136544934 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:136544934delA ENST00000417643.1 - 0 58 aatctctactaaaaatacaaa 0.527 2 4 --- --- --- --- STXBP5-AS1 729178 broad.mit.edu 37 6 147405647 147405647 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:147405647delT ENST00000367477.3 - 0 523 STXBP5-AS1_ENST00000447072.1_RNA|STXBP5-AS1_ENST00000458125.1_RNA|STXBP5-AS1_ENST00000431143.1_RNA|STXBP5-AS1_ENST00000427394.1_RNA CAGAtttatcttttttttttt 0.378 2 4 --- --- --- --- LOC102724087 102724087 broad.mit.edu 37 6 161377852 161377862 + RNA DEL ATGCTGGTAAG ATGCTGGTAAG - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr6:161377852_161377862delATGCTGGTAAG ENST00000417479.1 + 0 423 cctcacaggcatgctggtaagatgctggtag 0.441 2 4 --- --- --- --- AC007091.1 0 broad.mit.edu 37 7 19491730 19491730 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:19491730delT ENST00000412563.1 + 0 356 tagggtgtcctttttctgctt 0.398 2 4 --- --- --- --- AC007255.8 0 broad.mit.edu 37 7 29586607 29586607 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:29586607delA ENST00000447171.1 - 0 340 aactgaaaggaaaaaaaaaga 0.328 2 4 --- --- --- --- AC073115.7 0 broad.mit.edu 37 7 46033583 46033584 + RNA DEL TT TT - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:46033583_46033584delTT ENST00000436056.1 + 0 173 aaatctgctgtttttttttttt 0.356 2 4 --- --- --- --- AC092657.2 0 broad.mit.edu 37 7 46341791 46341798 + RNA DEL TTTTTTTT TTTTTTTT - rs72405917 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:46341791_46341798delTTTTTTTT ENST00000436266.1 + 0 49 actcagttaatttttttttttttttttt 0.466 5 1 --- --- --- --- AC004901.1 0 broad.mit.edu 37 7 46934464 46934465 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:46934464_46934465insC ENST00000433337.1 - 0 301 ttcagcccaggccccctccctc 0.431 2 4 --- --- --- --- AC004901.1 0 broad.mit.edu 37 7 47087596 47087596 + RNA DEL T T - rs11359013 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:47087596delT ENST00000433337.1 - 0 237 AC004870.3_ENST00000412996.1_RNA TCTCTCTCTCttttttttttt 0.488 3 3 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242465 55242479 + In_Frame_Del DEL GGAATTAAGAGAAGC GGAATTAAGAGAAGC - rs121913438 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:55242465_55242479delGGAATTAAGAGAAGC ENST00000275493.2 + 19 2412_2426 c.2235_2249delGGAATTAAGAGAAGC c.(2233-2250)aaa>aa p.KELREA745del EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 745 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG 0.479 E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 15 53 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65891818 65891819 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:65891818_65891819insA ENST00000442578.1 - 0 826 AAGCTTGCAAGAAAAAAAACAC 0.426 4 5 --- --- --- --- GS1-124K5.11 0 broad.mit.edu 37 7 65997351 65997352 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:65997351_65997352insT ENST00000449307.2 - 0 1308 GGGGTCGGGCAttttttttttt 0.480 4 5 --- --- --- --- STEAP2-AS1 100874100 broad.mit.edu 37 7 89670281 89670282 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:89670281_89670282insG ENST00000478318.2 - 0 424 tggacaaatttggggggagtca 0.391 2 4 --- --- --- --- STEAP2-AS1 100874100 broad.mit.edu 37 7 89752882 89752891 + RNA DEL TTTTGTTTTG TTTTGTTTTG - rs5000032 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:89752882_89752891delTTTTGTTTTG ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA caattaaggtttttgttttgttttgttttg 0.362 4 5 --- --- --- --- MTERF1 7978 broad.mit.edu 37 7 91459189 91459190 + RNA INS - - T rs149723019 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:91459189_91459190insT ENST00000454222.1 - 0 93 CATTTTAATGAttttttttttt 0.386 3 3 --- --- --- --- GPC2 221914 broad.mit.edu 37 7 99769524 99769525 + Frame_Shift_Ins INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:99769524_99769525insG ENST00000292377.2 - 7 1214_1215 c.1047_1048insC c.(1045-1050)ccacccfs p.P350fs GPC2_ENST00000471050.1_5'UTR NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 350 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCACCGGGTCGGGGGGGCCGC 0.723 3 5 --- --- --- --- COL26A1 136227 broad.mit.edu 37 7 101119087 101119090 + RNA DEL TTCT TTCT - rs112879603 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:101119087_101119090delTTCT ENST00000313669.7 + 0 577 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 ccttccttccttctttctttcttt 0.373 5 2 --- --- --- --- RP11-325F22.5 0 broad.mit.edu 37 7 104566648 104566649 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:104566648_104566649insA ENST00000453666.1 - 0 178 cctgtctctacaaaaaaaaata 0.520 2 4 --- --- --- --- LOC101928012 101928012 broad.mit.edu 37 7 112292621 112292621 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:112292621delA ENST00000453459.1 + 0 580 cagtaggtgcaaaaaaagcat 0.299 2 4 --- --- --- --- LINC01510 100996266 broad.mit.edu 37 7 116241827 116241828 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:116241827_116241828insA ENST00000458082.1 - 0 222 CCTGTAGTAGCAATGACTGATT 0.347 2 4 --- --- --- --- RP5-921G16.1 0 broad.mit.edu 37 7 123894089 123894089 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:123894089delT ENST00000484322.1 + 0 168 TGGAAACGGGTTAAGAGGAAG 0.393 2 4 --- --- --- --- KCP 375616 broad.mit.edu 37 7 128548254 128548255 + RNA INS - - A rs11449361 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:128548254_128548255insA ENST00000476647.2 - 0 263 Q6ZWJ8 KCP_HUMAN kielin/chordin-like protein extracellular region central_nervous_system(1)|endometrium(3) 4 ggaaaagaaagaaaaaaaaaga 0.351 2 4 --- --- --- --- AC024084.1 0 broad.mit.edu 37 7 135749134 135749135 + RNA DEL TC TC - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:135749134_135749135delTC ENST00000440744.2 + 0 174 tctgtatctgtctctctctctc 0.450 2 4 --- --- --- --- AC009784.3 0 broad.mit.edu 37 7 135778848 135778849 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:135778848_135778849insA ENST00000445293.2 + 0 112 AGAGTGAGAACAAAAAAAAAAT 0.347 2 4 --- --- --- --- LOC349160 349160 broad.mit.edu 37 7 136435658 136435659 + RNA INS - - TG rs61068929 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:136435658_136435659insTG ENST00000586239.1 - 0 466 AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA gtgtgtgtgtctgtgtgtgtgt 0.342 2 4 --- --- --- --- LOC349160 349160 broad.mit.edu 37 7 136456663 136456664 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:136456663_136456664insT ENST00000586239.1 - 0 466 AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA acttttttttctttttttttgg 0.411 3 4 --- --- --- --- LOC101928733 101928733 broad.mit.edu 37 7 149095931 149095932 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:149095931_149095932insC ENST00000417506.1 + 0 504_505 AGCACTCCCTGCCCCTCCTCTA 0.505 2 4 --- --- --- --- AC008060.8 0 broad.mit.edu 37 7 155232183 155232183 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr7:155232183delC ENST00000419225.1 - 0 266 CTGTGGGAATCCAGGGGACCC 0.677 2 4 --- --- --- --- GS1-57L11.1 0 broad.mit.edu 37 8 2648686 2648687 + RNA DEL TG TG - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:2648686_2648687delTG ENST00000520024.1 + 0 176 tgtgtgtgtctgtgtgtgtgtg 0.396 4 3 --- --- --- --- PRSS51 346702 broad.mit.edu 37 8 10344132 10344133 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:10344132_10344133insA ENST00000523024.1 - 0 609 PRSS51_ENST00000521149.1_RNA