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 PIKFYVE 200576 broad.mit.edu 37 2 209195289 209195289 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:209195289G>T ENST00000264380.4 + 23 3992 c.3834G>T c.(3832-3834)atG>atT p.M1278I NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1278 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 ATACCCCCATGGTACATCATA 0.433000 20 399 1.64293e-13 2.4644e-13 0.083992 1 0 GPR133 283383 broad.mit.edu 37 12 131590330 131590330 + Missense_Mutation SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:131590330C>T ENST00000261654.5 + 17 2366 c.1807C>T c.(1807-1809)Cac>Tac p.H603Y GPR133_ENST00000543617.1_Missense_Mutation_p.H122Y|GPR133_ENST00000376682.4_Missense_Mutation_p.H289Y|GPR133_ENST00000535015.1_Missense_Mutation_p.H635Y NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 603 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCAGCGCTACCACATCCACGC 0.687000 3 19 0 0 0.029380 0 0 PPP1R8 5511 broad.mit.edu 37 1 28176643 28176643 + Missense_Mutation SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:28176643G>A ENST00000373931.4 + 7 1111 c.316G>A c.(316-318)Gaa>Aaa p.E106K PPP1R8_ENST00000311772.5_Missense_Mutation_p.E248K|PPP1R8_ENST00000236412.7_Missense_Mutation_p.E24K|PPP1R8_ENST00000486634.1_3'UTR NM_138558.2 NP_612568.1 Q12972 PP1R8_HUMAN protein phosphatase 1, regulatory subunit 8 248 Interaction with CDC5L, SF3B1 and MELK. mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent cytoplasm|nuclear speck|spliceosomal complex DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) GGGCCTGGAGGAATCAGGGAG 0.607000 8 134 0 0 0.058154 0 0 CLMN 79789 broad.mit.edu 37 14 95669555 95669555 + Missense_Mutation SNP T T G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr14:95669555T>G ENST00000298912.4 - 9 2244 c.2131A>C c.(2131-2133)Aag>Cag p.K711Q NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 711 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) GGGGAGGGCTTGAAATCCAGG 0.557000 3 77 0 0 0.004672 0 0 ZNF426 79088 broad.mit.edu 37 19 9639593 9639593 + Silent SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr19:9639593G>A ENST00000593003.1 - 6 1491 c.1014C>T c.(1012-1014)tcC>tcT p.S338S ZNF426_ENST00000535489.1_Silent_p.S376S|ZNF426_ENST00000253115.2_Silent_p.S376S Q9BUY5 ZN426_HUMAN zinc finger protein 426 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 TAAGGCGTGAGGATGTAAGGA 0.438000 3 70 0 0 0.009096 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984614 140984614 + Nonsense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:140984614C>A ENST00000544766.1 + 5 703 c.176C>A c.(175-177)tCa>tAa p.S59* MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.S59*|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.S59* NM_177456.2 NP_803251.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 588 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) tccttgtcctcatcctcACCC 0.522000 3 23 0.00909568 0.0100416 0.009096 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885169 88885169 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:88885169C>A ENST00000319675.3 - 1 1127 c.1031G>T c.(1030-1032)cGt>cTt p.R344L NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 344 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GTGGCCATGACGGAGGCTCCA 0.602000 5 25 5.9392e-07 7.95737e-07 0.021553 1 0 ATRX 546 broad.mit.edu 37 X 76938364 76938364 + Missense_Mutation SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:76938364C>T ENST00000373344.5 - 9 2598 c.2384G>A c.(2383-2385)gGc>gAc p.G795D ATRX_ENST00000395603.3_Missense_Mutation_p.G757D|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 795 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGCTGATTTGCCCTTTTTAGT 0.343000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 4 123 0 0 0.014758 0 0 OR5M9 390162 broad.mit.edu 37 11 56230509 56230509 + Silent SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:56230509G>T ENST00000279791.1 - 1 368 c.369C>A c.(367-369)gcC>gcA p.A123A NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) GGTTGCAGCCGGCCATGTACC 0.483000 6 106 1.06961e-07 1.49098e-07 0.038147 1 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011808 46011808 + Nonsense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr21:46011808G>T ENST00000400368.1 - 1 578 c.558C>A c.(556-558)tgC>tgA p.C186* TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 186 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 CCGCCTGGCAGCAGGGGCTGG 0.637000 14 202 2.35188e-11 3.48989e-11 0.038395 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74507046 74507046 + Missense_Mutation SNP A A T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:74507046A>T ENST00000354431.4 - 7 1760 c.1569T>A c.(1567-1569)aaT>aaA p.N523K LRRIQ3_ENST00000395089.1_Missense_Mutation_p.N523K NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 523 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 GAGTGCGCTCATTATTTAAGT 0.358000 5 226 0 0 0.029380 0 0 DDI1 414301 broad.mit.edu 37 11 103908104 103908104 + Missense_Mutation SNP A A G rs140364909 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:103908104A>G ENST00000302259.3 + 1 797 c.554A>G c.(553-555)gAg>gGg p.E185G PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 185 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GTGCTGATGGAGCAGCAAAGG 0.562000 5 73 0 0 0.029380 0 0 CBX5 23468 broad.mit.edu 37 12 54635557 54635557 + Missense_Mutation SNP T T A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:54635557T>A ENST00000209875.4 - 5 694 c.558A>T c.(556-558)aaA>aaT p.K186N CBX5_ENST00000550411.1_Missense_Mutation_p.K186N|CBX5_ENST00000439541.2_Missense_Mutation_p.K186N NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 186 blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 TTGCTGTTTCTTTCTCTTTGT 0.423000 6 140 0 0 0.029380 0 0 CBX5 23468 broad.mit.edu 37 12 54635558 54635558 + Missense_Mutation SNP T T A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:54635558T>A ENST00000209875.4 - 5 693 c.557A>T c.(556-558)aAa>aTa p.K186I CBX5_ENST00000550411.1_Missense_Mutation_p.K186I|CBX5_ENST00000439541.2_Missense_Mutation_p.K186I NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 186 blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 TGCTGTTTCTTTCTCTTTGTT 0.423000 6 141 0 0 0.029380 0 0 SLC39A12 221074 broad.mit.edu 37 10 18270285 18270285 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr10:18270285G>T ENST00000377369.2 + 6 1242 c.969G>T c.(967-969)aaG>aaT p.K323N SLC39A12_ENST00000539911.1_Missense_Mutation_p.K189N|SLC39A12_ENST00000377374.4_Missense_Mutation_p.K323N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.K323N NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 323 zinc ion transport integral to membrane metal ion transmembrane transporter activity p.K323N(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TTCTACAGAAGGGCCTCTCAC 0.453000 6 58 0.0293803 0.0309503 0.029380 1 0 NPAP1 23742 broad.mit.edu 37 15 24923774 24923774 + Silent SNP A A C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:24923774A>C ENST00000329468.2 + 1 3234 c.2760A>C c.(2758-2760)gcA>gcC p.A920A NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGAATCCAGCAACCCCAGCAC 0.478000 4 64 0 0 0.014758 0 0 LOC645752 645752 broad.mit.edu 37 15 78213945 78213945 + RNA SNP T T C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:78213945T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTTTTCCAATGTGAGGATGT 0.478000 5 39 0 0 0.038147 0 0 IGKV1D-12 28903 broad.mit.edu 37 2 90198975 90198975 + RNA SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:90198975C>A ENST00000390276.2 + 0 317 CATCACTTGTCGGGCGAGTCA 0.498000 15 258 1.33834e-09 1.92386e-09 0.043863 1 0 SLC6A11 6538 broad.mit.edu 37 3 10967754 10967754 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:10967754G>T ENST00000254488.2 + 9 1251 c.1185G>T c.(1183-1185)tgG>tgT p.W395C NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 395 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CCCCGCTGTGGGCCACCTTGT 0.647000 39 513 1.68508e-10 2.47385e-10 0.111260 1 0 UBE2E3 10477 broad.mit.edu 37 2 181927579 181927579 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:181927579G>T ENST00000410062.4 + 6 981 c.588G>T c.(586-588)agG>agT p.R196S UBE2E3_ENST00000392415.2_Missense_Mutation_p.R196S|UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000602710.1_Missense_Mutation_p.R196S|UBE2E3_ENST00000602959.1_Missense_Mutation_p.R196S NM_006357.2 NP_006348.1 Q969T4 UB2E3_HUMAN ubiquitin-conjugating enzyme E2E 3 196 protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth cytoplasm|nucleolus ATP binding|protein binding|ubiquitin-protein ligase activity breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1) 11 AACACGACAGGATAGCCAGAC 0.433000 6 102 2.7689e-08 3.89906e-08 0.029380 1 0 BBS2 583 broad.mit.edu 37 16 56544822 56544822 + Silent SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr16:56544822G>A ENST00000245157.5 - 4 903 c.483C>T c.(481-483)gaC>gaT p.D161D BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Silent_p.D161D NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 161 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 AATTAACATTGTCTCCAGTAA 0.393000 Bardet-Biedl syndrome 8 86 0 0 0.047766 0 0 XIRP2 129446 broad.mit.edu 37 2 168108168 168108168 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:168108168G>T ENST00000409195.1 + 9 10355 c.10266G>T c.(10264-10266)atG>atT p.M3422I XIRP2_ENST00000295237.9_Missense_Mutation_p.M3422I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M3200I|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3247 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCTCAGGCATGGATGCATTTG 0.448000 7 145 0.0293803 0.0309503 0.029380 1 0 MIR4485 100616263 broad.mit.edu 37 MT 2345 2345 + RNA SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrM:2345G>A ENST00000387347.2 + 0 675 NR_039705.1 GCATAAGCCTGCGTCAGATCA 0.403000 173 344 0 0 0.048971 0 0 ODF3L1 161753 broad.mit.edu 37 15 76019833 76019833 + Missense_Mutation SNP C C G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:76019833C>G ENST00000332145.2 + 4 1000 c.777C>G c.(775-777)atC>atG p.I259M NM_175881.3 NP_787077.1 Q8IXM7 OD3L1_HUMAN outer dense fiber of sperm tails 3-like 1 259 kidney(1)|lung(1) 2 CCATGGGCATCAAGCACTCAC 0.602000 3 38 0 0 0.004672 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119527 38119527 + Missense_Mutation SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr22:38119527G>A ENST00000406386.3 + 7 1219 c.964G>A c.(964-966)Gcc>Acc p.A322T RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 322 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CACCCCTAGGGCCTCATCCAC 0.607000 17 180 0 0 0.038395 0 0 GRIK1 2897 broad.mit.edu 37 21 31023467 31023467 + Missense_Mutation SNP C C G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr21:31023467C>G ENST00000399914.1 - 6 1446 c.925G>C c.(925-927)Gag>Cag p.E309Q GRIK1_ENST00000399909.1_Missense_Mutation_p.E309Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.E309Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.E309Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E309Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.E309Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E309Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.E309Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.E309Q P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 309 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity p.E309K(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) AGGCCAGTCTCGGGCCTGGGT 0.463000 3 52 0 0 0.014758 0 0 ALAS1 211 broad.mit.edu 37 3 52246273 52246273 + Splice_Site SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:52246273G>A ENST00000394965.2 + 11 1959 c.e11-1 ALAS1_ENST00000469224.1_Splice_Site|ALAS1_ENST00000484952.1_Splice_Site|ALAS1_ENST00000310271.2_Splice_Site NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) ATTGAACTTAGGTTGCAGATG 0.488000 10 384 0 0 0.058154 0 0 OR14C36 127066 broad.mit.edu 37 1 248512229 248512229 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:248512229C>A ENST00000317861.1 + 1 153 c.153C>A c.(151-153)agC>agA p.S51R NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CCTGTGACAGCAGCCTTCACA 0.438000 6 237 3.59834e-05 4.55569e-05 0.021553 1 0 WDR75 84128 broad.mit.edu 37 2 190339976 190339976 + Missense_Mutation SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:190339976G>A ENST00000314761.4 + 21 2386 c.2326G>A c.