ccatctggtggaaaactgatca 0.470 2 4 --- --- --- --- RP11-459E5.1 0 broad.mit.edu 37 8 22557127 22557130 + RNA DEL AAGA AAGA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:22557127_22557130delAAGA ENST00000523627.1 + 0 164 gaaaggaaggaagaaagaaagaaa 0.392 4 5 --- --- --- --- RP1-84O15.2 0 broad.mit.edu 37 8 34190836 34190836 + RNA DEL T T - rs75348517 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:34190836delT ENST00000522460.1 + 0 282 CCATTTGTAAttttttttttt 0.443 2 4 --- --- --- --- LOC101929268 101929268 broad.mit.edu 37 8 49539077 49539078 + RNA INS - - GT rs140695383 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:49539077_49539078insGT ENST00000522575.1 + 0 356 tgtaagtgcgagtgtgtgtgtg 0.520 6 13 --- --- --- --- RP11-10H3.1 0 broad.mit.edu 37 8 50103552 50103591 + RNA DEL TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT - rs71227657 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:50103552_50103591delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT ENST00000518222.1 + 0 271 tctttatgtcttctttctttctttctttctttctttctttctttctttctttctttcttt 0.333 3 4 --- --- --- --- RP11-400K9.4 0 broad.mit.edu 37 8 54432989 54432989 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:54432989delT ENST00000426023.1 - 0 603 atagctatgcttttttttttt 0.378 2 4 --- --- --- --- LOC101929488 101929488 broad.mit.edu 37 8 58261924 58261925 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:58261924_58261925insG ENST00000519714.1 + 0 1181 AAATAGCTGTTGGGGGGTCTTA 0.535 3 4 --- --- --- --- CTD-3046C4.1 0 broad.mit.edu 37 8 64318510 64318511 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:64318510_64318511insT ENST00000521221.1 - 0 694 TGTCATTGGACTTTTTTTTTTT 0.356 2 4 --- --- --- --- LOC102724623 102724623 broad.mit.edu 37 8 65039161 65039162 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:65039161_65039162insT ENST00000524360.1 - 0 195 RP11-32K4.1_ENST00000521958.1_RNA|RP11-32K4.1_ENST00000523191.1_RNA taggaaagctgttttttttggc 0.490 2 4 --- --- --- --- RP11-653B10.1 0 broad.mit.edu 37 8 83572855 83572855 + RNA DEL T T - rs148132994 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:83572855delT ENST00000522776.1 - 0 36 tgccagcaccttttttttttt 0.378 8 2 --- --- --- --- LOC101927141 101927141 broad.mit.edu 37 8 83860422 83860422 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:83860422delA ENST00000522123.1 - 0 57 CTD-2272D18.1_ENST00000524359.1_lincRNA accccatctcaaaaaaaaaaa 0.393 4 3 --- --- --- --- RP11-120I21.2 0 broad.mit.edu 37 8 84962543 84962543 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:84962543delT ENST00000523678.1 + 0 184 ttgttggacatttggcgtggg 0.388 4 3 --- --- --- --- AF121898.3 0 broad.mit.edu 37 8 88649784 88649785 + RNA DEL GA GA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:88649784_88649785delGA ENST00000517711.1 - 0 182 AF121898.3_ENST00000518494.1_RNA|AF121898.3_ENST00000440763.2_RNA acaatgtcctgagaatTACCTA 0.396 2 4 --- --- --- --- RP11-122C21.1 0 broad.mit.edu 37 8 92588743 92588744 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:92588743_92588744insT ENST00000518416.1 - 0 415 TGGGAAGCATGTTTTTCAACAA 0.297 2 4 --- --- --- --- RP11-122C21.1 0 broad.mit.edu 37 8 92822333 92822334 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:92822333_92822334insA ENST00000518416.1 - 0 285 AACAATGAGACAAAAACAGTTC 0.421 2 4 --- --- --- --- LINC00535 642924 broad.mit.edu 37 8 94234530 94234530 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:94234530delT ENST00000520096.1 - 0 579 LINC00535_ENST00000520513.1_RNA|RP11-388K12.1_ENST00000517796.1_lincRNA|LINC00535_ENST00000517785.1_RNA ttaggcattcttagtcaaaag 0.438 2 4 --- --- --- --- LINC00535 642924 broad.mit.edu 37 8 94278205 94278206 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:94278205_94278206insT ENST00000520096.1 - 0 579 RP11-388K12.2_ENST00000522598.1_lincRNA|LINC00535_ENST00000520513.1_RNA tggcttatatattttttttatt 0.500 2 4 --- --- --- --- LINC00535 642924 broad.mit.edu 37 8 94503238 94503239 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:94503238_94503239insT ENST00000501400.1 - 0 1133 NR_033858.1 ctcactggccatTTTTTTGTTG 0.292 2 4 --- --- --- --- LINC00535 642924 broad.mit.edu 37 8 94661850 94661851 + RNA INS - - AT TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:94661850_94661851insAT ENST00000501400.1 - 0 948 NR_033858.1 GAGATTCCATAtttttgccctg 0.485 2 4 --- --- --- --- LOC101927221 101927221 broad.mit.edu 37 8 103262323 103262324 + RNA INS - - T rs71268552 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:103262323_103262324insT ENST00000499653.1 + 0 513 KB-431C1.4_ENST00000520820.1_RNA GCCAATGTGACttttttttttt 0.436 3 4 --- --- --- --- LOC101927487 101927487 broad.mit.edu 37 8 112221484 112221484 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:112221484delG ENST00000522778.1 - 0 122 GTATAATAGTGGTAGGCATGA 0.378 2 4 --- --- --- --- LINC00536 100859921 broad.mit.edu 37 8 116997863 116997863 + RNA DEL A A - rs34081572 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:116997863delA ENST00000505156.2 - 0 1558 NR_046215.1 GTTTTTTGTTAAAAAAAAAAA 0.289 5 1 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130424298 130424299 + RNA INS - - TGTGTGTG rs150942472 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:130424298_130424299insTGTGTGTG ENST00000446592.3 - 0 360 ATCATACTTTCtgtgtgtgtgt 0.455 2 4 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130446303 130446303 + RNA DEL C C - rs67761204 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:130446303delC ENST00000446592.3 - 0 360 RP11-26E5.1_ENST00000519048.1_lincRNA cacacacacacaAAAAaaaaa 0.318 3 4 --- --- --- --- RP11-419K12.1 0 broad.mit.edu 37 8 130694768 130694773 + RNA DEL TGAGAC TGAGAC - rs34920939 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:130694768_130694773delTGAGAC ENST00000522667.1 - 0 108 TTGTTAttattgagacagggtctcac 0.466 OREG0018985 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- LOC401478 401478 broad.mit.edu 37 8 138877081 138877084 + RNA DEL TTTG TTTG - rs34554633 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:138877081_138877084delTTTG ENST00000518973.1 - 0 514 RP11-238K6.2_ENST00000519652.1_lincRNA AAGTGTCTTTtttgtttgtttgtt 0.382 2 4 --- --- --- --- LOC401478 401478 broad.mit.edu 37 8 139080418 139080419 + RNA DEL TT TT - rs55657408 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr8:139080418_139080419delTT ENST00000518973.1 - 0 514 RP11-489O18.1_ENST00000521793.1_lincRNA tttcttcaagtttttttttttt 0.317 4 2 --- --- --- --- VLDLR-AS1 401491 broad.mit.edu 37 9 2577485 2577486 + RNA INS - - A rs149496045 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:2577485_2577486insA ENST00000416826.2 - 0 185 RP11-125B21.2_ENST00000453601.1_RNA AGTCCAAATCCAAAAAAAAAAG 0.351 2 4 --- --- --- --- RFX3-AS1 101929302 broad.mit.edu 37 9 3661050 3661051 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:3661050_3661051insA ENST00000423112.2 + 0 394 AACAAAATCAGAAAACCAAGAg 0.421 2 4 --- --- --- --- RP11-575I8.1 0 broad.mit.edu 37 9 27835412 27835413 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:27835412_27835413insG ENST00000562922.1 + 0 213 tgcgctgtgctgggggggcatc 0.614 2 4 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68400387 68400387 + RNA DEL C C - rs111626719 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:68400387delC ENST00000417843.2 - 0 1432 GATCTGGGGTCCTCTGATGAG 0.542 7 11 