(2326-2328)Gaa>Aaa p.E776K NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 776 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TATGGAAGAAGAAAAAGAAAG 0.294000 4 61 0 0 0.009096 0 0 VPS41 27072 broad.mit.edu 37 7 38816338 38816338 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:38816338C>A ENST00000310301.4 - 11 877 c.823G>T c.(823-825)Gca>Tca p.A275S VPS41_ENST00000395969.2_Missense_Mutation_p.A250S|VPS41_ENST00000466017.1_5'UTR NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 275 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 CAGAGAGGTGCAAGTCCACTG 0.428000 6 75 3.59834e-05 4.55569e-05 0.021553 1 0 ZNF563 147837 broad.mit.edu 37 19 12429722 12429722 + Missense_Mutation SNP T T C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr19:12429722T>C ENST00000293725.5 - 4 1322 c.1117A>G c.(1117-1119)Acg>Gcg p.T373A NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGAGATAACGTTTTCCCACAC 0.413000 4 147 0 0 0.014758 0 0 NUDT3 11165 broad.mit.edu 37 6 34261308 34261308 + Missense_Mutation SNP T T A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr6:34261308T>A ENST00000607016.1 - 4 571 c.260A>T c.(259-261)cAg>cTg p.Q87L RP1-187N21.4_ENST00000605528.1_Missense_Mutation_p.Q206L NM_006703.3 NP_006694.1 nudix (nucleoside diphosphate linked moiety X)-type motif 3 lung(2) 2 CTTCCTCTCCTGGTTCTGAAG 0.438000 6 72 0 0 0.021553 0 0 PABPC3 5042 broad.mit.edu 37 13 25671011 25671011 + Missense_Mutation SNP T T A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr13:25671011T>A ENST00000281589.3 + 1 712 c.675T>A c.(673-675)gaT>gaA p.D225E NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 225 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TAATGACCGATGAAAGTGGAA 0.413000 9 76 0 0 0.047766 0 0 CSMD3 114788 broad.mit.edu 37 8 113243797 113243797 + Missense_Mutation SNP C C G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:113243797C>G ENST00000297405.5 - 69 11049 c.10805G>C c.(10804-10806)gGa>gCa p.G3602A CSMD3_ENST00000352409.3_Missense_Mutation_p.G3532A|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3562A|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3433A NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3602 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 GCCAAATTGTCCATAATCTTT 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 226 0 0 0.021553 0 0 VWA3B 200403 broad.mit.edu 37 2 98744812 98744812 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:98744812C>A ENST00000477737.1 + 6 1017 c.813C>A c.(811-813)aaC>aaA p.N271K VWA3B_ENST00000451075.2_Missense_Mutation_p.N121K|VWA3B_ENST00000435344.1_Missense_Mutation_p.N271K NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 271 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGTCCTTCAACGCCAGAGGAG 0.512000 7 185 5.18039e-06 6.80851e-06 0.038147 1 0 LINC01410 103352539 broad.mit.edu 37 9 66465977 66465977 + RNA SNP G G T rs4406532 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:66465977G>T ENST00000424345.1 + 0 610 TTGTATCCAGGTTCCAAGTTT 0.318000 3 19 6.4e-05 7.95676e-05 0.004672 1 0 LINC00854 100874261 broad.mit.edu 37 17 41381938 41381938 + RNA SNP C C G rs4986161 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr17:41381938C>G ENST00000433702.2 - 0 14 NR_047479.1 aagagctgatcttatgcaggg 0.552000 3 35 0 0 0.004672 0 0 PCDH12 51294 broad.mit.edu 37 5 141325368 141325368 + Silent SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:141325368G>A ENST00000231484.3 - 4 4343 c.3133C>T c.(3133-3135)Ctg>Ttg p.L1045L NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 1045 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGGGCCAGACCTGTGGGG 0.667000 3 22 0 0 0.004672 0 0 ABCE1 6059 broad.mit.edu 37 4 146031567 146031567 + Missense_Mutation SNP A A G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:146031567A>G ENST00000296577.4 + 7 1099 c.584A>G c.(583-585)aAg>aGg p.K195R ABCE1_ENST00000502803.1_Intron NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 195 ABC transporter 1. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) GATGAAACAAAGACACAGGCA 0.328000 7 96 0 0 0.029380 0 0 KCNA4 3739 broad.mit.edu 37 11 30033017 30033017 + Silent SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:30033017G>T ENST00000328224.6 - 2 2442 c.1209C>A c.(1207-1209)atC>atA p.I403I NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 403 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TGATGTTCATGATGTTTTTGA 0.483000 6 141 8.12818e-05 0.000100151 0.029380 1 0 DNAJB14 79982 broad.mit.edu 37 4 100822261 100822261 + Missense_Mutation SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:100822261C>T ENST00000442697.2 - 8 1218 c.1064G>A c.(1063-1065)cGa>cAa p.R355Q NM_001031723.2|NM_001278310.1 NP_001026893.1|NP_001265239.1 Q8TBM8 DJB14_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 14 355 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(123;4.59e-09) TGCCTTCCTTCGGAGTCGATC 0.348000 5 85 0 0 0.014758 0 0 OR4C46 119749 broad.mit.edu 37 11 51515647 51515647 + Silent SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:51515647G>T ENST00000328188.1 + 1 366 c.366G>T c.(364-366)gtG>gtT p.V122V NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 ACCACTATGTGGCCATCTGCA 0.488000 4 107 0.014758 0.0160362 0.014758 1 0 CDH12 1010 broad.mit.edu 37 5 21817099 21817099 + Missense_Mutation SNP G G C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:21817099G>C ENST00000382254.1 - 9 2043 c.957C>G c.(955-957)atC>atG p.I319M CDH12_ENST00000504376.2_Missense_Mutation_p.I319M|CDH12_ENST00000522262.1_Missense_Mutation_p.I279M|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 319 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CATCTGTGACGATGTCAAACA 0.348000 HNSCC(59;0.17) 4 166 0 0 0.021553 0 0 ADAM29 11086 broad.mit.edu 37 4 175897502 175897502 + Missense_Mutation SNP A A G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:175897502A>G ENST00000359240.3 + 5 1496 c.826A>G c.(826-828)Aac>Gac p.N276D ADAM29_ENST00000404450.4_Missense_Mutation_p.N276D|ADAM29_ENST00000514159.1_Missense_Mutation_p.N276D|ADAM29_ENST00000445694.1_Missense_Mutation_p.N276D NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 276 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GAAGTCGGAGAACATTACGCC 0.423000 12 124 0 0 0.080935 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149858030 149858030 + Missense_Mutation SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:149858030C>T ENST00000369155.2 - 1 202 c.161G>A c.(160-162)gGc>gAc p.G54D NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.G54D(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GGACGAGATGCCGGTGTCGGG 0.587000 6 263 0 0 0.021553 0 0 FAM104B 90736 broad.mit.edu 37 X 55172572 55172572 + Missense_Mutation SNP G G A rs111573608 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:55172572G>A ENST00000425133.2 - 3 334 c.296C>T c.(295-297)aCc>aTc p.T99I FAM104B_ENST00000477847.2_Missense_Mutation_p.T95I|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.T97I NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 0 endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 CTCCTTCAAGGTCTGGTTGAT 0.448000 4 60 0 0 0.080935 0 0 PRKG2 5593 broad.mit.edu 37 4 82074851 82074851 + Missense_Mutation SNP T T C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:82074851T>C ENST00000395578.1 - 7 1053 c.937A>G c.(937-939)Atc>Gtc p.I313V PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.I313V|PRKG2_ENST00000418486.2_Missense_Mutation_p.I313V|PRKG2_ENST00000545647.1_5'UTR Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 313 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 TCTCTAATGATGTAATCTCCT 0.358000 4 29 0 0 0.014758 0 0 MIR4485 100616263 broad.mit.edu 37 MT 2826 2826 + RNA SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrM:2826G>A ENST00000387347.2 + 0 1156 NR_039705.1 GGGGCGACCTCGGAGCAGAAC 0.433000 141 350 0 0 0.048971 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 4 204 0 0 0.038147 0 0 RTN1 6252 broad.mit.edu 37 14 60213133 60213133 + Missense_Mutation SNP G G C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr14:60213133G>C ENST00000267484.5 - 2 643 c.308C>G c.(307-309)tCg>tGg p.S103W NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 103 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity p.S103W(1) central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TGTGTAACACGATCCTTCCCC 0.458000 6 127 0 0 0.021553 0 0 C1orf101 257044 broad.mit.edu 37 1 244662310 244662310 + Missense_Mutation SNP A A T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:244662310A>T ENST00000366534.4 + 7 412 c.358A>T c.(358-360)Act>Tct p.T120S C1orf101_ENST00000366533.4_Missense_Mutation_p.T120S|C1orf101_ENST00000366531.3_Intron|C1orf101_ENST00000473875.1_Intron NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 120 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) CTAGCTTATCACTGTGTGGGC 0.328000 4 103 0 0 0.009096 0 0 DCX 1641 broad.mit.edu 37 X 110574146 110574146 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:110574146C>A ENST00000356915.2 - 5 994 c.932G>T c.(931-933)gGt>gTt p.G311V DCX_ENST00000338081.3_Splice_Site|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Splice_Site|DCX_ENST00000488120.1_Splice_Site|DCX_ENST00000356220.3_Missense_Mutation_p.G311V NM_001195553.1|NM_178152.2|NM_178153.2 NP_001182482.1|NP_835365.1|NP_835366.1 O43602 DCX_HUMAN doublecortin 391 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding p.G311V(1)|p.?(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TTGGTCGTTACCTGAGTCAGC 0.522000 34 295 7.11191e-15 1.10275e-14 0.054565 1 0 HTR1A 3350 broad.mit.edu 37 5 63256897 63256897 + Missense_Mutation SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:63256897C>T ENST00000323865.3 - 1 883 c.650G>A c.(649-651)cGc>cAc p.R217H RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 217 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCGGAATATGCGCCCATAGAG 0.587000 4 141 0 0 0.009096 0 0 KCND3 3752 broad.mit.edu 37 1 112524699 112524699 + Missense_Mutation SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:112524699G>A ENST00000369697.1 - 1 719 c.650C>T c.(649-651)cCg>cTg p.P217L KCND3_ENST00000302127.4_Missense_Mutation_p.P217L|KCND3_ENST00000315987.2_Missense_Mutation_p.P217L Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 217 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CTCCCCGCACGGCAGCTCCTT 0.642000 3 24 0 0 0.004672 0 0 MFAP3L 9848 broad.mit.edu 37 4 170913452 170913452 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:170913452G>T ENST00000361618.3 - 3 614 c.307C>A c.(307-309)Caa>Aaa p.Q103K MFAP3L_ENST00000393704.3_5'UTR|RP11-6E9.4_ENST00000508955.1_RNA NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 103 Ig-like C2-type. integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TCGTGCATTTGCCATTTTCCT 0.463000 9 63 3.86212e-05 4.8452e-05 0.069234 1 0 ZFHX4 79776 broad.mit.edu 37 8 77765686 77765686 + Missense_Mutation SNP T T A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:77765686T>A ENST00000521891.2 + 10 6977 c.6529T>A c.(6529-6531)Ttt>Att p.F2177I ZFHX4_ENST00000518282.1_Missense_Mutation_p.F2151I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F2132I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.F2132I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2132 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAAACACTGGTTTAGAAATAC 0.373000 HNSCC(33;0.089) 11 207 0 0 0.080935 0 0 MAN2A1 4124 broad.mit.edu 37 5 109117165 109117165 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:109117165G>T ENST00000261483.4 + 9 2495 c.1443G>T c.(1441-1443)aaG>aaT p.K481N NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 481 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) AGAGAGACAAGGGCCAATCGA 0.363000 3 43 0.004672 0.0053728 0.004672 1 0 TRBV10-1 28585 broad.mit.edu 37 7 142231699 142231699 + RNA SNP T T C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:142231699T>C ENST00000390364.3 - 0 285 TTTGTTAGTGTCGTGAACACC 0.502000 36 288 0 0 0.080422 0 0 TENM1 10178 broad.mit.edu 37 X 123680734 123680734 + Missense_Mutation SNP A A T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:123680734A>T ENST00000422452.2 - 15 2704 c.2641T>A c.(2641-2643)Ttt>Att p.F881I TENM1_ENST00000371130.3_Missense_Mutation_p.F881I NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTGCTGTCAAATGACACCTCA 0.378000 9 86 0 0 0.058154 0 0 OR5T2 219464 broad.mit.edu 37 11 56000092 56000092 + Silent SNP A A T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:56000092A>T ENST00000313264.4 - 1 645 c.570T>A c.(568-570)gcT>gcA p.A190A NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) GTAAAATGCCAGCAACATAGG 0.448000 7 159 0 0 0.069234 0 0 OR4N2 390429 broad.mit.edu 37 14 20296125 20296125 + Missense_Mutation SNP A A T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr14:20296125A>T ENST00000568211.1 + 1 518 c.518A>T c.(517-519)cAg>cTg p.Q173L OR4N2_ENST00000315947.1_Missense_Mutation_p.Q173L Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCCCAAACCAGCTGGACAAC 0.527000 7 504 0 0 0.029380 0 0 EPHB1 2047 broad.mit.edu 37 3 134898765 134898765 + Missense_Mutation SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:134898765G>A ENST00000398015.3 + 10 2193 c.1823G>A c.(1822-1824)cGg>cAg p.R608Q EPHB1_ENST00000493838.1_Missense_Mutation_p.R169Q NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 608 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GAAGCTGTCCGGGAGTTTGCC 0.488000 5 216 0 0 0.014758 0 0 DCLK3 85443 broad.mit.edu 37 3 36763132 36763132 + Missense_Mutation SNP T T G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:36763132T>G ENST00000416516.2 - 3 1961 c.1471A>C c.(1471-1473)Aaa>Caa p.K491Q DCLK3_ENST00000498047.1_5'UTR NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 491 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GTAGTAGATTTGTCCTCATTT 0.413000 10 102 0 0 0.069234 0 0 ATP1A2 477 broad.mit.edu 37 1 160105300 160105300 + Missense_Mutation SNP T T A rs28933400 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:160105300T>A ENST00000361216.3 + 16 2281 c.2192T>A c.(2191-2193)aTg>aAg p.M731K ATP1A2_ENST00000392233.3_Missense_Mutation_p.M731K|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 731 M -> T (in FHM2; dbSNP:rs28933400). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGCATTGCCATGGGCATCTCT 0.597000 6 109 0 0 0.029380 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963452 73963452 + Missense_Mutation SNP A A G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:73963452A>G ENST00000373468.1 - 3 1591 c.940T>C c.(940-942)Tat>Cat p.Y314H KIAA2022_ENST00000055682.5_Missense_Mutation_p.Y314H Q5QGS0 K2022_HUMAN KIAA2022 314 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AAGGATTCATATCGAATTTTC 0.418000 6 119 0 0 0.021553 0 0 STAT3 6774 broad.mit.edu 37 17 40475149 40475149 + Silent SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr17:40475149G>T ENST00000264657.5 - 20 2073 c.1761C>A c.(1759-1761)ggC>ggA p.G587G STAT3_ENST00000588969.1_Silent_p.G587G|STAT3_ENST00000585517.1_Silent_p.G587G|STAT3_ENST00000389272.3_Silent_p.G489G|STAT3_ENST00000404395.3_Silent_p.G587G NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 587 SH2. cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TACTGATAAAGCCCATGATGT 0.532000 Hyperimmunoglobulin E Recurrent Infection Syndrome OREG0024421 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 158 0.0293803 0.0309503 0.029380 1 0 C4orf6 10141 broad.mit.edu 37 4 5527967 5527967 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:5527967C>A ENST00000195455.2 + 2 366 c.191C>A c.(190-192)aCa>aAa p.T64K C4orf6_ENST00000515342.1_3'UTR NM_005750.2 NP_005741.1 Q99440 CD006_HUMAN chromosome 4 open reading frame 6 64 nervous system development large_intestine(1)|prostate(1) 2 GCAGATAAAACAGAGCCAGAA 0.438000 8 61 1.12685e-05 1.46703e-05 0.047766 1 0 PLK1 5347 broad.mit.edu 37 16 23695356 23695356 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr16:23695356G>T ENST00000300093.4 + 5 1093 c.982G>T c.(982-984)Gct>Tct p.A328S NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 328 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) GTTTTCGATTGCTCCCAGCAG 0.537000 7 203 3.09899e-07 4.19274e-07 0.047766 1 0 FAM182B 728882 broad.mit.edu 37 20 25848614 25848614 + Translation_Start_Site SNP C C A rs144456407 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr20:25848614C>A ENST00000376404.2 - 0 172 FAM182B_ENST00000478164.1_5'UTR lung(1) 1 ccgggcaggcctgaggctggg 0.667000 3 15 2.56e-06 3.39692e-06 0.009096 1 0 ATP7A 538 broad.mit.edu 37 X 77245190 77245190 + Missense_Mutation SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:77245190C>T ENST00000341514.6 + 4 1227 c.1072C>T c.(1072-1074)Ccc>Tcc p.P358S ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.P358S NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 358 Poly-Ser. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CTCAAACTCTCCCTCCAGCTC 0.433000 11 109 0 0 0.069234 0 0 NTM 50863 broad.mit.edu 37 11 132180083 132180083 + Missense_Mutation SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:132180083G>A ENST00000374786.1 + 5 1218 c.739G>A c.(739-741)Gca>Aca p.A247T NTM_ENST00000539799.1_Missense_Mutation_p.A247T|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Missense_Mutation_p.A238T|NTM_ENST00000425719.2_Missense_Mutation_p.A247T|NTM_ENST00000374791.3_Missense_Mutation_p.A247T|NTM_ENST00000374784.1_Missense_Mutation_p.A247T NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 247 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 TGAAGCCTCAGCAGTCCCCTC 0.493000 21 242 0 0 0.091800 0 0 FAM47A 158724 broad.mit.edu 37 X 34149595 34149595 + Silent SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:34149595C>T ENST00000346193.3 - 1 852 c.801G>A c.(799-801)ctG>ctA p.L267L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 267 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TCTCAGAATCCAGTTTCAGCA 0.587000 3 28 0 0 0.009096 0 0 MYO5A 4644 broad.mit.edu 37 15 52700338 52700338 + Splice_Site SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:52700338C>T ENST00000399231.3 - 7 1000 c.e7-1 MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CCTCTTCTGCCTTCGAAATAA 0.294000 6 79 0 0 0.021553 0 0 FOXO1 2308 broad.mit.edu 37 13 41134917 41134917 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr13:41134917C>A ENST00000379561.5 - 2 1095 c.711G>T c.(709-711)tgG>tgT p.W237C FOXO1_ENST00000473775.1_5'UTR NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 237 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) GATTGAGCATCCACCAAGAAC 0.453000 12 86 2.27111e-07 3.13413e-07 0.093190 1 0 PIKFYVE 200576 broad.mit.edu 37 2 209195290 209195290 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:209195290G>T ENST00000264380.4 + 23 3993 c.3835G>T c.(3835-3837)Gta>Tta p.V1279L NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1279 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TACCCCCATGGTACATCATAT 0.438000 18 394 3.5997e-14 5.45888e-14 0.069288 1 0 KCNA6 3742 broad.mit.edu 37 12 4919925 4919925 + Missense_Mutation SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:4919925C>T ENST00000433855.1 + 1 1584 c.718C>T c.(718-720)Cct>Tct p.P240S KCNA6_ENST00000280684.3_Missense_Mutation_p.P240S NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 240 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TGGCATCACCCCTGGGGAAAT 0.547000 HNSCC(72;0.22) 4 89 0 0 0.014758 0 0 BAGE2 85319 broad.mit.edu 37 21 11058330 11058330 + RNA SNP G G A rs138162498 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr21:11058330G>A 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) ATCGCTGAAAGGGGTAAAGGA 0.378000 9 227 0 0 0.058154 0 0 SLC6A6 6533 broad.mit.edu 37 3 14489271 14489271 + Silent SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:14489271C>A ENST00000454876.2 + 5 875 c.546C>A c.(544-546)gtC>gtA p.V182V SLC6A6_ENST00000360861.3_Silent_p.V182V|SLC6A6_ENST00000416216.2_Silent_p.V182V|SLC6A6_ENST00000484191.1_3'UTR P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 182 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 ACAAGAGTGTCTGGATCACCA 0.562000 6 49 0.0215528 0.0232366 0.021553 1 0 LINC01410 103352539 broad.mit.edu 37 9 66459884 66459884 + RNA SNP T T G rs139166660 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:66459884T>G ENST00000424345.1 + 0 144 tagtagatgttcttcagtgtc 0.368000 5 59 0 0 0.014758 0 0 OR2T34 127068 broad.mit.edu 37 1 248737464 248737464 + Missense_Mutation SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:248737464G>A ENST00000328782.2 - 1 616 c.595C>T c.(595-597)Ctc>Ttc p.L199F NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCTTATAGAGGGAGACGTCA 0.517000 9 961 0 0 0.058154 0 0 PCDH11X 27328 broad.mit.edu 37 X 91134023 91134023 + Silent SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:91134023C>T ENST00000373094.1 + 2 3629 c.2784C>T c.(2782-2784)ttC>ttT p.F928F PCDH11X_ENST00000373097.1_Silent_p.F928F|PCDH11X_ENST00000373088.1_Silent_p.F928F|PCDH11X_ENST00000298274.8_Silent_p.F928F|PCDH11X_ENST00000406881.1_Silent_p.F928F|PCDH11X_ENST00000361724.1_Silent_p.F928F|PCDH11X_ENST00000504220.1_Silent_p.F928F|PCDH11X_ENST00000395337.2_Silent_p.F928F|PCDH11X_ENST00000361655.2_Silent_p.F928F NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 928 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTACTACTTTCAAGCCCGACA 0.468000 5 75 0 0 0.021553 0 0 DNAH11 8701 broad.mit.edu 37 7 21723542 21723542 + Silent SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:21723542G>T ENST00000328843.6 + 33 5653 c.5622G>T c.(5620-5622)gtG>gtT p.V1874V DNAH11_ENST00000409508.3_Silent_p.V1867V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1874 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.V1874V(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTCGACTAGTGATCACTCCTC 0.423000 Kartagener syndrome 7 186 0.000274275 0.000332017 0.047766 1 0 USH2A 7399 broad.mit.edu 37 1 215847453 215847453 + Silent SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:215847453C>T ENST00000366943.2 - 63 14186 c.13800G>A c.(13798-13800)aaG>aaA p.K4600K USH2A_ENST00000307340.3_Silent_p.K4600K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4600 Fibronectin type-III 31. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTGAAATGGCTTCAGCTGGT 0.393000 HNSCC(13;0.011) 5 162 0 0 0.029380 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459846 66459846 + RNA SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:66459846G>T ENST00000424345.1 + 0 106 acttggtgaggtcatgttttc 0.363000 4 56 0.00116845 0.00136649 0.021553 1 0 OR5D14 219436 broad.mit.edu 37 11 55563896 55563896 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:55563896C>A ENST00000335605.1 + 1 865 c.865C>A c.(865-867)Cct>Act p.P289T NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) CATGCTGAACCCTCTGATCTA 0.418000 6 41 0.00198382 0.00230056 0.029380 1 0 OR5H14 403273 broad.mit.edu 37 3 97868848 97868848 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:97868848C>A ENST00000437310.1 + 1 679 c.619C>A c.(619-621)Caa>Aaa p.Q207K NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 AGGTTCAATTCAAGTTTTTAC 0.308000 4 46 0.00909568 0.0100416 0.009096 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803646 142803646 + RNA SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:142803646G>A ENST00000423385.1 - 0 1319 gttgtattctgggctagacat 0.299000 3 16 0 0 0.009096 0 0 PXDNL 137902 broad.mit.edu 37 8 52233429 52233429 + Missense_Mutation SNP T T A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:52233429T>A ENST00000356297.4 - 22 4275 c.4175A>T c.(4174-4176)cAg>cTg p.Q1392L RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_Silent_p.A1310A NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1392 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ACACCCTGCCTGCCTCAGGCG 0.502000 5 163 0 0 0.038147 0 0 MT-CYB 4519 broad.mit.edu 37 MT 14800 14800 + Missense_Mutation SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrM:14800C>T ENST00000361789.2 + 1 54 c.54C>T c.(52-54)ttC>ttT p.18_18insF mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 AACCACTCATTCATCGACCTC 0.438000 102 298 0 0 0.048971 0 0 LYSMD4 145748 broad.mit.edu 37 15 100271393 100271393 + Silent SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:100271393C>T ENST00000344791.2 - 5 542 c.270G>A c.(268-270)gtG>gtA p.V90V LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000332728.4_Intron|LYSMD4_ENST00000409796.1_Intron|LYSMD4_ENST00000604213.1_Intron NM_152449.2 NP_689662.2 Q5XG99 LYSM4_HUMAN LysM, putative peptidoglycan-binding, domain containing 4 256 cell wall macromolecule catabolic process integral to membrane breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1) 10 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208) CATTGTTAATCACTCTGAATG 0.343000 3 46 0 0 0.009096 0 0 POTEF 728378 broad.mit.edu 37 2 130832776 130832776 + Missense_Mutation SNP C C T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:130832776C>T ENST00000357462.5 - 15 2362 c.2269G>A c.