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68406251 68406251 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:68406251delA ENST00000417843.2 - 0 224 atcaatggggaaaagattccc 0.378 7 4 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68408397 68408397 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:68408397delC ENST00000417843.2 - 0 67 tattataacactatagctgtg 0.299 4 7 --- --- --- --- RNA5SP284 100873537 broad.mit.edu 37 9 68409028 68409029 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:68409028_68409029insG ENST00000417843.2 - 0 67 RNA5SP284_ENST00000384547.1_RNA ctggtaatagcggtaccgtagg 0.614 7 25 --- --- --- --- LOC101928438 101928438 broad.mit.edu 37 9 102497904 102497904 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:102497904delA ENST00000427039.1 - 0 190 TGAGGATCACAAAAAAAAAGC 0.403 3 3 --- --- --- --- LINC00587 414319 broad.mit.edu 37 9 105349033 105349034 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:105349033_105349034insA ENST00000374801.3 + 0 267 NR_103830.1 ctttaccaaagaaaaaaaaaTG 0.500 2 4 --- --- --- --- RP11-281A20.2 0 broad.mit.edu 37 9 120568134 120568135 + RNA INS - - T rs12001924 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:120568134_120568135insT ENST00000421509.2 + 0 121 CATAAACATTCtttttttttct 0.386 2 4 --- --- --- --- RP11-343J18.2 0 broad.mit.edu 37 9 128876586 128876587 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:128876586_128876587insT ENST00000441473.1 + 0 235 AGGTCATGCCCCTCTGCCCCCA 0.599 2 4 --- --- --- --- RP11-247A12.2 0 broad.mit.edu 37 9 131945682 131945683 + RNA INS - - TTCA rs55653256 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr9:131945682_131945683insTTCA ENST00000372490.3 + 0 367 GTGttcatttgttcattcattc 0.480 2 4 --- --- --- --- RP11-385N23.1 0 broad.mit.edu 37 10 7575258 7575259 + RNA INS - - G rs140338567 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:7575258_7575259insG ENST00000414631.1 + 0 90_91 agcatcactgcgggggcggggg 0.574 2 4 --- --- --- --- RP11-543F8.2 0 broad.mit.edu 37 10 8477692 8477693 + RNA INS - - T rs68043344 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:8477692_8477693insT ENST00000413286.1 + 0 141 TGCCAATGGGATTTTTTTTTCC 0.455 4 2 --- --- --- --- LINC00710 254312 broad.mit.edu 37 10 10989567 10989567 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:10989567delC ENST00000428520.2 - 0 158 NR_015413.1 gcctcggtgtcctcagtgcct 0.418 2 4 --- --- --- --- WAC-AS1 220906 broad.mit.edu 37 10 28819668 28819668 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:28819668delG ENST00000528337.1 - 0 620 WAC-AS1_ENST00000527986.1_RNA NR_033805.1 tagtacagatggggtttcaaa 0.502 2 4 --- --- --- --- LOC101929475 101929475 broad.mit.edu 37 10 33292800 33292800 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:33292800delT ENST00000450890.1 + 0 287 ctgTACCAGATTTTTTTTTTT 0.328 2 4 --- --- --- --- LOC101929475 101929475 broad.mit.edu 37 10 33299589 33299590 + RNA INS - - T rs113245948 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:33299589_33299590insT ENST00000450890.1 + 0 287 TCCATCTGGAATTGCACCATGA 0.495 OREG0020116 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 4 --- --- --- --- RP11-309N24.1 0 broad.mit.edu 37 10 36186119 36186119 + RNA DEL T T - rs71739341 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:36186119delT ENST00000442783.1 - 0 550 aagcttcaggttttttttttt 0.383 2 4 --- --- --- --- RP11-672F9.1 0 broad.mit.edu 37 10 38562927 38562927 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:38562927delT ENST00000450980.1 + 0 144 agctggtccatcagaatgcag 0.453 3 4 --- --- --- --- ANKRD30BP3 338579 broad.mit.edu 37 10 45655882 45655882 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:45655882delA ENST00000427229.2 + 0 2144 gttggggttcaggaacagacc 0.393 2 4 --- --- --- --- LINC00842 643650 broad.mit.edu 37 10 47109455 47109456 + RNA INS - - C rs11413452 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:47109455_47109456insC ENST00000422732.2 - 0 435 NR_033957.1 tagagcaTCCTCCCCCCCCATC 0.520 2 4 --- --- --- --- RP11-170M17.1 0 broad.mit.edu 37 10 65601280 65601281 + RNA DEL GA GA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:65601280_65601281delGA ENST00000444770.1 + 0 494 ATGCGCGCACGAGAGAGAGAGA 0.416 2 4 --- --- --- --- ZMIZ1-AS1 283050 broad.mit.edu 37 10 80732184 80732185 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:80732184_80732185insG ENST00000456353.1 - 0 1012 NR_024431.2 AAGCCCTGGCTGGGGGGGCTGC 0.614 2 4 --- --- --- --- ZNF518A 9849 broad.mit.edu 37 10 97896416 97896416 + RNA DEL A A - rs138883279 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:97896416delA ENST00000534948.1 + 0 456 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) atctctatttaaaaaaaaaTG 0.423 3 4 --- --- --- --- CNNM1 26507 broad.mit.edu 37 10 101089521 101089522 + Frame_Shift_Ins INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:101089521_101089522insC ENST00000356713.4 + 1 666_667 c.377_378insC c.(376-378)cccfs p.P126fs CNNM1_ENST00000370528.3_Intron|CNNM1_ENST00000446890.1_Intron NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 126 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GTCCCCACTCGCCCCCCGGGAC 0.757 3 4 --- --- --- --- LINC01514 101927396 broad.mit.edu 37 10 102948453 102948453 + RNA DEL A A - rs11303556 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:102948453delA ENST00000434189.2 + 0 545 actccgtctcaaaaaaaaaaa 0.502 2 4 --- --- --- --- RP11-655H13.2 0 broad.mit.edu 37 10 110591860 110591861 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:110591860_110591861insC ENST00000421481.1 + 0 69 tgtagaaccaacccccatgact 0.386 2 4 --- --- --- --- WDR11-AS1 283089 broad.mit.edu 37 10 122601765 122601765 + RNA DEL A A - rs56763571 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr10:122601765delA ENST00000598981.1 - 0 103 NR_033850.1 accttgtcttaaaaaaaaaaa 0.388 4 3 --- --- --- --- RP11-179A10.1 0 broad.mit.edu 37 11 11163614 11163614 + RNA DEL G G - rs56336964 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:11163614delG ENST00000525758.1 + 0 108 ATACAGGGGAGCTGTGGGCTA 0.423 2 4 --- --- --- --- RP11-531H8.2 0 broad.mit.edu 37 11 15630245 15630246 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:15630245_15630246insC ENST00000533082.1 - 0 87 aaaaaGCAGGACCCCCCCTTCA 0.351 2 4 --- --- --- --- RP11-531H8.2 0 broad.mit.edu 37 11 15630858 15630859 + RNA INS - - CA rs35864841 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:15630858_15630859insCA ENST00000533082.1 - 0 87 AGATCACAAACCACACATTTGC 0.455 3 4 --- --- --- --- RP11-587D21.4 0 broad.mit.edu 37 11 27769399 27769399 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:27769399delG ENST00000530663.1 - 0 147 ttgggaggccgaggcaggtgg 0.488 2 4 --- --- --- --- RP11-115J23.1 0 broad.mit.edu 37 11 28900658 28900659 + RNA INS - - T rs139199628 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:28900658_28900659insT ENST00000513853.1 + 0 304 attggtggacattgggttggtt 0.361 2 4 --- --- --- --- RP11-466I1.1 0 broad.mit.edu 37 11 29216789 29216790 + RNA DEL AC AC - rs141673696 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:29216789_29216790delAC ENST00000530960.1 + 0 184 acacacacagacacacacacac 0.347 6 3 --- --- --- --- RP1-65P5.1 0 broad.mit.edu 37 11 32348861 32348861 + RNA DEL T T - rs59935767 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:32348861delT ENST00000525689.1 - 0 122 TTGATCTCCCTTTTTTTTTTT 0.383 2 4 --- --- --- --- RP11-124G5.3 