(2269-2271)Gag>Aag p.E757K POTEF_ENST00000409914.2_Missense_Mutation_p.E757K A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 757 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 CTCTGGGCCTCCTTGCCCACA 0.597000 4 56 0 0 0.029380 0 0 PDGFRL 5157 broad.mit.edu 37 8 17447268 17447268 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:17447268G>T ENST00000541323.1 + 3 792 c.347G>T c.(346-348)cGc>cTc p.R116L PDGFRL_ENST00000251630.6_Missense_Mutation_p.R116L|PDGFRL_ENST00000398074.3_Missense_Mutation_p.R116L NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 116 Ig-like C2-type 1. extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) AAGGATTCTCGCCTCAGGTAA 0.413000 5 111 0.000602214 0.000716427 0.014758 1 0 RYR2 6262 broad.mit.edu 37 1 237806708 237806708 + Missense_Mutation SNP G G C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:237806708G>C ENST00000366574.2 + 48 7620 c.7303G>C c.(7303-7305)Gtt>Ctt p.V2435L RYR2_ENST00000360064.6_Missense_Mutation_p.V2433L|RYR2_ENST00000542537.1_Missense_Mutation_p.V2419L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2435 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTGGTGGGCGTTATCAGCAT 0.433000 8 129 0 0 0.038147 0 0 TRIM2 23321 broad.mit.edu 37 4 154191516 154191516 + Silent SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:154191516C>A ENST00000338700.5 + 2 125 c.60C>A c.(58-60)ggC>ggA p.G20G TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_5'UTR NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 0 cytoplasm zinc ion binding p.G20G(7) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) AGACAGCCGGCCCCCCATGTC 0.488000 7 69 3.09899e-07 4.19274e-07 0.047766 1 0 DCX 1641 broad.mit.edu 37 X 110574147 110574147 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:110574147C>A ENST00000356915.2 - 5 993 c.931G>T c.(931-933)Ggt>Tgt p.G311C DCX_ENST00000338081.3_Splice_Site_p.A392_splice|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Splice_Site_p.A311_splice|DCX_ENST00000488120.1_Splice_Site_p.A311_splice|DCX_ENST00000356220.3_Missense_Mutation_p.G311C NM_001195553.1|NM_178152.2|NM_178153.2 NP_001182482.1|NP_835365.1|NP_835366.1 O43602 DCX_HUMAN doublecortin 391 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding p.G311S(1)|p.A392T(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TGGTCGTTACCTGAGTCAGCT 0.527000 31 299 2.61193e-14 4.00496e-14 0.041601 1 0 LINC01410 103352539 broad.mit.edu 37 9 66458146 66458146 + RNA SNP C C T rs148666006 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:66458146C>T ENST00000424345.1 + 0 67 RNA5SP283_ENST00000365604.1_RNA AAGCCAaaagcctacggtacc 0.627000 3 28 0 0 0.009096 0 0 TSNARE1 203062 broad.mit.edu 37 8 143396366 143396366 + Nonsense_Mutation SNP T T A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:143396366T>A ENST00000519651.1 - 6 515 c.412A>T c.(412-414)Aag>Tag p.K138* TSNARE1_ENST00000520166.1_Nonsense_Mutation_p.K357*|TSNARE1_ENST00000307180.3_Nonsense_Mutation_p.K358*|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000524325.1_Nonsense_Mutation_p.K357* Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 358 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CACCTCACCTTCTGCACCACT 0.637000 4 67 0 0 0.014758 0 0 PSG2 5670 broad.mit.edu 37 19 43585224 43585224 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr19:43585224G>T ENST00000406487.1 - 2 337 c.239C>A c.(238-240)aCa>aAa p.T80K NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 80 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TACATATGATGTAATGTAATG 0.433000 4 315 0.000602214 0.000716427 0.014758 1 0 SERPINA9 327657 broad.mit.edu 37 14 94936018 94936018 + Missense_Mutation SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr14:94936018G>A ENST00000337425.5 - 2 288 c.214C>T c.(214-216)Cgc>Tgc p.R72C SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R72C|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.R54C|SERPINA9_ENST00000448305.2_Intron NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 54 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) CGGTATAGGCGGAAGGCAAAG 0.602000 4 259 0 0 0.009096 0 0 RNASEL 6041 broad.mit.edu 37 1 182544630 182544630 + Missense_Mutation SNP T T A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:182544630T>A ENST00000367559.3 - 7 2376 c.2123A>T c.(2122-2124)cAg>cTg p.Q708L RNASEL_ENST00000444138.1_Missense_Mutation_p.Q708L NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 708 KEN. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TTCTGTGTTCTGTAGTTTTGT 0.448000 3 59 0 0 0.009096 0 0 ZNF92 168374 broad.mit.edu 37 7 64864055 64864055 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:64864055G>T ENST00000328747.7 + 4 1227 c.1028G>T c.(1027-1029)tGt>tTt p.C343F ZNF92_ENST00000450302.2_Missense_Mutation_p.C274F|ZNF92_ENST00000357512.2_Missense_Mutation_p.C311F|ZNF92_ENST00000431504.1_Missense_Mutation_p.C267F NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 343 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) CCATACAAATGTGAAGAATGT 0.343000 4 67 0.00909568 0.0100416 0.009096 1 0 NCOA5 57727 broad.mit.edu 37 20 44691230 44691230 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr20:44691230C>A ENST00000290231.6 - 8 1613 c.1449G>T c.(1447-1449)caG>caT p.Q483H NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 483 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TGCTTGGAGGCTGATTGCCAG 0.572000 4 118 0.00909568 0.0100416 0.009096 1 0 OR4D6 219983 broad.mit.edu 37 11 59224942 59224942 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:59224942G>T ENST00000300127.2 + 1 532 c.509G>T c.(508-510)gGc>gTc p.G170V NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 CCCTTCTGTGGCCCCAACACA 0.498000 11 122 2.80697e-09 3.99343e-09 0.080935 1 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 4 203 0 0 0.029380 0 0 TP53 7157 broad.mit.edu 37 17 7578469 7578469 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr17:7578469C>A ENST00000420246.2 - 5 593 c.461G>T c.(460-462)gGc>gTc p.G154V TP53_ENST00000445888.2_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000359597.4_Missense_Mutation_p.G154V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 154 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GACGCGGGTGCCGGGCGGGGG 0.607000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 78 0.014758 0.0160362 0.014758 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125555845 125555845 + Silent SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:125555845C>A ENST00000431078.1 + 19 3526 c.3162C>A c.(3160-3162)ctC>ctA p.L1054L NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1054 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GTCTTTTGCTCTTTATCAATT 0.473000 6 103 2.74318e-10 3.98483e-10 0.058154 1 0 KDM4A 9682 broad.mit.edu 37 1 44156564 44156565 + Frame_Shift_Ins INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:44156564_44156565insC ENST00000372396.3 + 14 2220_2221 c.2086_2087insC c.(2086-2088)cccfs p.P696fs NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 696 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 TTCAGATTTAGCCCCCCAGAAG 0.470 10 280 --- --- --- --- ZRANB2-AS2 100852410 broad.mit.edu 37 1 71581641 71581641 + RNA DEL A A - rs78212186 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:71581641delA ENST00000455406.1 + 0 131 ZRANB2-AS2_ENST00000415780.1_RNA|ZRANB2-AS2_ENST00000596952.1_RNA NR_046217.1 tctaaaaaagaaaaaaaaaaa 0.373 2 4 --- --- --- --- LOC101927587 101927587 broad.mit.edu 37 1 84247695 84247696 + RNA INS - - G rs78417642 byFrequency TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:84247695_84247696insG ENST00000417975.1 - 0 178 ggatttttactggggggctagt 0.406 3 5 --- --- --- --- LOC101927587 101927587 broad.mit.edu 37 1 84290173 84290174 + RNA INS - - T rs34094074 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:84290173_84290174insT ENST00000417975.1 - 0 178 cttcctttttcttttttttttt 0.332 2 4 --- --- --- --- LOC101928270 101928270 broad.mit.edu 37 1 99971244 99971244 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:99971244delA ENST00000438829.2 - 0 23 gaagaggtggaaaaagacatt 0.274 2 4 --- --- --- --- SLC25A24P1 727941 broad.mit.edu 37 1 108867161 108867164 + RNA DEL AGTG AGTG - rs112222462 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:108867161_108867164delAGTG ENST00000411846.1 + 0 491 tggacaacatagtgagacccctcc 0.515 4 7 --- --- --- --- RP11-417J8.2 0 broad.mit.edu 37 1 142572757 142572758 + RNA INS - - C rs78821059 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:142572757_142572758insC ENST00000415979.2 - 0 215 ACTATTCTTTTCCGttttttaa 0.361 3 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142640292 142640292 + RNA DEL A A - rs150924664 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:142640292delA ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA gtgtctgcatagcatattttt 0.368 2 4 --- --- --- --- SRGAP2B 647135 broad.mit.edu 37 1 143998886 143998887 + RNA INS - - T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:143998886_143998887insT ENST00000467933.1 + 0 915 tgttcctgtggtttttgttttg 0.416 2 4 --- --- --- --- SRGAP2B 647135 broad.mit.edu 37 1 144007216 144007217 + RNA INS - - A rs113349318 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:144007216_144007217insA ENST00000467933.1 + 0 915 catgcaccacccccccagctaa 0.540 3 4 --- --- --- --- NBPF18P 441908 broad.mit.edu 37 1 151999540 151999540 + RNA DEL T T - rs111736581 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:151999540delT ENST00000432386.1 + 0 2919 NR_103561.1 tctcttgttatttatcttatc 0.423 3 3 --- --- --- --- PYGO2 90780 broad.mit.edu 37 1 154932096 154932097 + Frame_Shift_Ins INS - - G rs141564510 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:154932096_154932097insG ENST00000368457.2 - 3 550_551 c.379_380insC c.(379-381)gccfs p.A127fs PYGO2_ENST00000368456.1_Frame_Shift_Ins_p.A90fs NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 127 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACGGAGTGGCTGGGGGCCCCCT 0.673 3 3 --- --- --- --- LOC646268 646268 broad.mit.edu 37 1 158104146 158104147 + RNA INS - - T rs143635161 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:158104146_158104147insT ENST00000414848.1 - 0 142 NR_033946.1 cttatctttccttttttttttt 0.297 4 2 --- --- --- --- RP11-479J7.1 0 broad.mit.edu 37 1 166370057 166370058 + RNA INS - - T rs149001094 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:166370057_166370058insT ENST00000448643.1 - 0 176 atggatcaggctttttgtcata 0.267 5 4 --- --- --- --- LINC00970 101978719 broad.mit.edu 37 1 168951018 168951019 + RNA INS - - A rs71810449 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:168951018_168951019insA ENST00000366408.3 - 0 209 tcatctcaaagaaaaaaaaaaa 0.446 4 6 --- --- --- --- RP1-45C12.1 0 broad.mit.edu 37 1 171214864 171214864 + RNA DEL C C - rs138208493 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:171214864delC ENST00000455124.1 - 0 415 cagaatatttcctaaagagca 0.453 2 4 --- --- --- --- LOC102724661 102724661 broad.mit.edu 37 1 177321265 177321266 + RNA DEL GT GT - rs72557419 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:177321265_177321266delGT ENST00000451341.1 + 0 65 gtgtgacagagtgtgtgtgtgt 0.495 4 9 --- --- --- --- LINC01036 104169671 broad.mit.edu 37 1 187145614 187145615 + RNA INS - - A rs1924751 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:187145614_187145615insA ENST00000458683.1 + 0 105 ttctattctctgtttttttttt 0.262 2 4 --- --- --- --- LINC01036 104169671 broad.mit.edu 37 1 187229785 187229785 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:187229785delA ENST00000458683.1 + 0 105 AGAATTCCCTAAAAAAATGGA 0.378 2 4 --- --- --- --- RP4-781K5.6 0 broad.mit.edu 37 1 234826368 234826369 + RNA INS - - A rs78348727 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr1:234826368_234826369insA ENST00000442382.1 - 0 96 gactctgtctcaaaaaaaaaaa 0.396 2 4 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 3050117 3050117 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:3050117delA ENST00000457478.1 - 0 438 gtggtgtgtgatgtgtggtgt 0.428 3 3 --- --- --- --- LINC01248 102723818 broad.mit.edu 37 2 5812807 5812808 + RNA INS - - C rs147629174 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:5812807_5812808insC ENST00000453678.1 - 0 258 AC107057.2_ENST00000458264.1_RNA AGAAGGTAGTGCCCCCCCTTTT 0.515 3 3 --- --- --- --- LINC00299 339789 broad.mit.edu 37 2 8441369 8441369 + RNA DEL G G - rs35181863 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:8441369delG ENST00000442956.1 - 0 453 actctcaccagtgcattcctt 0.522 3 4 --- --- --- --- LINC00276 100499171 broad.mit.edu 37 2 14411348 14411349 + RNA INS - - A rs144603529 