0 broad.mit.edu 37 11 41591613 41591614 + RNA INS - - GTGC rs150154163 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:41591613_41591614insGTGC ENST00000526978.1 - 0 519 tgtgtgtgtgtgcgtgtgCTGG 0.406 3 3 --- --- --- --- RP11-430H10.4 0 broad.mit.edu 37 11 45520481 45520482 + RNA DEL CA CA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:45520481_45520482delCA ENST00000528445.1 - 0 530 RP11-958J22.1_ENST00000533315.1_RNA atctctgtctcacacacacaca 0.500 2 4 --- --- --- --- RP11-702H23.4 0 broad.mit.edu 37 11 74163074 74163074 + RNA DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:74163074delC ENST00000533008.1 + 0 154 TAGTATCTGTCCCCCACACTT 0.443 2 4 --- --- --- --- LOC283214 283214 broad.mit.edu 37 11 75476506 75476507 + RNA DEL TT TT - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:75476506_75476507delTT ENST00000499390.2 - 0 154 NR_046090.1 Cttatcttcctttttttttttt 0.525 2 4 --- --- --- --- LOC101928989 101928989 broad.mit.edu 37 11 82094770 82094770 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:82094770delT ENST00000500502.1 - 0 235 ctggacaatgtttttatacac 0.522 2 4 --- --- --- --- RP11-164N3.2 0 broad.mit.edu 37 11 87825517 87825518 + RNA INS - - GAGGGAGG rs139664037 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:87825517_87825518insGAGGGAGG ENST00000531454.1 - 0 236 agagagagggagggagagagag 0.520 2 4 --- --- --- --- RP11-867G2.8 0 broad.mit.edu 37 11 94371067 94371067 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:94371067delG ENST00000536540.1 - 0 437 RP11-867G2.8_ENST00000537874.1_RNA CCGTCGGACTGGGAGGATTCC 0.512 2 4 --- --- --- --- RP11-867G2.8 0 broad.mit.edu 37 11 94421544 94421544 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:94421544delA ENST00000536540.1 - 0 139 RP11-867G2.8_ENST00000537874.1_RNA tatgctcctgaataaccaatg 0.323 2 4 --- --- --- --- RP11-94P11.4 0 broad.mit.edu 37 11 105107460 105107461 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:105107460_105107461insA ENST00000528811.1 - 0 189 acgagcatatgaaaaaaatgct 0.307 2 4 --- --- --- --- RP11-708B6.2 0 broad.mit.edu 37 11 109245795 109245795 + RNA DEL G G - rs58455933 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:109245795delG ENST00000532992.1 - 0 427 aaaaaaAAAAGGGAAAGAGAA 0.353 4 2 --- --- --- --- LINC00900 283143 broad.mit.edu 37 11 115631090 115631091 + RNA INS - - C rs140415173 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:115631090_115631091insC ENST00000539305.1 + 0 163 CCCTCCCGCCGCCCCCCCCTCG 0.683 2 4 --- --- --- --- MIR100HG 399959 broad.mit.edu 37 11 121963924 121963925 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:121963924_121963925insT ENST00000531381.1 - 0 732 TAATGTTTCTCTTTTTTTATAA 0.297 2 4 --- --- --- --- PKNOX2-AS1 103695364 broad.mit.edu 37 11 125032477 125032478 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr11:125032477_125032478insT ENST00000532316.1 - 0 269 TTGGATAATCATTTTTTAAGCT 0.327 2 4 --- --- --- --- RP11-1038A11.1 0 broad.mit.edu 37 12 5513436 5513436 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:5513436delT ENST00000538430.1 + 0 238 gccttttttctccatgtgcgt 0.498 2 4 --- --- --- --- LOC100506393 100506393 broad.mit.edu 37 12 20230190 20230191 + RNA DEL AA AA - rs10576937 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:20230190_20230191delAA ENST00000536666.1 + 0 314 NR_040098.1 aaaacaaaacaaaAAAAAAACA 0.337 5 1 --- --- --- --- RP11-547C5.2 0 broad.mit.edu 37 12 43377747 43377747 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:43377747delA ENST00000551279.1 - 0 405 aatttacaagaaaaaaaaaca 0.348 2 4 --- --- --- --- RP11-370I10.2 0 broad.mit.edu 37 12 48628846 48628847 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:48628846_48628847insA ENST00000547523.1 - 0 269 ggggtctttggaaaaaaaacag 0.411 2 4 --- --- --- --- RP11-1100L3.7 0 broad.mit.edu 37 12 52474660 52474661 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:52474660_52474661insG ENST00000550301.1 - 0 33 OR7E47P_ENST00000546390.1_RNA GGTCGTGGGGAGGGGGTGGTGA 0.649 2 4 --- --- --- --- RP11-314D7.4 0 broad.mit.edu 37 12 73636614 73636615 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:73636614_73636615insA ENST00000549058.1 - 0 306 gaaatgcaatgaaaaaagatgt 0.307 2 4 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76149117 76149118 + RNA INS - - ACAC rs56295424 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:76149117_76149118insACAC ENST00000552856.1 - 0 326 TCTGGATTTTTacacacacaca 0.421 2 4 --- --- --- --- RP11-263K4.5 0 broad.mit.edu 37 12 82891290 82891290 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:82891290delA ENST00000552532.1 - 0 27 TGTCATAGTGAAAAAAAAAAG 0.338 2 4 --- --- --- --- RP11-693J15.4 0 broad.mit.edu 37 12 92859562 92859562 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:92859562delG ENST00000508671.1 + 0 305 GGCTTTGGCCGCCATCCTAGG 0.418 2 4 --- --- --- --- RP11-690J15.1 0 broad.mit.edu 37 12 98682371 98682372 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:98682371_98682372insG ENST00000548344.1 - 0 36 GGAAAACTGTCGGGGGGTAATA 0.312 2 4 --- --- --- --- FAM101A 144347 broad.mit.edu 37 12 124719518 124719520 + RNA DEL ATA ATA - rs112028864 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:124719518_124719520delATA ENST00000540762.1 + 0 444 cattaccaccataatcatcatca 0.488 4 4 --- --- --- --- LINC00944 387895 broad.mit.edu 37 12 127242569 127242569 + RNA DEL A A - rs72407170 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr12:127242569delA ENST00000540684.1 - 0 333 NR_033878.1 TAAGGCTGGGAAAAAAAAAAA 0.348 6 0 --- --- --- --- TPTE2P6 374491 broad.mit.edu 37 13 25154164 25154165 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:25154164_25154165insT ENST00000453498.1 + 0 411 ccttaagtgagtttttttaatt 0.297 3 3 --- --- --- --- EEF1DP3 196549 broad.mit.edu 37 13 32457540 32457540 + RNA DEL A A - rs10609699 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:32457540delA ENST00000428783.1 + 0 99 caaaaaaaacaaaaaaaaaaa 0.408 2 4 --- --- --- --- RP11-141M1.3 0 broad.mit.edu 37 13 33963091 33963092 + RNA INS - - T rs67132574 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:33963091_33963092insT ENST00000454681.2 - 0 260 AGGGGTCCttcttttttttttt 0.480 3 4 --- --- --- --- RP11-141M1.3 0 broad.mit.edu 37 13 34030570 34030571 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:34030570_34030571insC ENST00000454681.2 - 0 226 caagagatctgcccccctcagc 0.505 2 4 --- --- --- --- SMIM2-AS1 101929212 broad.mit.edu 37 13 44743447 44743450 + RNA DEL AAAG AAAG - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:44743447_44743450delAAAG ENST00000437867.1 + 0 219 agaaagaaaaaaagaaagaaagaa 0.314 3 5 --- --- --- --- SMIM2-AS1 101929212 broad.mit.edu 37 13 44754425 44754426 + RNA DEL CA CA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:44754425_44754426delCA ENST00000437867.1 + 0 219 tctattctctcacagttctgga 0.441 5 2 --- --- --- --- SMIM2-AS1 101929212 broad.mit.edu 37 13 44761954 44761954 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:44761954delT ENST00000437867.1 + 0 219 ATGCAGTTGATTTTTTCATTC 0.383 2 4 --- --- --- --- RP11-442J21.1 0 broad.mit.edu 37 13 45248681 45248681 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:45248681delG ENST00000426509.1 + 0 198 cacgatgcctggcTCTGAAAT 0.403 2 4 --- --- --- --- LINC00355 144766 broad.mit.edu 37 13 64618952 64618953 + RNA INS - - AA rs3064472 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:64618952_64618953insAA