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:14411348_14411349insA ENST00000418420.1 - 0 251 NR_103814.1 tgtctcaaaagaaaaaaaaaaT 0.386 3 3 --- --- --- --- LINC00276 100499171 broad.mit.edu 37 2 14489935 14489936 + RNA INS - - AAAC rs147558988 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:14489935_14489936insAAAC ENST00000418420.1 - 0 116 NR_103814.1 ctcctcctcaaaaacaaacaaa 0.441 4 2 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22378672 22378673 + RNA DEL AC AC - rs72140821 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:22378672_22378673delAC ENST00000450551.1 - 0 200 acacacacatacacacacacac 0.282 2 4 --- --- --- --- LOC101929418 101929418 broad.mit.edu 37 2 30308682 30308682 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:30308682delT ENST00000453606.1 - 0 109 gtccagctgattttttttgta 0.552 2 4 --- --- --- --- LINC01317 104355287 broad.mit.edu 37 2 34004062 34004063 + RNA INS - - T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:34004062_34004063insT ENST00000366209.2 + 0 68 ATTCCTTACCCTTTTTTTTCAT 0.272 2 4 --- --- --- --- AC073218.1 0 broad.mit.edu 37 2 34637895 34637896 + RNA DEL GT GT - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:34637895_34637896delGT ENST00000422558.1 + 0 475 AAGAAATGAAgtgtgtgtgtgt 0.356 2 4 --- --- --- --- AC012593.1 0 broad.mit.edu 37 2 35135721 35135721 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:35135721delA ENST00000588944.1 + 0 115 ATGATTTGGGAAAAAAAATAG 0.358 2 4 --- --- --- --- AC006369.3 0 broad.mit.edu 37 2 37972967 37972967 + RNA DEL T T - rs68078473 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:37972967delT ENST00000431712.1 + 0 311 TACTATAGACTTTTTTTTTCT 0.353 5 5 --- --- --- --- RP11-482H16.1 0 broad.mit.edu 37 2 56396340 56396340 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:56396340delA ENST00000607540.1 + 0 111 RP11-481J13.1_ENST00000606639.1_lincRNA tgactagaacaaaaaaaggca 0.423 2 4 --- --- --- --- AC007386.4 0 broad.mit.edu 37 2 65268598 65268598 + RNA DEL A A - rs112509531 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:65268598delA ENST00000430134.1 - 0 638 actctgtctcaaaaaaaaaaa 0.458 3 3 --- --- --- --- AC092620.2 0 broad.mit.edu 37 2 139331586 139331587 + RNA INS - - G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:139331586_139331587insG ENST00000458007.2 + 0 302_303 TTGCTGCTTTTGGGGGGGTGTT 0.436 2 4 --- --- --- --- TEX41 401014 broad.mit.edu 37 2 145746571 145746576 + RNA DEL GAGAGA GAGAGA - rs72145404 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:145746571_145746576delGAGAGA ENST00000445791.1 + 0 307 NR_033870.2 gtgtgtgtgtgAGAGAGAGAGAGAGA 0.437 3 5 --- --- --- --- LOC101929231 101929231 broad.mit.edu 37 2 150486755 150486758 + RNA DEL TTTG TTTG - rs70994583 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:150486755_150486758delTTTG ENST00000449714.1 + 0 655 TTGTCAGTTTTTtgtatgtgtgtg 0.373 5 5 --- --- --- --- LOC101929231 101929231 broad.mit.edu 37 2 150549114 150549115 + RNA INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:150549114_150549115insC ENST00000449714.1 + 0 655 GCTGCTCAAGGCCCCCTTCCTT 0.510 2 4 --- --- --- --- AC018731.3 0 broad.mit.edu 37 2 151991118 151991119 + RNA INS - - AG rs145602382 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:151991118_151991119insAG ENST00000447078.1 - 0 156 atcagaaaaaaagcatgaaaac 0.307 3 6 --- --- --- --- AC009313.1 0 broad.mit.edu 37 2 161966307 161966308 + RNA INS - - AC rs58541006 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:161966307_161966308insAC ENST00000425470.1 - 0 165 tatatacaaatacacacacacg 0.396 5 2 --- --- --- --- AC096649.3 0 broad.mit.edu 37 2 176227927 176227927 + RNA DEL C C - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:176227927delC ENST00000438963.1 + 0 247 CCATTCAGCACCTAGAGCTTT 0.348 2 4 --- --- --- --- AC019330.1 0 broad.mit.edu 37 2 199568366 199568368 + RNA DEL AGT AGT - rs66474122 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:199568366_199568368delAGT ENST00000440609.1 - 0 98 tcacagagggagtagtaacactt 0.478 8 7 --- --- --- --- AC018717.1 0 broad.mit.edu 37 2 199901857 199901857 + RNA DEL A A - rs5837662 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:199901857delA ENST00000456031.1 - 0 114 AACAAGACATAAAAAAAAAAA 0.279 2 4 --- --- --- --- LINC00607 646324 broad.mit.edu 37 2 216522760 216522778 + RNA DEL TCTTGCCTACCTAACATGG TCTTGCCTACCTAACATGG - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr2:216522760_216522778delTCTTGCCTACCTAACATGG ENST00000445174.1 - 0 723 AC012668.2_ENST00000417485.2_lincRNA NR_037195.1 GAGTCTTTCCTCTTGCCTACCTAACATGGTCATCAGGGT 0.429 3 5 --- --- --- --- GRM7-AS3 101927347 broad.mit.edu 37 3 6751821 6751822 + RNA INS - - AT rs146390960 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:6751821_6751822insAT ENST00000433639.1 + 0 194 AGAAATATCCCATATATATAtg 0.322 4 2 --- --- --- --- HMGB1P5 10354 broad.mit.edu 37 3 22424406 22424406 + RNA DEL A A - rs35347330 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:22424406delA ENST00000451497.1 + 0 971 tttttttattaaaaaaaaaaa 0.353 3 4 --- --- --- --- LINC00693 645206 broad.mit.edu 37 3 28793408 28793408 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:28793408delA ENST00000432518.2 + 0 809 LINC00693_ENST00000445077.1_RNA|LINC00693_ENST00000443912.1_RNA NR_038840.1 gaaatacaacaaaaaaataga 0.353 2 4 --- --- --- --- LOC102724297 102724297 broad.mit.edu 37 3 46439697 46439697 + RNA DEL C C - rs77949449 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:46439697delC ENST00000451485.1 - 0 163 gaccccaaaacccaggcgcgg 0.458 6 6 --- --- --- --- RP11-260O18.1 0 broad.mit.edu 37 3 82292115 82292115 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:82292115delT ENST00000470263.1 + 0 472 ttatgcaagattttttttttt 0.408 2 4 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84766701 84766701 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:84766701delA ENST00000484892.1 - 0 1846 NR_033860.1 tctcgaaaagaaaaaaaaaaa 0.408 3 4 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98125078 98125079 + RNA INS - - C rs34478586 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:98125078_98125079insC ENST00000508616.1 + 0 188 tgaaactatcatatttgcagac 0.361 3 3 --- --- --- --- AADACL2-AS1 101928142 broad.mit.edu 37 3 151522735 151522735 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:151522735delT ENST00000483843.2 - 0 439 RP11-64D22.5_ENST00000485020.1_lincRNA|RP11-454C18.2_ENST00000475855.1_RNA GTAGCTAGTATTTTTTTTTTC 0.338 3 6 --- --- --- --- RP11-23D24.2 0 broad.mit.edu 37 3 153551152 153551153 + RNA DEL AC AC - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr3:153551152_153551153delAC ENST00000488210.1 - 0 477 acacacgcaaacacacacacac 0.426 3 5 --- --- --- --- LINC00504 201853 broad.mit.edu 37 4 14479849 14479850 + RNA INS - - GTAA rs138929887 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:14479849_14479850insGTAA ENST00000505089.1 - 0 461 gccaaaaatctgtaagtctgct 0.505 5 5 --- --- --- --- RP11-17E2.2 0 broad.mit.edu 37 4 22306841 22306841 + RNA DEL C C - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:22306841delC ENST00000510705.3 + 0 859 TGGTTTCAATCTTTTATTTGT 0.254 3 3 --- --- --- --- GBA3 57733 broad.mit.edu 37 4 22754271 22754271 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:22754271delA ENST00000511446.1 + 0 1210 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGAATATGAGAAAAAAAAAAG 0.308 2 4 --- --- --- --- RP11-123O22.1 0 broad.mit.edu 37 4 28522620 28522621 + RNA INS - - C rs5857087 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:28522620_28522621insC ENST00000509416.1 + 0 402 ccttccttccttccttcctctc 0.347 4 9 --- --- --- --- LOC101927237 101927237 broad.mit.edu 37 4 68307833 68307835 + RNA DEL CAA CAA - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:68307833_68307835delCAA ENST00000502400.1 - 0 34 gtgccgtaggcaacaacaacaac 0.345 2 4 --- --- --- --- RASGEF1B 153020 broad.mit.edu 37 4 82864861 82864862 + RNA INS - - A rs61493563 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:82864861_82864862insA ENST00000510780.1 - 0 244 atagatattccaataccctgat 0.272 4 4 --- --- --- --- AGPAT9 84803 broad.mit.edu 37 4 84465717 84465717 + Frame_Shift_Del DEL C C - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:84465717delC ENST00000395226.2 + 3 388 c.170delC c.(169-171)acfs p.T57fs AGPAT9_ENST00000264409.4_Frame_Shift_Del_p.T57fs NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 57 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) GAAAAAGGAACCCCAAAGGAG 0.348 12 208 --- --- --- --- SMARCAD1 56916 broad.mit.edu 37 4 95199781 95199782 + Frame_Shift_Ins INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:95199781_95199782insC ENST00000354268.4 + 18 2266_2267 c.2193_2194insC c.(2191-2196)ttccccfs p.FP731fs SMARCAD1_ENST00000509418.1_Frame_Shift_Ins_p.FP301fs|SMARCAD1_ENST00000457823.2_Frame_Shift_Ins_p.FP731fs Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 731 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TCAAGCAGTTACCCCCCAAGAA 0.322 8 204 --- --- --- --- RP11-729M20.1 0 broad.mit.edu 37 4 105285327 105285328 + RNA DEL CT CT - rs111780886 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:105285327_105285328delCT ENST00000514327.1 + 0 250 ctccgccctcctctctctctct 0.505 2 4 --- --- --- --- LOC101929468 101929468 broad.mit.edu 37 4 105463634 105463635 + RNA INS - - AGA rs142362671 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:105463634_105463635insAGA ENST00000500179.1 + 0 96 aaccagttgagagaacataaat 0.416 5 8 --- --- --- --- LINC01256 104355285 broad.mit.edu 37 4 133581146 133581146 + RNA DEL T T - rs72325917 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:133581146delT ENST00000513270.1 + 0 323 GAGTAAAAGGTTTTTTTTTTC 0.294 4 3 --- --- --- --- RP11-138I17.1 0 broad.mit.edu 37 4 137739585 137739585 + RNA DEL T T - rs35268274 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:137739585delT ENST00000505736.1 - 0 155 cctttcttacttttttccctt 0.343 5 3 --- --- --- --- SLC7A11-AS1 641364 broad.mit.edu 37 4 139050732 139050733 + RNA DEL TA TA - rs151123087 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:139050732_139050733delTA ENST00000510767.1 + 0 1725 SLC7A11-AS1_ENST00000512786.1_RNA|LINC00616_ENST00000514600.1_lincRNA NR_038380.1 gcaaactatgtaccagatgttg 0.386 2 4 --- --- --- --- RP11-98O2.1 0 broad.mit.edu 37 4 139703035 139703036 + RNA INS - - T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:139703035_139703036insT ENST00000502606.1 + 0 144 ataatcatgtgttttttttttt 0.347 3 5 --- --- --- --- RP11-371F15.3 0 broad.mit.edu 37 4 139788195 139788196 + RNA INS - - GATACACT rs141373953 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:139788195_139788196insGATACACT ENST00000507038.1 - 0 158 RP11-371F15.3_ENST00000511951.1_RNA acacaccacacaatacacacca 0.485 3 4 --- --- --- --- RP11-371F15.3 0 broad.mit.edu 37 4 139790284 139790288 + RNA DEL GGGAG GGGAG - rs113211271 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:139790284_139790288delGGGAG ENST00000507038.1 - 0 158 RP11-371F15.3_ENST00000511951.1_RNA gggaagggatgggaggggagggaag 0.595 5 5 --- --- --- --- APELA 100506013 broad.mit.edu 37 4 165800715 165800716 + RNA INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:165800715_165800716insC ENST00000507152.1 + 0 494 NR_038825.1 tcccacctcagccccccaagta 0.559 2 4 --- --- --- --- RP11-310I9.1 0 broad.mit.edu 37 4 168976936 168976936 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:168976936delT ENST00000506926.1 - 0 103 TATGAAATGATTTTTTTTGAT 0.323 2 4 --- --- --- --- LOC101928877 101928877 broad.mit.edu 37 4 185976539 185976540 + RNA INS - - A rs144141808 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:185976539_185976540insA ENST00000509017.1 + 0 404 aatgaaaaaagaaaaaaaaaac 0.371 5 4 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190807503 190807506 + RNA DEL CACA CACA - rs111941233 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:190807503_190807506delCACA ENST00000511785.1 - 0 231 cagcagggtgcacacctagcccag 0.529 2 4 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190814786 190814786 + RNA DEL T T - rs113408955 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr4:190814786delT ENST00000511785.1 - 0 231 tttatccatctatccctcaat 0.378 3 5 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9827711 9827712 + RNA DEL CA CA - rs148705567 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:9827711_9827712delCA ENST00000511616.1 - 0 521 NR_027112.2 tggtggcatgcacacacacaca 0.510 6 7 --- --- --- --- CTD-2066L21.3 0 broad.mit.edu 37 5 33041857 33041857 + RNA DEL G G - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:33041857delG ENST00000510327.1 - 0 346 GGCACCCACCGGCCAGGCCTA 0.647 2 4 --- --- --- --- LOC100506526 100506526 broad.mit.edu 37 5 61030956 61030956 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:61030956delT ENST00000506550.1 - 0 292 GAGAGTTACGTTTTTAATTAT 0.358 2 4 --- --- --- --- RP11-434D9.2 0 broad.mit.edu 37 5 67182974 67182975 + RNA INS - - A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:67182974_67182975insA ENST00000514791.1 - 0 349 p.0?