ENST00000456627.1 - 0 770 tctgtctcaagaaaaaaaaaaa 0.480 2 4 --- --- --- --- LINC00348 100885781 broad.mit.edu 37 13 71677544 71677544 + RNA DEL T T - rs140378470 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:71677544delT ENST00000428761.1 + 0 108 NR_047699.1 ttcttacaagttttttttttt 0.353 2 4 --- --- --- --- LINC00393 100874156 broad.mit.edu 37 13 74222185 74222186 + RNA INS - - TTTGGTTCA rs66720278 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:74222185_74222186insTTTGGTTCA ENST00000452852.1 - 0 31 aaaaaaaaaaCTTTGGTTCAGA 0.460 2 4 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 78954940 78954941 + RNA INS - - T rs144575662 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:78954940_78954941insT ENST00000607862.1 + 0 315 RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606429.1_RNA ggaactcatcctttttatggct 0.416 3 6 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 79113301 79113301 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:79113301delG ENST00000607862.1 + 0 315 RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606429.1_RNA ggagagaggtgggaggggagt 0.433 2 4 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 79129928 79129929 + RNA INS - - A rs142063951 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:79129928_79129929insA ENST00000607862.1 + 0 315 RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606429.1_RNA GTGGTTAAGTTAAAAAAAAAAC 0.396 6 7 --- --- --- --- LINC00343 144920 broad.mit.edu 37 13 106402715 106402716 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr13:106402715_106402716insC ENST00000454555.2 + 0 927 NR_046391.1 TGGCAGGCTGGCCCCCAGATGG 0.485 2 4 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138376 20138376 + RNA DEL G G - rs57620493 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:20138376delG ENST00000548261.1 + 0 391 ACAaaagaaagaaagaaagaa 0.388 4 4 --- --- --- --- RP11-314P15.2 0 broad.mit.edu 37 14 26334319 26334320 + RNA INS - - CTAT rs142102969 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:26334319_26334320insCTAT ENST00000546412.1 - 0 258 CACTAGGAACACTATCTCCTTG 0.455 3 3 --- --- --- --- RP11-314P15.2 0 broad.mit.edu 37 14 26479831 26479831 + RNA DEL G G - rs145515209 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:26479831delG ENST00000546412.1 - 0 258 taggcttggtggggggggggg 0.458 3 5 --- --- --- --- NOVA1-AS1 387977 broad.mit.edu 37 14 27202326 27202327 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:27202326_27202327insC ENST00000552826.1 + 0 186 cccttcctccaccccaactact 0.396 2 4 --- --- --- --- LOC101927062 101927062 broad.mit.edu 37 14 27266371 27266372 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:27266371_27266372insA ENST00000549330.1 - 0 292 NOVA1-AS1_ENST00000552101.1_RNA|NOVA1-AS1_ENST00000548328.1_RNA|NOVA1-AS1_ENST00000552826.1_RNA gtataCTCACTAAAAAATTGGA 0.327 2 4 --- --- --- --- RP11-384J4.2 0 broad.mit.edu 37 14 27427196 27427198 + RNA DEL AAA AAA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:27427196_27427198delAAA ENST00000552303.1 + 0 205 tcatgcatgtaaaaaaaaaaaaa 0.394 2 4 --- --- --- --- RP11-384J4.2 0 broad.mit.edu 37 14 27618003 27618003 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:27618003delT ENST00000552303.1 + 0 424 tttctaactattttttgtacc 0.323 2 4 --- --- --- --- LOC728755 728755 broad.mit.edu 37 14 27765327 27765328 + RNA INS - - C rs112978932 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:27765327_27765328insC ENST00000553392.1 - 0 528 ttctgccccagcccccccaaac 0.421 2 4 --- --- --- --- LOC728755 728755 broad.mit.edu 37 14 28044922 28044923 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:28044922_28044923insA ENST00000553392.1 - 0 262 taatacattttaaaaaagaaat 0.312 2 4 --- --- --- --- FOXG1-AS1 103695363 broad.mit.edu 37 14 29233401 29233402 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:29233401_29233402insT ENST00000551395.1 - 0 135 RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA AGCTAATTTCGTTTTTTTTTTC 0.342 3 5 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44542991 44542992 + RNA INS - - T rs140003670 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:44542991_44542992insT ENST00000553827.1 - 0 69 CTCCTTTTTTCTTTTTTTTAGT 0.337 3 4 --- --- --- --- RP11-369C8.1 0 broad.mit.edu 37 14 46183338 46183338 + RNA DEL A A - rs34215564 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:46183338delA ENST00000555442.1 - 0 603 actccgtctcaaaaaaaaaaa 0.498 2 4 --- --- --- --- LINC00519 161342 broad.mit.edu 37 14 51773730 51773731 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:51773730_51773731insC ENST00000557518.1 - 0 257 gtctgtctcttccccctctgca 0.431 4 7 --- --- --- --- RP11-255G12.2 0 broad.mit.edu 37 14 51835988 51835989 + RNA INS - - TTTG rs112359877 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:51835988_51835989insTTTG ENST00000555649.1 - 0 43 GTTtttgtttatttgtttgttt 0.446 5 10 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57316729 57316730 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:57316729_57316730insG ENST00000534909.2 + 0 287 OTX2-AS1_ENST00000554725.1_RNA|OTX2-AS1_ENST00000554358.1_RNA|OTX2-AS1_ENST00000554428.1_RNA NR_029385.1 aaaaagtgtttggggggcagag 0.455 4 7 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57318209 57318210 + RNA INS - - CAGTA rs150446705 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:57318209_57318210insCAGTA ENST00000534909.2 + 0 287 OTX2-AS1_ENST00000554725.1_RNA|OTX2-AS1_ENST00000554358.1_RNA|OTX2-AS1_ENST00000554428.1_RNA NR_029385.1 tgagaatttgccagtacagtac 0.505 2 4 --- --- --- --- RP11-618G20.1 0 broad.mit.edu 37 14 62218159 62218160 + RNA INS - - G rs72405304 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:62218159_62218160insG ENST00000555937.1 + 0 148 GTTTTTTAGATGGGGGGGGCGT 0.540 2 4 --- --- --- --- RP11-11K13.1 0 broad.mit.edu 37 14 83261181 83261181 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:83261181delT ENST00000554451.1 - 0 149 CCTGGCCTCCTTTTTTTGTTT 0.383 2 4 --- --- --- --- RP11-1152H15.1 0 broad.mit.edu 37 14 88220931 88220931 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr14:88220931delT ENST00000554305.1 - 0 335 TTCCCTGGTATTTTTTTTTCT 0.373 2 4 --- --- --- --- CHEK2P2 646096 broad.mit.edu 37 15 20492133 20492136 + RNA DEL ATAT ATAT - rs55679326 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:20492133_20492136delATAT ENST00000555186.1 + 0 568 NR_038836.1 AAAAAGACAGATATATATATATAT 0.373 2 4 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25360698 25360699 + RNA DEL TC TC - rs72377985 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:25360698_25360699delTC ENST00000549804.2 + 0 4106_4107 cccctgggtgtctctctctctc 0.525 2 4 --- --- --- --- RP11-30G8.2 0 broad.mit.edu 37 15 27873415 27873416 + RNA INS - - A rs148330744 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:27873415_27873416insA ENST00000553822.1 + 0 218 aaaattataggaaaaaatagaa 0.267 3 3 --- --- --- --- DPH6-AS1 100507466 broad.mit.edu 37 15 36011005 36011005 + RNA DEL T T - rs139552670 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:36011005delT ENST00000501169.2 + 0 462 NR_038251.1 TCTTTCTTTCTTTTTTTTTTT 0.383 3 4 --- --- --- --- RP11-624L4.1 0 broad.mit.edu 37 15 39361704 39361705 + RNA INS - - CC TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:39361704_39361705insCC ENST00000560197.1 - 0 170 RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA TAGAGCCCCTGCCCCCCCTCAA 0.431 3 5 --- --- --- --- RP11-265N7.2 0 broad.mit.edu 37 15 39467721 39467722 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:39467721_39467722insA ENST00000558255.1 + 0 251 RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA TCAGATTTTTTATTCCCTGCCT 0.297 2 4 --- --- --- --- RP11-624L4.1 0 broad.mit.edu 37 15 39620811 39620811 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:39620811delT ENST00000559318.1 - 0 408 RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA GGGATAAACCTGTGTGTGTGT 0.393 2 4 --- --- --- --- RP11-208K4.1 0 broad.mit.edu 37 15 48292886 48292887 + RNA INS - - A rs71864785 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:48292886_48292887insA ENST00000560900.1 + 0 258 AATCTTATTCCAAAAAAAAAAA 0.366 6 6 --- --- --- --- LOC102723344 102723344 broad.mit.edu 37 15 63709234 63709235 + RNA INS - - A rs36075600 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:63709234_63709235insA ENST00000559821.1 + 0 255 aactccgtctcaaaaaaaaaaa 0.446 3 5 --- --- --- --- RP11-138H8.3 0 broad.mit.edu 37 15 71069139 71069140 + RNA INS - - T rs111404241 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:71069139_71069140insT ENST00000557828.1 - 0 87 gagtcccctaattttttttcca 0.406 3 5 --- --- --- --- CTD-2034I4.1 0 broad.mit.edu 37 15 81811715 81811715 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:81811715delA ENST00000559211.1 + 0 98 CTACAGAGTCaaggctggaaa 0.468 2 4 --- --- --- --- CTD-2034I4.1 0 broad.mit.edu 37 15 81847411 81847412 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:81847411_81847412insT ENST00000559211.1 + 0 98 TATACACATTGttttttttttg 0.396 4 5 --- --- --- --- RP11-499F3.2 0 broad.mit.edu 37 15 82051389 82051389 + RNA DEL T T - rs35953267 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:82051389delT ENST00000560054.1 - 0 201 TGAGTCCCACTTTTTTTTTTT 0.348 2 4 --- --- --- --- RP11-648K4.2 0 broad.mit.edu 37 15 88228188 88228188 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:88228188delT ENST00000560439.1 - 0 80 ATCCTCTCTCTTTTGGGCAGC 0.433 2 4 --- --- --- --- RP11-152L20.3 0 broad.mit.edu 37 15 92775391 92775392 + RNA INS - - G rs150893919 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:92775391_92775392insG ENST00000561674.1 - 0 185 tacggggTTGCGGGGGGCACTA 0.520 2 4 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93856823 93856846 + RNA DEL CCTCCCTCCCTTCCTTCCTTCCTT CCTCCCTCCCTTCCTTCCTTCCTT - rs72151927 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:93856823_93856846delCCTCCCTCCCTTCCTTCCTTCCTT ENST00000543286.1 + 0 421 tccctccctccctccctcccttccttccttccttccttccttcc 0.536 2 4 --- --- --- --- RP11-739G5.1 0 broad.mit.edu 37 15 94137511 94137511 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:94137511delA ENST00000554318.2 + 0 324 TATTGGGATGAAAAAAATTGT 0.378 2 4 --- --- --- --- LINC01579 283682 broad.mit.edu 37 15 94304964 94304965 + RNA DEL AT AT - rs57958347 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:94304964_94304965delAT ENST00000557481.2 - 0 540 GACATTCCTCAtatttacttgt 0.446 7 4 --- --- --- --- RP11-522B15.3 0 broad.mit.edu 37 15 96918836 96918836 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:96918836delT ENST00000558499.1 + 0 123 ACCTGGGttcttttttttttt 0.473 3 3 --- --- --- --- CTD-2147F2.1 0 broad.mit.edu 37 15 97872248 97872248 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:97872248delT ENST00000560314.1 + 0 443 GCATATATGAttttttttttt 0.408 2 4 --- --- --- --- CTD-2147F2.1 0 broad.mit.edu 37 15 97880601 97880602 + RNA INS - - C rs57566486 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:97880601_97880602insC ENST00000560314.1 + 0 443 CTGATATCAAACCCCCCCCCTT 0.322 2 4 --- --- --- --- CTD-2147F2.1 0 broad.mit.edu 37 15 97911976 97911977 + RNA DEL AG AG - rs60943313 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:97911976_97911977delAG ENST00000560314.1 + 0 443 aaagaaagaaagagaaaaCGgg 0.431 2 4 --- --- --- --- RP11-66B24.5 0 broad.mit.edu 37 15 101261353 101261354 + RNA DEL TG TG - rs74340930 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr15:101261353_101261354delTG ENST00000559755.1 + 0 123 AGATGGGTCTtgtgtgtgtgtg 0.505 2 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5393482 5393483 + RNA INS - - T rs142312812 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:5393482_5393483insT ENST00000569895.1 + 0 304 caccaggctaattttttttttt 0.500 5 1 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5840876 5840876 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:5840876delT ENST00000569895.1 + 0 403 tttttttttgttttttttttt 0.453 2 4 --- --- --- --- RP11-279O17.3 0 broad.mit.edu 37 16 8404050 8404051 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:8404050_8404051insA ENST00000564185.1 + 0 363 gactccatcttaaaaaaaaaaa 0.436 4 5 --- --- --- --- CTD-3037G24.3 0 broad.mit.edu 37 16 12680222 12680222 + RNA DEL C C - rs34480842 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:12680222delC ENST00000564505.1 - 0 307 acacgatcctccccgcctctg 0.493 3 4 --- --- --- --- U91319.1 0 broad.mit.edu 37 16 13483982 13483983 + RNA DEL TT TT - rs3049137 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:13483982_13483983delTT ENST00000571619.1 + 0 420 TTTTCTAACCTTTTTTTTTTTT 0.337 2 4 --- --- --- --- CTA-481E9.4 0 broad.mit.edu 37 16 18087286 18087286 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:18087286delT ENST00000567304.1 - 0 144 GAAAAAGGGATTTTTTTTTTA 0.468 2 4 --- --- --- --- CTA-481E9.3 0 broad.mit.edu 37 16 18195594 18195594 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:18195594delT ENST00000563866.1 - 0 48 CTA-481E9.4_ENST00000567304.1_lincRNA TGTCACAATGTTTTACAATGA 0.438 2 4 --- --- --- --- ABCC6P1 653190 broad.mit.edu 37 16 18603631 18603631 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:18603631delA ENST00000546162.2 + 0 1203 NR_003569.1 aAgtgggaacaaaaactccac 0.433 2 4 --- --- --- --- LOC653786 653786 broad.mit.edu 37 16 22586935 22586935 + RNA DEL T T - rs57921352 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:22586935delT ENST00000550753.1 + 0 2407 NR_003676.2 gttgtttctattttttttttt 0.398 3 4 --- --- --- --- AC002331.1 0 broad.mit.edu 37 16 26596850 26596850 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:26596850delA ENST00000443373.1 - 0 104 cccaaatctcaaatacctatc 0.289 2 4 --- --- --- --- RP11-652G5.1 0 broad.mit.edu 37 16 32618573 32618574 + RNA DEL AA AA - rs80051962 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:32618573_32618574delAA ENST00000562976.1 + 0 383 actccatctcaaaaaaaaaaaa 0.475 2 4 --- --- --- --- RP11-467L24.1 0 broad.mit.edu 37 16 64417130 64417131 + RNA DEL CA CA - rs71849661 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:64417130_64417131delCA ENST00000564046.1 + 0 116 cccctatcttcacacacacaca 0.495 2 4 --- --- --- --- RP11-351A20.1 0 broad.mit.edu 37 16 65640336 65640337 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:65640336_65640337insA ENST00000563811.1 + 0 83 ACCTAAAACACAAAAAAACACT 0.416 2 4 --- --- --- --- LOC102724084 102724084 broad.mit.edu 37 16 80322280 80322280 + RNA DEL A A - rs34724233 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:80322280delA ENST00000565050.1 - 0 598 RP11-525K10.3_ENST00000568819.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA ttatttttttaaaaaAATGCA 0.363 4 4 --- --- --- --- LOC102724084 102724084 broad.mit.edu 37 16 80592418 80592418 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr16:80592418delT ENST00000568776.1 - 0 107 cTTGTTGTGCTTTTGACAGTC 0.522 2 4 --- --- --- --- TMEM220-AS1 101101775 broad.mit.edu 37 17 10694357 10694357 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:10694357delT ENST00000580899.1 + 0 105 NR_073458.1 GCTGGATGCCTTCAAGTGCTG 0.388 2 4 --- --- --- --- COX10-AS1 100874058 broad.mit.edu 37 17 13818740 13818741 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:13818740_13818741insG ENST00000602743.1 - 0 224 ctgatacttttgggggtctgac 0.485 2 4 --- --- --- --- LGALS9B 284194 broad.mit.edu 37 17 20370782 20370783 + Translation_Start_Site INS - - TC rs147679570 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:20370782_20370783insTC ENST00000423676.3 - 0 64_65 LGALS9B_ENST00000324290.5_Start_Codon_Ins Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B sugar binding p.M1fs*12(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 GCTGAAGGCCATCTCCACCGCC 0.584 2 4 --- --- --- --- CCDC144NL-AS1 440416 broad.mit.edu 37 17 20866843 20866844 + RNA DEL AA AA - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:20866843_20866844delAA ENST00000582583.1 + 0 799 RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA caaaaaaattaaaaaaaaaaaa 0.485 2 4 --- --- --- --- RP11-6N17.10 0 broad.mit.edu 37 17 46063791 46063792 + RNA INS - - CTTTCAGTGTTGCT rs150326492 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:46063791_46063792insCTTTCAGTGTTGCT ENST00000578239.1 - 0 246 TCTAATCCACCCTGGGCCTTTT 0.500 2 4 --- --- --- --- RP11-6N17.10 0 broad.mit.edu 37 17 46066042 46066043 + RNA INS - - C rs58922861 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:46066042_46066043insC ENST00000578239.1 - 0 246 ATCCTTCCCCTCCCCCcacaca 0.460 2 4 --- --- --- --- TOB1-AS1 400604 broad.mit.edu 37 17 48979926 48979926 + RNA DEL A A - rs71149327 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:48979926delA ENST00000514358.1 + 0 161 TOB1-AS1_ENST00000523470.1_RNA gccctgtctcaaaaaaaaaaa 0.507 3 5 --- --- --- --- RP11-583F2.1 0 broad.mit.edu 37 17 62928118 62928119 + RNA INS - - A rs59715610 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:62928118_62928119insA ENST00000583052.1 + 0 438 tctctactaccaaaaaaaaaaa 0.480 2 4 --- --- --- --- RP11-143K11.5 0 broad.mit.edu 37 17 71185229 71185230 + RNA INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:71185229_71185230insC ENST00000580671.1 + 0 501 tgtgtcatctgcccccaaatca 0.505 2 4 --- --- --- --- DNAI2 64446 broad.mit.edu 37 17 72281229 72281229 + Frame_Shift_Del DEL G G - rs35985071 byFrequency TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr17:72281229delG ENST00000579490.1 + 2 540 c.405delG c.(403-405)gafs p.E135fs DNAI2_ENST00000311014.6_Frame_Shift_Del_p.E78fs|DNAI2_ENST00000446837.2_Frame_Shift_Del_p.E78fs|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Frame_Shift_Del_p.E78fs Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 78 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 ACCATGTCGAGGGGGGCTGGC 0.562 Kartagener syndrome 22 77 --- --- --- --- RP11-161I6.2 0 broad.mit.edu 37 18 2105785 2105796 + RNA DEL TATGTGTGTGTG TATGTGTGTGTG - rs113989860 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:2105785_2105796delTATGTGTGTGTG ENST00000579097.1 - 0 310 ttaaaaTATATAtgtgtgtgtgtgtgtgtgtg 0.429 3 3 --- --- --- --- RP11-138E9.2 0 broad.mit.edu 37 18 10329338 10329338 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:10329338delA ENST00000582531.1 - 0 385 GTACTCTTGGAAGGCCATACT 0.473 2 4 --- --- --- --- RP11-739N10.1 0 broad.mit.edu 37 18 25013324 25013325 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:25013324_25013325insT ENST00000584546.1 - 0 447 gtttatttctcttttttttttt 0.376 2 4 --- --- --- --- RP11-739N10.1 0 broad.mit.edu 37 18 25047224 25047225 + RNA INS - - GTCTC rs71376991 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:25047224_25047225insGTCTC ENST00000584546.1 - 0 447 AGGAAGGGCTTGTCTGCTGAGT 0.401 2 4 --- --- --- --- RP11-739N10.1 0 broad.mit.edu 37 18 25115691 25115692 + RNA DEL AC AC - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:25115691_25115692delAC ENST00000584546.1 - 0 260 AATATTCATTacacacacacac 0.272 3 3 --- --- --- --- LINC00669 647946 broad.mit.edu 37 18 37043504 37043504 + RNA DEL A A - rs141861299 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:37043504delA ENST00000591629.1 - 0 440 NR_024391.1 TCACTGAGGTAAAAAAAAAAA 0.308 5 4 --- --- --- --- LINC00669 647946 broad.mit.edu 37 18 37185018 37185018 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:37185018delT ENST00000591629.1 - 0 282 NR_024391.1 TCAAATGCTCTGTGGTAGAAA 0.423 2 4 --- --- --- --- LINC00669 647946 broad.mit.edu 37 18 37256294 37256294 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:37256294delA ENST00000591629.1 - 0 282 NR_024391.1 GGGACCATCTAAAAAATCAGC 0.433 2 4 --- --- --- --- RP11-671P2.1 0 broad.mit.edu 37 18 51089832 51089833 + RNA DEL CC CC - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:51089832_51089833delCC ENST00000582064.1 - 0 120 TCTAGTTTTTCCCAGAAAGGTG 0.396 2 4 --- --- --- --- LOC101927273 101927273 broad.mit.edu 37 18 53575306 53575306 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:53575306delT ENST00000563553.1 - 0 38 CTD-2008L17.1_ENST00000589440.1_lincRNA TGGCATACTCTTTTTTTTTTC 0.398 2 4 --- --- --- --- LOC642484 642484 broad.mit.edu 37 18 53716157 53716158 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr18:53716157_53716158insT ENST00000382897.2 - 0 1067 gggttgagcaccattttcagct 0.366 2 4 --- --- --- --- CTB-52I2.5 0 broad.mit.edu 37 19 18128876 18128877 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:18128876_18128877insA ENST00000598385.1 - 0 162 cccatctctacaaaaaaaaaaa 0.545 3 4 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20671902 20671902 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:20671902delA ENST00000598131.1 + 0 256 GATCTTCTGGAAAAAAAAAAA 0.313 2 4 --- --- --- --- LOC100420587 100420587 broad.mit.edu 37 19 29118140 29118140 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:29118140delT ENST00000592347.1 - 0 642 AC005616.1_ENST00000589999.1_RNA|AC005394.1_ENST00000585394.1_lincRNA tctttcttccttttttttttt 0.358 3 3 --- --- --- --- HPN-AS1 100128675 broad.mit.edu 37 19 35575877 35575878 + RNA DEL CA CA - rs72401910 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:35575877_35575878delCA ENST00000392227.2 - 0 404 NR_024562.1 TCCGCCAGCGcacacacacaca 0.505 2 4 --- --- --- --- CTC-301O7.4 0 broad.mit.edu 37 19 49838175 49838176 + RNA DEL AG AG - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:49838175_49838176delAG ENST00000358234.4 - 0 132 AAAGAAACACAGAGAGAGGGAG 0.490 2 4 --- --- --- --- ZNF761 388561 broad.mit.edu 37 19 53948237 53948237 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:53948237delT ENST00000454407.1 + 0 55 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) cttttttttcttttttttttt 0.448 3 4 --- --- --- --- SHISA7 729956 broad.mit.edu 37 19 55944700 55944702 + In_Frame_Del DEL GTG GTG - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr19:55944700_55944702delGTG ENST00000376325.4 - 4 1437_1439 c.1438_1440delCAC c.