(1) GAGTCCCTGAGAAAAAGGCAAT 0.386 2 4 --- --- --- --- PCSK1 5122 broad.mit.edu 37 5 95746639 95746640 + Frame_Shift_Ins INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:95746639_95746640insC ENST00000311106.3 - 8 1170_1171 c.933_934insG c.(931-936)gggtcafs p.S312fs PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 312 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity p.R312C(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTCCCTGACGCCCCCCGTTTC 0.530 9 356 --- --- --- --- CTD-2337A12.1 0 broad.mit.edu 37 5 95813011 95813012 + RNA DEL CA CA - rs10598300 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:95813011_95813012delCA ENST00000502645.2 + 0 354 cgcacgcgtgcacacacacaca 0.416 2 4 --- --- --- --- CAST 831 broad.mit.edu 37 5 95871090 95871091 + RNA INS - - A rs138955939 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:95871090_95871091insA ENST00000502645.2 + 0 354 agataaaatgtaaaaaatcagt 0.322 6 3 --- --- --- --- RP11-155G15.2 0 broad.mit.edu 37 5 96654596 96654597 + RNA INS - - G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:96654596_96654597insG ENST00000504578.1 + 0 71 aggggagagatgggggagttgc 0.460 2 4 --- --- --- --- LOC285638 285638 broad.mit.edu 37 5 108626560 108626561 + RNA INS - - A rs138092354 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:108626560_108626561insA ENST00000512693.1 - 0 4472 cctgaccagtggagagctccag 0.599 3 4 --- --- --- --- LOC285638 285638 broad.mit.edu 37 5 108630041 108630041 + RNA DEL A A - rs58790379 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:108630041delA ENST00000512693.1 - 0 4472 aagtaggcttatatccctgga 0.358 5 2 --- --- --- --- LINC01183 728586 broad.mit.edu 37 5 127182512 127182525 + RNA DEL AAAAAAAAAAAAAA AAAAAAAAAAAAAA - rs57842409 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:127182512_127182525delAAAAAAAAAAAAAA ENST00000514853.2 + 0 467 CTC-228N24.2_ENST00000507509.1_lincRNA TCAATAAAGCaaaaaaaaaaaaaaaaaaaaaaaa 0.397 2 4 --- --- --- --- CTC-321K16.1 0 broad.mit.edu 37 5 134936695 134936698 + RNA DEL ACTG ACTG - rs4037079 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:134936695_134936698delACTG ENST00000514446.1 + 0 413 CTC-321K16.1_ENST00000509372.1_RNA TTTTTGACTAACTGACTGACTAAA 0.480 4 2 --- --- --- --- NPY6R 4888 broad.mit.edu 37 5 137141927 137141928 + RNA INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:137141927_137141928insC ENST00000510937.1 + 0 260 NR_002713.3 GATGAGGAGTACCCCCCCACCT 0.411 3 6 --- --- --- --- CTD-2532K18.1 0 broad.mit.edu 37 5 174256909 174256909 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:174256909delA ENST00000502684.1 + 0 50 aaactccaataaatctctgga 0.428 2 4 --- --- --- --- THOC3 84321 broad.mit.edu 37 5 175365109 175365110 + RNA INS - - A rs143185541 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr5:175365109_175365110insA ENST00000502813.1 - 0 87 TACATACATTTAAAAAAAAAAA 0.441 4 2 --- --- --- --- LY86-AS1 285780 broad.mit.edu 37 6 6581288 6581289 + RNA INS - - A rs11381372 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr6:6581288_6581289insA ENST00000435641.1 - 0 388 LY86-AS1_ENST00000447858.1_RNA|LY86-AS1_ENST00000429345.1_RNA GCAGAGGCCACAGCCAATGAAG 0.441 3 4 --- --- --- --- RP11-716O23.1 0 broad.mit.edu 37 6 11419717 11419725 + RNA DEL CAGTGGCCC CAGTGGCCC - rs57242259 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr6:11419717_11419725delCAGTGGCCC ENST00000419796.1 + 0 230 gtcccagtgtcagtggccccagtggcccc 0.598 3 4 --- --- --- --- CMAHP 8418 broad.mit.edu 37 6 25089567 25089568 + RNA INS - - A rs3838674 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr6:25089567_25089568insA ENST00000377989.4 - 0 1962 NS(1) 1 ATGCAGTCTGCCCCAGCTTCAC 0.505 3 6 --- --- --- --- LOC101928280 101928280 broad.mit.edu 37 6 69013323 69013323 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr6:69013323delT ENST00000445346.1 - 0 237 ccctgctttcttttttttttt 0.313 2 4 --- --- --- --- RP1-292B18.4 0 broad.mit.edu 37 6 151518963 151518965 + RNA DEL AAG AAG - rs57483688 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr6:151518963_151518965delAAG ENST00000415477.1 - 0 66 agaaaaagaaaagagagaaagaa 0.340 3 6 --- --- --- --- LOC100505938 100505938 broad.mit.edu 37 7 8356992 8356993 + RNA INS - - G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:8356992_8356993insG ENST00000424460.1 + 0 493 RP4-594A5.1_ENST00000435967.1_lincRNA gttaatgggtaggggggcctgt 0.470 2 4 --- --- --- --- LOC101927630 101927630 broad.mit.edu 37 7 17593181 17593182 + RNA INS - - G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:17593181_17593182insG ENST00000451792.1 - 0 158 aagagtgatctgggggggcttt 0.366 3 6 --- --- --- --- FAM126A 84668 broad.mit.edu 37 7 22945744 22945745 + RNA INS - - T rs75533425 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:22945744_22945745insT ENST00000421730.1 - 0 137 GAATGCGGCAATTTTTTTTCCA 0.307 3 4 --- --- --- --- JAZF1-AS1 100128081 broad.mit.edu 37 7 28264832 28264833 + RNA INS - - AC rs10635411 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:28264832_28264833insAC ENST00000455963.1 + 0 301 JAZF1-AS1_ENST00000436758.1_RNA tgcacacacagacacacacaca 0.470 3 3 --- --- --- --- NPSR1-AS1 404744 broad.mit.edu 37 7 34489398 34489399 + RNA INS - - AC rs71892604 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:34489398_34489399insAC ENST00000419766.1 - 0 310 NR_033664.1|NR_033665.1 TTCTACTTTCTacacacacaca 0.371 3 4 --- --- --- --- AC005027.3 0 broad.mit.edu 37 7 41713985 41713985 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:41713985delT ENST00000416150.1 - 0 52 TCTATGGCCATTTTTTTTTTG 0.274 3 3 --- --- --- --- AC004901.1 0 broad.mit.edu 37 7 47041085 47041086 + RNA INS - - A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:47041085_47041086insA ENST00000433337.1 - 0 237 AC004870.3_ENST00000412996.1_RNA ATAACAACAACAAAAAAAAAAT 0.297 2 4 --- --- --- --- RP5-921G16.1 0 broad.mit.edu 37 7 123781072 123781073 + RNA INS - - T rs150645666 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:123781072_123781073insT ENST00000484322.1 + 0 168 tttgatttttcttttttttgat 0.386 3 5 --- --- --- --- CCDC136 64753 broad.mit.edu 37 7 128457829 128457830 + Frame_Shift_Ins INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:128457829_128457830insC ENST00000297788.4 + 17 3748_3749 c.3381_3382insC c.(3379-3384)aaccccfs p.NP1127fs CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1127 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CTACCCCCAATCCCCCCATCTT 0.520 8 849 --- --- --- --- EPHA1-AS1 285965 broad.mit.edu 37 7 143124168 143124171 + RNA DEL AGAG AGAG - rs141124951 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:143124168_143124171delAGAG ENST00000429289.1 + 0 206 NR_033897.1 GTACTGAGAAAGAGAGAGAAAGTC 0.392 5 6 --- --- --- --- C7orf13 129790 broad.mit.edu 37 7 156363326 156363327 + RNA INS - - G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr7:156363326_156363327insG ENST00000447933.1 - 0 300 cagggaagagtgggggggcggg 0.436 3 5 --- --- --- --- PRSS51 346702 broad.mit.edu 37 8 10367198 10367212 + RNA DEL AAAACAAAACAAAAC AAAACAAAACAAAAC - rs59689112 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:10367198_10367212delAAAACAAAACAAAAC ENST00000523024.1 - 0 156 PRSS51_ENST00000521149.1_RNA aaaaaaaaaaaaaacaaaacaaaacaaaaaacaaa 0.223 6 0 --- --- --- --- RP11-468H14.2 0 broad.mit.edu 37 8 17004768 17004771 + RNA DEL TCTC TCTC - rs36033398 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:17004768_17004771delTCTC ENST00000513892.2 + 0 2007 cttctctctgtctctctctctctc 0.475 3 4 --- --- --- --- RP11-108E14.1 0 broad.mit.edu 37 8 20513425 20513425 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:20513425delT ENST00000517706.1 - 0 540 ttctaataggtttttttttaa 0.348 2 4 --- --- --- --- RP11-566H8.3 0 broad.mit.edu 37 8 31236454 31236454 + RNA DEL T T - rs3074104 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:31236454delT ENST00000524022.1 + 0 213 tgttgcaagcttttttttttt 0.313 2 4 --- --- --- --- RP11-359E19.2 0 broad.mit.edu 37 8 39984063 39984064 + RNA INS - - T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:39984063_39984064insT ENST00000521257.1 + 0 351 aaaaataagccttttttttttt 0.446 3 5 --- --- --- --- RP11-659E9.2 0 broad.mit.edu 37 8 63926829 63926829 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:63926829delA ENST00000524309.1 + 0 139 AGGAGTTCCTAAATTTCATAC 0.478 2 4 --- --- --- --- ZFHX4-AS1 100192378 broad.mit.edu 37 8 77592697 77592698 + RNA INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:77592697_77592698insC ENST00000518143.1 - 0 227 ZFHX4-AS1_ENST00000522961.1_RNA NR_024360.1 ACTGTACCCCACCCCCCCATCA 0.371 4 2 --- --- --- --- RP11-122C21.1 0 broad.mit.edu 37 8 92756466 92756466 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:92756466delA ENST00000518416.1 - 0 415 cagaagcaataaaaaaAAAAA 0.403 2 4 --- --- --- --- LINC00535 642924 broad.mit.edu 37 8 94601601 94601601 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:94601601delA ENST00000501400.1 - 0 948 NR_033858.1 GCTTCAATTTAAAAAAAAAAA 0.413 3 6 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96298904 96298905 + RNA INS - - TC rs142767540 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:96298904_96298905insTC ENST00000521905.1 + 0 55 AGCCAGAAACTTTTTTTGACAT 0.347 4 3 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96330983 96330986 + RNA DEL TATC TATC - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:96330983_96330986delTATC ENST00000521905.1 + 0 126 tctccacttttatctatctatctc 0.436 6 10 --- --- --- --- LOC101927172 101927172 broad.mit.edu 37 8 102494532 102494532 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:102494532delT ENST00000520268.1 - 0 50 attcttgtacttttttttttt 0.264 2 4 --- --- --- --- LINC01181 379034 broad.mit.edu 37 8 104138484 104138484 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:104138484delT ENST00000503718.2 + 0 182 AGTGGAAGTCTTTTTTTTTTT 0.333 2 4 --- --- --- --- RP11-775B15.2 0 broad.mit.edu 37 8 120458962 120458963 + RNA INS - - T rs56778545 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:120458962_120458963insT ENST00000519786.1 - 0 64 gctttaagTTCTTTTTTTTTTT 0.490 3 5 --- --- --- --- RP11-513H8.1 0 broad.mit.edu 37 8 135306455 135306456 + RNA INS - - A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr8:135306455_135306456insA ENST00000523317.1 - 0 84 catttactatgttccaggaact 0.436 2 4 --- --- --- --- LURAP1L-AS1 101929467 broad.mit.edu 37 9 12729307 12729307 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:12729307delA ENST00000417638.1 - 0 272 attcaaccataaaaagcagag 0.393 2 4 --- --- --- --- LURAP1L-AS1 101929467 broad.mit.edu 37 9 12741290 12741291 + RNA INS - - T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:12741290_12741291insT ENST00000417638.1 - 0 272 ttttaGCAAAGTttttttttct 0.307 2 4 --- --- --- --- TJP2 9414 broad.mit.edu 37 9 71835952 71835953 + Frame_Shift_Ins INS - - G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:71835952_71835953insG ENST00000377245.4 + 5 700_701 c.492_493insG c.(490-495)caggggfs p.QG164fs TJP2_ENST00000453658.2_Frame_Shift_Ins_p.QG141fs|TJP2_ENST00000535702.1_Frame_Shift_Ins_p.QG168fs|TJP2_ENST00000265384.7_Frame_Shift_Ins_p.QG164fs|TJP2_ENST00000348208.4_Frame_Shift_Ins_p.QG164fs|TJP2_ENST00000539225.1_Frame_Shift_Ins_p.QG195fs NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 164 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 TGAACAGCCATGGGGGGCGCAG 0.683 2 4 --- --- --- --- LOC101927358 101927358 broad.mit.edu 37 9 76991703 76991704 + RNA INS - - A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:76991703_76991704insA ENST00000423681.1 + 0 540 accccatcttcaaaaatggcgg 0.431 2 4 --- --- --- --- RP11-395D3.1 0 broad.mit.edu 37 9 89306992 89306993 + RNA INS - - T rs143731149 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:89306992_89306993insT ENST00000443163.1 + 0 166 gatgaggcagattttttttttc 0.381 4 5 --- --- --- --- LINC01508 101927873 broad.mit.edu 37 9 93141539 93141540 + RNA INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:93141539_93141540insC ENST00000425666.1 - 0 261 TAtgaattgtgccccccacaaa 0.396 2 4 --- --- --- --- RP11-308N19.1 0 broad.mit.edu 37 9 109108841 109108842 + RNA INS - - T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:109108841_109108842insT ENST00000435485.1 + 0 171 tctcagaaaagttttttttttg 0.287 2 4 --- --- --- --- RP11-202G18.1 0 broad.mit.edu 37 9 113956273 113956273 + RNA DEL A A - rs61132599 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:113956273delA ENST00000426204.1 - 0 370 actcactcagaaaaaaggtct 0.468 3 5 --- --- --- --- RP11-202G18.1 0 broad.mit.edu 37 9 114033773 114033774 + RNA INS - - C rs71494826 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr9:114033773_114033774insC ENST00000426204.1 - 0 370 GTTTCAAGTTTCCCTTTTCTCA 0.396 4 3 --- --- --- --- LINC00202-2 731789 broad.mit.edu 37 10 26939996 26939996 + RNA DEL T T - rs67889976 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr10:26939996delT ENST00000544033.1 + 0 5653 NR_026794.1 CTCCATAACATTTTTTCAACC 0.318 4 4 --- --- --- --- RP11-672F9.1 0 broad.mit.edu 37 10 38605725 38605726 + RNA DEL CA CA - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr10:38605725_38605726delCA ENST00000450980.1 + 0 313 TGTGTGCACGCACACACACACA 0.391 2 4 --- --- --- --- CEP164P1 100289237 broad.mit.edu 37 10 45533255 45533256 + RNA INS - - T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr10:45533255_45533256insT ENST00000456938.2 - 0 411 tacaacaaaccccctgatacct 0.391 2 4 --- --- --- --- NUTM2B-AS1 101060691 broad.mit.edu 37 10 81513560 81513560 + RNA DEL G G - rs75607845 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr10:81513560delG ENST00000601369.1 - 0 59 RP11-119F19.2_ENST00000596088.1_RNA|RP11-119F19.2_ENST00000600376.1_RNA aaaaaaaaaagaaaaaaacaa 0.338 2 4 --- --- --- --- LOC101926942 101926942 broad.mit.edu 37 10 92289399 92289400 + RNA DEL TG TG - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr10:92289399_92289400delTG ENST00000418379.1 - 0 74 AAGGTTGCACtgtgtgtgtgtg 0.426 3 3 --- --- --- --- OLMALINC 90271 broad.mit.edu 37 10 102136361 102136361 + RNA DEL A A - rs78452484 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr10:102136361delA ENST00000454935.1 + 0 398 acaccgtctcaaaaaaaaaaa 0.443 2 4 --- --- --- --- RP11-539I5.1 0 broad.mit.edu 37 10 118597935 118597936 + RNA INS - - G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr10:118597935_118597936insG ENST00000453491.1 - 0 136 RP11-539I5.1_ENST00000434227.1_RNA ATATTTCTGGAGGGGGGGAAAA 0.480 3 5 --- --- --- --- FAM160A2 84067 broad.mit.edu 37 11 6240282 6240283 + Splice_Site INS - - G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:6240282_6240283insG ENST00000265978.4 - 7 1550 c.e7-2 FAM160A2_ENST00000449352.2_Splice_Site|FAM160A2_ENST00000524416.1_Splice_Site NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CATGCAGAGCTGGGGGGGTGGA 0.604 8 51 --- --- --- --- CASC23 103581031 broad.mit.edu 37 11 8033121 8033122 + RNA INS - - A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:8033121_8033122insA ENST00000534076.1 - 0 1265_1266 aggaggacaagaaaaaaaaagg 0.446 2 4 --- --- --- --- RP11-179A10.1 0 broad.mit.edu 37 11 11157070 11157071 + RNA DEL AA AA - rs148196066 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:11157070_11157071delAA ENST00000525758.1 + 0 108 CATTAAAAGCaaaaaaaaaaaa 0.396 2 4 --- --- --- --- RP11-98J9.2 0 broad.mit.edu 37 11 13886058 13886058 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:13886058delT ENST00000530492.1 - 0 78 RP11-98J9.3_ENST00000525381.1_lincRNA ACCTACACCCTTTTTTGGCCT 0.493 2 4 --- --- --- --- RP11-266A24.1 0 broad.mit.edu 37 11 23212707 23212708 + RNA DEL AT AT - rs141820314 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:23212707_23212708delAT ENST00000533591.1 + 0 391 agcatctcacatagccaTATAT 0.376 3 6 --- --- --- --- RP11-266A24.1 0 broad.mit.edu 37 11 23223821 23223822 + RNA INS - - CTC rs72104931 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:23223821_23223822insCTC ENST00000533591.1 + 0 521 agaagtgcctactcctccctga 0.629 3 4 --- --- --- --- RP11-587D21.4 0 broad.mit.edu 37 11 27816481 27816482 + RNA INS - - T rs72209031 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:27816481_27816482insT ENST00000530663.1 - 0 147 tctcaggtagctttactcatgg 0.431 2 4 --- --- --- --- RP11-466I1.1 0 broad.mit.edu 37 11 29188529 29188529 + RNA DEL T T - rs143593377 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:29188529delT ENST00000530960.1 + 0 184 CTTTCACCACTTTTTTTTTCA 0.333 6 1 --- --- --- --- RP11-466I1.1 0 broad.mit.edu 37 11 29234726 29234727 + RNA INS - - A rs118177222 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:29234726_29234727insA ENST00000530960.1 + 0 295 ctcactatcacaaaaacagcat 0.465 2 4 --- --- --- --- CSTF3-AS1 338739 broad.mit.edu 37 11 33187411 33187412 + RNA DEL AC AC - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:33187411_33187412delAC ENST00000500025.2 + 0 94 CSTF3-AS1_ENST00000531870.1_RNA NR_034027.1 ttttttaAAAACACACACACAC 0.356 2 4 --- --- --- --- RP11-124G5.3 0 broad.mit.edu 37 11 41567730 41567730 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:41567730delT ENST00000526978.1 - 0 519 tgaaaagaaatgaacaaagcc 0.333 2 4 --- --- --- --- RP11-124G5.3 0 broad.mit.edu 37 11 41663037 41663038 + RNA INS - - GGGTC rs142349053 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:41663037_41663038insGGGTC ENST00000526978.1 - 0 149 gttcttgtgctgggtctttctc 0.401 2 4 --- --- --- --- RP11-882G5.1 0 broad.mit.edu 37 11 97128986 97128989 + RNA DEL AACA AACA - rs71899772 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:97128986_97128989delAACA ENST00000529088.1 - 0 357 gcaagactccaacaaacaaacaaa 0.382 3 3 --- --- --- --- RP11-839D17.3 0 broad.mit.edu 37 11 113175197 113175201 + RNA DEL AAGTA AAGTA - rs66463343 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:113175197_113175201delAAGTA ENST00000526487.1 - 0 95 RP11-839D17.3_ENST00000533504.1_RNA tagtcaagtgaagtagagaaatgaa 0.288 3 4 --- --- --- --- TECTA 7007 broad.mit.edu 37 11 120976570 120976570 + Frame_Shift_Del DEL G G - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:120976570delG ENST00000392793.1 + 3 366 c.95delG c.(94-96)tgfs p.W32fs TECTA_ENST00000264037.2_Frame_Shift_Del_p.W32fs O75443 TECTA_HUMAN tectorin alpha 32 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TATCCATTTTGGCAGAATGAC 0.478 8 94 --- --- --- --- C11orf44 283171 broad.mit.edu 37 11 130542994 130542994 + Frame_Shift_Del DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:130542994delA ENST00000317019.2 + 1 144 c.121delA c.(121-123)ggfs p.R41fs NM_001271983.1 NP_001258912.1 chromosome 11 open reading frame 44 central_nervous_system(1) 1 CTGTGAGCTCAGGTGGACTCA 0.602 2 4 --- --- --- --- LOC100507431 100507431 broad.mit.edu 37 11 130730716 130730717 + RNA INS - - AGGCCCC rs66463260 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:130730716_130730717insAGGCCCC ENST00000533812.2 - 0 946 TAAACCCTGCTAGagaggtgcg 0.530 4 2 --- --- --- --- AP002856.5 0 broad.mit.edu 37 11 131201054 131201054 + RNA DEL T T - rs57047174 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr11:131201054delT ENST00000606885.1 + 0 146 ccaaccagcatttagcagaga 0.468 4 3 --- --- --- --- RP11-1038A11.3 0 broad.mit.edu 37 12 5463018 5463022 + RNA DEL GAAAG GAAAG - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:5463018_5463022delGAAAG ENST00000537192.1 + 0 219 aaggaaagaagaaaggaaggaaggg 0.468 5 9 --- --- --- --- RP11-1038A11.3 0 broad.mit.edu 37 12 5480919 5480920 + RNA INS - - CT rs140527263 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:5480919_5480920insCT ENST00000537192.1 + 0 414 acacacacacaAGCAGTATTTC 0.401 5 8 --- --- --- --- RP11-273B20.3 0 broad.mit.edu 37 12 7338793 7338794 + RNA INS - - G rs140028876 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:7338793_7338794insG ENST00000545794.1 - 0 279 RP11-273B20.3_ENST00000543061.1_RNA tcctgttgagaggggggactga 0.500 2 4 --- --- --- --- RP11-272B17.1 0 broad.mit.edu 37 12 59797025 59797025 + RNA DEL G G - rs3215070 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:59797025delG ENST00000547088.1 - 0 107 CATTTATCTCGGGGGGCCAAG 0.458 7 3 --- --- --- --- RP11-123O10.4 0 broad.mit.edu 37 12 67392201 67392202 + RNA INS - - A rs35980470 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:67392201_67392202insA ENST00000535721.1 - 0 113 acttttctgataaaaaaaAATA 0.327 5 4 --- --- --- --- RP11-13A1.3 0 broad.mit.edu 37 12 89546977 89546977 + RNA DEL A A - rs78388942 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:89546977delA ENST00000549278.1 - 0 144 gtgaatgtgcaaaaaaaaaaa 0.418 3 5 --- --- --- --- RP11-690J15.1 0 broad.mit.edu 37 12 98563880 98563880 + RNA DEL A A - rs66514569 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:98563880delA ENST00000548344.1 - 0 68 caaatgggttaaaaaaaaatc 0.274 3 4 --- --- --- --- RP11-110L15.2 0 broad.mit.edu 37 12 116322632 116322632 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:116322632delA ENST00000546414.1 - 0 155 ctcatctgtgaaaaagggcta 0.423 2 4 --- --- --- --- RP11-148B3.2 0 broad.mit.edu 37 12 116813814 116813815 + RNA DEL TG TG - rs74205166 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:116813814_116813815delTG ENST00000548506.1 + 0 74 tgagtatgcatgtgtgtgtgta 0.441 9 6 --- --- --- --- FAM101A 144347 broad.mit.edu 37 12 124645178 124645179 + RNA INS - - T rs140134610 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr12:124645178_124645179insT ENST00000540762.1 + 0 444 AGGGCTGAGAGTTGGAACACAG 0.401 4 2 --- --- --- --- RP11-16D22.2 0 broad.mit.edu 37 13 34943567 34943567 + RNA DEL A A - rs11318763 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr13:34943567delA ENST00000605909.1 + 0 82 ATAGTAAGTGATGGGGAGAGG 0.473 3 3 --- --- --- --- RP11-478K15.1 0 broad.mit.edu 37 13 44703668 44703669 + RNA DEL CA CA - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr13:44703668_44703669delCA ENST00000432331.1 - 0 134 AGGTTAGGTGCACACACACACA 0.490 2 4 --- --- --- --- NALCN-AS1 100885778 broad.mit.edu 37 13 101435362 101435363 + RNA INS - - T rs58863278 byFrequency TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr13:101435362_101435363insT ENST00000457843.1 + 0 141 NR_047687.1 AGTTGATTCCATTTTTCACTTT 0.391 2 4 --- --- --- --- NALCN-AS1 100885778 broad.mit.edu 37 13 101592220 101592221 + RNA DEL AC AC - rs112658227 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr13:101592220_101592221delAC ENST00000457843.1 + 0 141 NR_047687.1 ctgtctcaaaacacacacacac 0.450 2 4 --- --- --- --- NALCN-AS1 100885778 broad.mit.edu 37 13 101642705 101642705 + RNA DEL C C - rs142037122 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr13:101642705delC ENST00000457843.1 + 0 141 NR_047687.1 ggatgatcaacccttaccctt 0.438 4 2 --- --- --- --- NOVA1-AS1 387977 broad.mit.edu 37 14 27192299 27192300 + RNA INS - - AT rs71935948 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr14:27192299_27192300insAT ENST00000552826.1 + 0 93 ACTGATTAAACAAATATTTTAA 0.252 3 3 --- --- --- --- RP11-159L20.2 0 broad.mit.edu 37 14 31286685 31286685 + RNA DEL C C - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr14:31286685delC ENST00000554665.1 - 0 208 caacagccttcccctggcccc 0.428 2 4 --- --- --- --- CTD-2307P3.1 0 broad.mit.edu 37 14 43017073 43017073 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr14:43017073delA ENST00000557251.1 + 0 166 gtgtaaaatcaaaacaggtta 0.383 2 4 --- --- --- --- LINC00871 100506412 broad.mit.edu 37 14 46697135 46697135 + RNA DEL A A - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr14:46697135delA ENST00000556886.1 + 0 232 NR_102701.1 cttaaagtataaaaaaaGTCA 0.333 2 4 --- --- --- --- RP11-2G1.1 0 broad.mit.edu 37 14 48952155 48952155 + RNA DEL G G - rs143664820 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr14:48952155delG ENST00000555693.1 - 0 123 aggatatccaggaatttaact 0.418 2 4 --- --- --- --- LINC01269 103695436 broad.mit.edu 37 14 71177385 71177385 + RNA DEL T T - rs11321553 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr14:71177385delT ENST00000553682.1 + 0 458 tctttctttcttttctttctt 0.363 2 4 --- --- --- --- RP11-61O1.1 0 broad.mit.edu 37 14 98664391 98664392 + RNA DEL GT GT - rs71462785 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr14:98664391_98664392delGT ENST00000555776.1 - 0 121 gagagaaagagtgtgtgtgtgt 0.431 5 4 --- --- --- --- PWRN1 791114 broad.mit.edu 37 15 24827239 24827239 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:24827239delT ENST00000568609.1 + 0 1230 NR_026646.1 cacatataTAttttttttttc 0.398 2 4 --- --- --- --- RP11-346D14.1 0 broad.mit.edu 37 15 38445454 38445454 + RNA DEL C C - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:38445454delC ENST00000561320.1 - 0 222 