(1438-1440)del p.H480del NM_001145176.1 NP_001138648.1 A6NL88 SHSA7_HUMAN shisa family member 7 480 integral to membrane skin(1) 1 CGTGCAGGGCGTGGTGGTGGTGG 0.793 2 4 --- --- --- --- LOC727993 727993 broad.mit.edu 37 20 1951589 1951590 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr20:1951589_1951590insG ENST00000446562.1 + 0 1216 ctgcaggtgttggggggaggtg 0.441 2 4 --- --- --- --- RP11-103J8.1 0 broad.mit.edu 37 20 10676850 10676850 + RNA DEL T T - rs67862973 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr20:10676850delT ENST00000605292.1 + 0 98 TGTGAGTTTCTTTTTTTTTTA 0.498 3 4 --- --- --- --- RP11-49G10.3 0 broad.mit.edu 37 20 31803980 31803981 + RNA INS - - T rs71945127 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr20:31803980_31803981insT ENST00000419613.1 - 0 148 taccttacatcttttttttttt 0.485 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11077536 11077537 + RNA DEL GA GA - rs112276026 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr21:11077536_11077537delGA ENST00000470054.1 - 0 324 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) acaacaaggcgagactcttgtc 0.416 3 5 --- --- --- --- CHODL-AS1 54075 broad.mit.edu 37 21 19237121 19237121 + RNA DEL G G - rs7280263 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr21:19237121delG ENST00000447175.1 - 0 147 NR_024354.1 aaaatacaaagaaaaaatcag 0.522 2 4 --- --- --- --- LOC101927797 101927797 broad.mit.edu 37 21 20098512 20098513 + RNA INS - - AC rs80281290 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr21:20098512_20098513insAC ENST00000437492.1 - 0 332 tataaatacctacctcacaaag 0.312 4 2 --- --- --- --- AP000705.7 0 broad.mit.edu 37 21 23605003 23605003 + RNA DEL A A - rs66463347 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr21:23605003delA ENST00000444130.1 + 0 385 ggaaggaaggaaaagaaggaa 0.388 4 2 --- --- --- --- LINC00158 54072 broad.mit.edu 37 21 26766536 26766537 + RNA INS - - T rs77524707 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr21:26766536_26766537insT ENST00000332587.4 - 0 957 NR_024027.2 GGGGCCttttgttttttttttt 0.470 2 4 --- --- --- --- AJ006995.3 0 broad.mit.edu 37 21 29332903 29332904 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr21:29332903_29332904insG ENST00000433344.1 + 0 102 aatgcattcctggggggaggtc 0.426 2 4 --- --- --- --- LOC284825 284825 broad.mit.edu 37 21 29452073 29452073 + RNA DEL A A - rs11340329 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr21:29452073delA ENST00000426534.1 + 0 124 GATACTCAGGAAAAAAAAAAA 0.313 2 4 --- --- --- --- MIATNB 102724827 broad.mit.edu 37 22 27104094 27104095 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr22:27104094_27104095insT ENST00000437071.1 + 0 183 ttacttatttattagagacagg 0.441 2 4 --- --- --- --- MIATNB 102724827 broad.mit.edu 37 22 27117003 27117004 + RNA INS - - G rs150988863 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr22:27117003_27117004insG ENST00000437071.1 + 0 183 GTGGGGGTTGCGGGGAGCACCA 0.594 6 2 --- --- --- --- LL22NC03-86D4.1 0 broad.mit.edu 37 22 34421974 34421974 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr22:34421974delG ENST00000412218.1 + 0 55 TGGGTGTCCTGGGGAAAAGAG 0.398 2 4 --- --- --- --- TOM1 10043 broad.mit.edu 37 22 35719897 35719897 + Frame_Shift_Del DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr22:35719897delC ENST00000382034.5 + 7 779 c.437delC c.(436-438)acfs p.T146fs TOM1_ENST00000425375.1_Frame_Shift_Del_p.T168fs|TOM1_ENST00000449058.2_Frame_Shift_Del_p.T213fs|TOM1_ENST00000411850.1_Frame_Shift_Del_p.T213fs|TOM1_ENST00000436462.2_Frame_Shift_Del_p.T175fs|TOM1_ENST00000447733.1_Frame_Shift_Del_p.T180fs O60784 TOM1_HUMAN target of myb1 (chicken) 213 VHS. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 ATAGCACCAACCCCGGAACAG 0.642 16 85 --- --- --- --- CELSR1 9620 broad.mit.edu 37 22 46773101 46773101 + Frame_Shift_Del DEL C C - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr22:46773101delC ENST00000262738.3 - 24 7440 c.7441delG c.(7441-7443)cafs p.A2482fs NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2482 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGCAGGGCTGCCAGTGACAAG 0.612 2 4 --- --- --- --- LOC284930 284930 broad.mit.edu 37 22 48075385 48075386 + RNA INS - - C rs11461833 by1000genomes TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr22:48075385_48075386insC ENST00000423737.1 + 0 387 catccatccatcatccatccat 0.480 3 5 --- --- --- --- LOC284930 284930 broad.mit.edu 37 22 48130165 48130166 + RNA INS - - G TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chr22:48130165_48130166insG ENST00000423737.1 + 0 982 acccatcctttgggggtattct 0.500 2 4 --- --- --- --- PTCHD1-AS 100873065 broad.mit.edu 37 X 22642563 22642564 + RNA DEL TG TG - rs5901712 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:22642563_22642564delTG ENST00000455399.1 - 0 178 AGTATATATAtgtgtgtgtgtg 0.342 5 0 --- --- --- --- RP11-305F18.1 0 broad.mit.edu 37 X 33759600 33759600 + RNA DEL G G - rs61073309 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:33759600delG ENST00000439992.1 + 0 128 gattttttttgggggggggga 0.423 4 4 --- --- --- --- RP11-305F18.1 0 broad.mit.edu 37 X 33942849 33942850 + RNA INS - - T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:33942849_33942850insT ENST00000439992.1 + 0 229 gccaattatcatttttagagaa 0.406 2 4 --- --- --- --- LOC101928627 101928627 broad.mit.edu 37 X 36446756 36446757 + RNA DEL GT GT - rs57717267 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:36446756_36446757delGT ENST00000455438.1 - 0 4369 gtgtgtgcgcgtgtgtgtgtgt 0.332 2 4 --- --- --- --- FAM47C 442444 broad.mit.edu 37 X 37027986 37027987 + Frame_Shift_Ins INS - - C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:37027986_37027987insC ENST00000358047.3 + 1 1555_1556 c.1503_1504insC c.(1501-1506)gaccccfs p.DP501fs NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 501 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTGCCCAGAGCCCCCCAAGAC 0.609 7 396 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42410530 42410531 + RNA INS - - TG rs3078284 TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:42410530_42410531insTG ENST00000411879.1 + 0 523 TTGACTTAACTtgtgtgtgtgt 0.391 4 3 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42546190 42546191 + RNA DEL AG AG - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:42546190_42546191delAG ENST00000411879.1 + 0 748 agagaaagaaagagagagagag 0.470 4 8 --- --- --- --- LINC01278 92249 broad.mit.edu 37 X 62773006 62773007 + RNA INS - - A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:62773006_62773007insA ENST00000433061.1 - 0 218 ttacttgtcacaaaaaagcctg 0.327 2 4 --- --- --- --- RP5-964N17.1 0 broad.mit.edu 37 X 112909430 112909430 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:112909430delA ENST00000468762.2 - 0 26 aactatagataaagggggacc 0.363 2 4 --- --- --- --- RP1-30E17.2 0 broad.mit.edu 37 X 127491311 127491311 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:127491311delA ENST00000449485.1 - 0 362 AAAGCAGAAGAAAAAAAATAG 0.378 2 4 --- --- --- --- LINC01201 104266960 broad.mit.edu 37 X 130131095 130131095 + RNA DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:130131095delG ENST00000451431.1 - 0 134 AAGGTGGTTAGGGGGCCTCCA 0.478 2 4 --- --- --- --- GS1-256O22.5 0 broad.mit.edu 37 X 142435840 142435840 + RNA DEL A A - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:142435840delA ENST00000431432.1 + 0 90 GGCtaaatttaaaaaaaaaaa 0.363 3 3 --- --- --- --- GS1-256O22.5 0 broad.mit.edu 37 X 142491624 142491624 + RNA DEL T T - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92bc438b-02c1-4b81-a90a-4a1302786a81 5dc347a7-4f8f-4040-aa56-e92f99cfc4b3 g.chrX:142491624delT ENST00000431432.1 + 0 268 ATATTTGACCTTTTTTTTTTT 0.353 3 3 --- --- --- ---