tgagaattttccacaattgat 0.328 2 4 --- --- --- --- CTD-2184D3.5 0 broad.mit.edu 37 15 52358894 52358896 + RNA DEL TAA TAA - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:52358894_52358896delTAA ENST00000558607.1 - 0 54 CCAATTCTATTAATATCTGCCCA 0.389 3 4 --- --- --- --- RP11-1129I3.1 0 broad.mit.edu 37 15 56869192 56869192 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:56869192delT ENST00000562300.1 - 0 439 ccagtcaatatttttttttag 0.343 2 4 --- --- --- --- CTD-2034I4.1 0 broad.mit.edu 37 15 81777820 81777821 + RNA INS - - T rs71871538 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:81777820_81777821insT ENST00000559211.1 + 0 98 AGGTACTGttcttttttttttt 0.446 2 4 --- --- --- --- CTD-2034I4.1 0 broad.mit.edu 37 15 81846739 81846739 + RNA DEL T T - rs72246976 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:81846739delT ENST00000559211.1 + 0 98 TCTAATTACCttttttttttt 0.488 2 4 --- --- --- --- NR2F2-AS1 644192 broad.mit.edu 37 15 96688596 96688597 + RNA INS - - T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr15:96688596_96688597insT ENST00000560800.1 - 0 263 TGGCCATGTAAttttttttttt 0.460 2 4 --- --- --- --- CTA-481E9.3 0 broad.mit.edu 37 16 18141782 18141783 + RNA DEL TG TG - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr16:18141782_18141783delTG ENST00000563866.1 - 0 48 CTA-481E9.4_ENST00000567304.1_lincRNA tgcacacacatgtatatacata 0.297 6 2 --- --- --- --- CTA-481E9.3 0 broad.mit.edu 37 16 18153100 18153101 + RNA DEL TG TG - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr16:18153100_18153101delTG ENST00000563866.1 - 0 48 CTA-481E9.4_ENST00000567304.1_lincRNA ggaggggttctgtgtgtgtatg 0.446 2 4 --- --- --- --- CTA-481E9.3 0 broad.mit.edu 37 16 18185595 18185602 + RNA DEL GAAAAATA GAAAAATA - rs112849494 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr16:18185595_18185602delGAAAAATA ENST00000563866.1 - 0 48 CTA-481E9.4_ENST00000567304.1_lincRNA tggatggatggaaaaatagatggatgga 0.399 3 3 --- --- --- --- AC012322.1 0 broad.mit.edu 37 16 64315574 64315574 + RNA DEL C C - rs34968100 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr16:64315574delC ENST00000561657.1 - 0 584 ggtcactgaacatttagtcta 0.338 2 4 --- --- --- --- RP11-467L24.1 0 broad.mit.edu 37 16 64470187 64470196 + RNA DEL ACACACACAC ACACACACAC - rs150621750 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr16:64470187_64470196delACACACACAC ENST00000564046.1 + 0 116 acacacacagacacacacacacacacacac 0.381 3 4 --- --- --- --- RP11-256I9.3 0 broad.mit.edu 37 16 65276050 65276050 + RNA DEL A A - rs35338001 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr16:65276050delA ENST00000562656.1 + 0 125 CCCAGATGTGAAAAAAAAAAA 0.368 5 3 --- --- --- --- LINC00922 283867 broad.mit.edu 37 16 65496427 65496428 + RNA INS - - T rs146829595 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr16:65496427_65496428insT ENST00000569736.1 - 0 217 NR_027755.1 ACTCAACAACCTTTCAATCTGG 0.406 3 6 --- --- --- --- CLEC3A 10143 broad.mit.edu 37 16 78067872 78067873 + RNA INS - - T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr16:78067872_78067873insT ENST00000563114.1 - 0 41 ctaatttttacttttgtagaga 0.530 2 4 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29576097 29576098 + Frame_Shift_Ins INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr17:29576097_29576098insC ENST00000358273.4 + 30 4453_4454 c.4070_4071insC c.(4069-4071)tccfs p.S1357fs NF1_ENST00000356175.3_Frame_Shift_Ins_p.S1357fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1357 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCCTCAGAATTCCCCCCTCAAC 0.406 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 8 167 --- --- --- --- AC004231.2 0 broad.mit.edu 37 17 39125637 39125638 + RNA INS - - A rs137946356 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr17:39125637_39125638insA ENST00000418393.1 + 0 385 cttaaaataagaaaaaatgctc 0.292 2 4 --- --- --- --- AC099850.1 0 broad.mit.edu 37 17 57186833 57186833 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr17:57186833delT ENST00000451775.1 + 0 994 TTTGTTGTTGTTTTTTTTTTG 0.343 2 4 --- --- --- --- LINC01028 101928141 broad.mit.edu 37 17 68063664 68063665 + RNA INS - - T rs138969498 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr17:68063664_68063665insT ENST00000586373.1 + 0 473_474 AC002539.1_ENST00000587325.1_RNA|AC002539.1_ENST00000435112.1_RNA gtgtgtgtgtgtgtgtTTCCAC 0.406 2 4 --- --- --- --- CASC17 101928165 broad.mit.edu 37 17 69152637 69152638 + RNA DEL AC AC - rs35451822 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr17:69152637_69152638delAC ENST00000569074.1 - 0 134 GAAGTGTAATacacacacacac 0.376 3 3 --- --- --- --- RP11-419J16.1 0 broad.mit.edu 37 18 10141933 10141934 + RNA INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr18:10141933_10141934insC ENST00000582470.1 + 0 162 AAATTCCATTTCCCACCCGCCA 0.381 2 4 --- --- --- --- LOC101927571 101927571 broad.mit.edu 37 18 20380266 20380266 + RNA DEL G G - rs5823361 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr18:20380266delG ENST00000583086.1 - 0 84 RP11-739L10.1_ENST00000578831.1_RNA CTGGTTGTACGGGGAAGCAGT 0.438 4 3 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22328645 22328646 + RNA INS - - T rs146299092 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr18:22328645_22328646insT ENST00000582650.1 + 0 235 tccttccttcctccttccctcc 0.485 2 4 --- --- --- --- AQP4-AS1 147429 broad.mit.edu 37 18 24490288 24490295 + RNA DEL ACCTCACT ACCTCACT - rs11278668 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr18:24490288_24490295delACCTCACT ENST00000568797.1 + 0 175 AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA NR_026908.1 GAATGGGATAACCTCACTACCTGCACAA 0.466 4 6 --- --- --- --- LINC00907 284260 broad.mit.edu 37 18 39845445 39845446 + RNA INS - - T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr18:39845445_39845446insT ENST00000593234.1 + 0 402 NR_046456.1 AAATTTGTTGGTTTTTCTCAAA 0.347 2 4 --- --- --- --- CTD-2008L17.1 0 broad.mit.edu 37 18 53647384 53647385 + RNA INS - - AGAG rs112340322 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr18:53647384_53647385insAGAG ENST00000589440.1 + 0 405 gagagacacacagagagagaga 0.391 3 4 --- --- --- --- RP11-325K19.1 0 broad.mit.edu 37 18 58372880 58372881 + RNA INS - - C TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr18:58372880_58372881insC ENST00000591869.1 - 0 228 TAGGGAGGCTGCCCCTACAACA 0.322 2 4 --- --- --- --- RP11-325K19.1 0 broad.mit.edu 37 18 58554075 58554076 + RNA INS - - GT rs72201904 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr18:58554075_58554076insGT ENST00000591869.1 - 0 38 ATGCTTTTGGGgtgtgtgtgtg 0.460 2 4 --- --- --- --- LOC284294 284294 broad.mit.edu 37 18 61978249 61978249 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr18:61978249delT ENST00000589376.1 + 0 580 NR_033881.1 AAAGTCATCCTTTTTTCAGAC 0.378 2 4 --- --- --- --- SPACA6P 147650 broad.mit.edu 37 19 52205831 52205831 + RNA DEL A A - rs3835114 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr19:52205831delA ENST00000573266.1 + 0 1281 NR_024330.1 AGCATCGGGCAAGGGTTCTTC 0.567 6 10 --- --- --- --- SNAP25-AS1 100131208 broad.mit.edu 37 20 10189497 10189497 + RNA DEL T T - rs79186400 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr20:10189497delT ENST00000603542.1 - 0 518 SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000605592.1_RNA|SNAP25-AS1_ENST00000426491.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000451151.1_RNA NR_040710.1 atatttcatcttttttttttt 0.303 4 2 --- --- --- --- RP11-103J8.1 0 broad.mit.edu 37 20 10851446 10851447 + RNA INS - - G TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr20:10851446_10851447insG ENST00000605292.1 + 0 98 TGTCAGAGTATGGGGGCCCTAA 0.401 2 4 --- --- --- --- FAM182A 284800 broad.mit.edu 37 20 26061783 26061784 + RNA DEL TT TT - rs148692665 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr20:26061783_26061784delTT ENST00000376398.2 + 0 819 NR_026713.1 breast(1)|endometrium(2)|kidney(1) 4 tctctctctctttctttctGAT 0.406 2 4 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37203484 37203485 + Frame_Shift_Ins INS - - C rs138886522 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr20:37203484_37203485insC ENST00000262879.6 + 30 4643_4644 c.4359_4360insC c.(4357-4362)agccccfs p.SP1453fs RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.SP1450fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.SP1453fs|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.SP1232fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1453 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ACTCCTACAGTCCCCCCCATGT 0.431 9 132 --- --- --- --- APCDD1L-AS1 149773 broad.mit.edu 37 20 57129732 57129733 + RNA DEL AG AG - rs113928501 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr20:57129732_57129733delAG ENST00000427140.1 + 0 943 NR_034147.1 catgagagaaagagggaagcag 0.545 2 4 --- --- --- --- APCDD1L-AS1 149773 broad.mit.edu 37 20 57138009 57138010 + RNA INS - - T rs141446121 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr20:57138009_57138010insT ENST00000427140.1 + 0 943 NR_034147.1 tagtttggtacttttttTTTTT 0.510 3 3 --- --- --- --- MIR646HG 284757 broad.mit.edu 37 20 58822848 58822851 + RNA DEL TCTC TCTC - rs112386449 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr20:58822848_58822851delTCTC ENST00000432910.1 + 0 332 NR_046099.1 tctctttccttctctctctctctc 0.456 4 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11057305 11057306 + RNA INS - - G rs79091593 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr21:11057305_11057306insG ENST00000470054.1 - 0 487 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) TGGAGAAGATAGGAAAAAAAGC 0.347 9 19 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11079770 11079771 + RNA DEL TG TG - rs148543332 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr21:11079770_11079771delTG 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) TCCAAAACACTGTGCAGATGTA 0.406 9 8 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11084479 11084479 + RNA DEL A A - rs112755619 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr21:11084479delA 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) AGGGGGTCATAAAACCAGAAA 0.413 3 5 --- --- --- --- ABCC13 150000 broad.mit.edu 37 21 15695591 15695591 + RNA DEL A A - rs59029970 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr21:15695591delA ENST00000482980.1 + 0 2812 TTTCTCAGAGAAAAAAAAAAT 0.353 5 2 --- --- --- --- MIR99AHG 388815 broad.mit.edu 37 21 17486552 17486553 + RNA INS - - TT rs35985049 TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr21:17486552_17486553insTT ENST00000458468.1 + 0 312 NR_027790.1 gaaactccccattttttttttt 0.525 2 4 --- --- --- --- MIR99AHG 388815 broad.mit.edu 37 21 17742628 17742628 + RNA DEL A A - rs74383336 byFrequency TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr21:17742628delA ENST00000458468.1 + 0 469 NR_027790.1 CGTTGACTGTAAAAACAAACA 0.418 2 4 --- --- --- --- AF131217.1 0 broad.mit.edu 37 21 29829178 29829178 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr21:29829178delT ENST00000433310.1 - 0 456 cagtaatagcttaaagctcaa 0.388 2 4 --- --- --- --- GGT3P 2679 broad.mit.edu 37 22 18787487 18787487 + RNA DEL T T - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr22:18787487delT ENST00000412448.1 - 0 51 agtttggggctttttttttta 0.353 3 3 --- --- --- --- MIATNB 102724827 broad.mit.edu 37 22 27089241 27089242 + RNA INS - - T rs142787587 by1000genomes TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr22:27089241_27089242insT ENST00000437071.1 + 0 183 tcgcaaatgtCTAAGACTcttc 0.446 2 4 --- --- --- --- LINC01422 101929539 broad.mit.edu 37 22 27307714 27307714 + RNA DEL G G - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chr22:27307714delG ENST00000438113.1 + 0 282 gtggaacccaggggaggatcc 0.468 2 4 --- --- --- --- MID1 4281 broad.mit.edu 37 X 11040212 11040212 + RNA DEL G G - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:11040212delG ENST00000433747.2 - 0 423 aatttggcatgttttgcagtg 0.418 3 5 --- --- --- --- RP1-30E17.2 0 broad.mit.edu 37 X 127680438 127680439 + RNA INS - - T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:127680438_127680439insT ENST00000449485.1 - 0 158 gttccattgtatttttttttcc 0.376 2 4 --- --- --- --- LINC01201 104266960 broad.mit.edu 37 X 130150515 130150516 + RNA DEL AG AG - TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c5a3460-c1fa-4b7b-9b31-11f9c7b03255 799f2afe-c35a-453d-8f75-15a01883196b g.chrX:130150515_130150516delAG ENST00000451431.1 - 0 134 RP1-23K20.2_ENST00000412420.1_RNA cacatggcgcagagagagagag 0.465 3 4 --- --- --- ---