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 KIAA1407 57577 broad.mit.edu 37 3 113724677 113724677 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:113724677C>T ENST00000295878.3 - 10 1692 c.1546G>A c.(1546-1548)Ggc>Agc p.G516S KIAA1407_ENST00000545063.1_Missense_Mutation_p.G347S NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 516 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 TGCTTATTGCCAGGTGCACTC 0.537000 36 120 0 0 0.069456 0 0 DMP1 1758 broad.mit.edu 37 4 88584103 88584103 + Silent SNP A A T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:88584103A>T ENST00000339673.6 + 6 1272 c.1173A>T c.(1171-1173)acA>acT p.T391T RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Silent_p.T375T NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 391 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GCTCGCACACACTCTCCCACT 0.547000 83 241 0 0 0.139131 0 0 NCOA5 57727 broad.mit.edu 37 20 44695759 44695759 + Silent SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr20:44695759G>A ENST00000290231.6 - 5 728 c.564C>T c.(562-564)atC>atT p.I188I NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 188 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) AGCGTCTCTGGATTTCCTCAA 0.443000 105 88 0 0 0.139131 0 0 IRX4 50805 broad.mit.edu 37 5 1879616 1879616 + Splice_Site SNP A A T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:1879616A>T ENST00000505790.1 - 5 1193 c.e5+1 IRX4_ENST00000513692.1_Splice_Site|IRX4_ENST00000231357.2_Splice_Site|IRX4_ENST00000505938.1_Splice_Site NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) CTCCCAACCCACCTGCGTTCT 0.682000 3 7 0 0 0.115264 0 0 NAPEPLD 222236 broad.mit.edu 37 7 102760088 102760088 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr7:102760088C>T ENST00000417955.1 - 3 1031 c.877G>A c.(877-879)Gag>Aag p.E293K NAPEPLD_ENST00000341533.4_Missense_Mutation_p.E293K|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.E366K|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.E293K|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.E293K Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 293 phospholipid catabolic process membrane metal ion binding endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TTTCCTATCTCTTCAAAAGCA 0.443000 10 78 0 0 0.058154 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139484 90139484 + RNA SNP C C G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:90139484C>G ENST00000492446.1 + 0 282 CAAGGTTCAGCGGCAGTGGAT 0.498000 58 128 0 0 0.139131 0 0 APC 324 broad.mit.edu 37 5 112175324 112175324 + Nonsense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:112175324G>T ENST00000457016.1 + 16 4413 c.4033G>T c.(4033-4035)Gaa>Taa p.E1345* APC_ENST00000508376.2_Nonsense_Mutation_p.E1345*|APC_ENST00000257430.4_Nonsense_Mutation_p.E1345*|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1345 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1345*(3)|p.S1335fs*70(1)|p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TTTATCTTCAGAATCAGCCAG 0.478000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 33 31 5.91797e-21 8.35743e-21 0.050027 1 0 ARHGAP44 9912 broad.mit.edu 37 17 12823096 12823096 + Missense_Mutation SNP C C G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:12823096C>G ENST00000379672.5 + 6 712 c.412C>G c.(412-414)Cag>Gag p.Q138E ARHGAP44_ENST00000262444.9_Missense_Mutation_p.Q138E|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.Q138E NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 138 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TATTCAAAAGCAGAGGAAACA 0.398000 9 39 0 0 0.058154 0 0 XG 7499 broad.mit.edu 37 X 2712625 2712625 + Silent SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chrX:2712625C>A ENST00000426774.1 + 6 529 c.306C>A c.(304-306)ccC>ccA p.P102P XG_ENST00000381174.5_Silent_p.P101P|XG_ENST00000419513.2_Silent_p.P101P NM_001141920.1|NM_175569.2 NP_001135392.1|NP_780778.1 P55808 XG_HUMAN Xg blood group 101 integral to membrane|plasma membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CGCCCAGGCCCAGGCCACGGC 0.612000 11 5 1.08611e-07 1.26371e-07 0.080935 1 0 NCOA5 57727 broad.mit.edu 37 20 44698859 44698859 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr20:44698859G>A ENST00000290231.6 - 3 519 c.355C>T c.(355-357)Cct>Tct p.P119S NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 119 Arg/Asp-rich (mixed charge).|Transcription repression. 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) CTGTACATAGGATCTCGGGAG 0.413000 57 59 0 0 0.139131 0 0 MPDZ 8777 broad.mit.edu 37 9 13126768 13126768 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr9:13126768G>T ENST00000319217.7 - 33 4715 c.4468C>A c.(4468-4470)Cag>Aag p.Q1490K MPDZ_ENST00000538841.1_Missense_Mutation_p.Q349K|MPDZ_ENST00000541718.1_Missense_Mutation_p.Q1490K|MPDZ_ENST00000381015.4_Missense_Mutation_p.Q1490K|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381022.2_Missense_Mutation_p.Q1490K|MPDZ_ENST00000546205.1_Missense_Mutation_p.Q1504K|MPDZ_ENST00000536827.1_Missense_Mutation_p.Q1457K|MPDZ_ENST00000447879.1_Missense_Mutation_p.Q1457K NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1490 PDZ 9. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) AAACCCCCCTGATCCTAGAAA 0.398000 42 55 6.5261e-18 8.94318e-18 0.104719 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 87 0 0 0.038147 0 0 UNC80 285175 broad.mit.edu 37 2 210783307 210783307 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:210783307C>T ENST00000439458.1 + 32 5145 c.5065C>T c.(5065-5067)Cca>Tca p.P1689S UNC80_ENST00000272845.5_Missense_Mutation_p.P1684S NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 1689 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 GCTTGGAATGCCATCCGTCCC 0.498000 14 27 0 0 0.132662 0 0 NDRG2 57447 broad.mit.edu 37 14 21487897 21487897 + Missense_Mutation SNP T T A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr14:21487897T>A ENST00000556147.1 - 10 1557 c.617A>T c.(616-618)gAg>gTg p.E206V NDRG2_ENST00000397858.1_Missense_Mutation_p.E206V|NDRG2_ENST00000403829.3_Missense_Mutation_p.E202V|NDRG2_ENST00000360463.3_Missense_Mutation_p.E192V|NDRG2_ENST00000553503.1_Missense_Mutation_p.E192V|NDRG2_ENST00000397855.3_Missense_Mutation_p.E163V|NDRG2_ENST00000298687.5_Missense_Mutation_p.E206V|NDRG2_ENST00000555158.1_Missense_Mutation_p.E192V|NDRG2_ENST00000350792.3_Missense_Mutation_p.E192V|NDRG2_ENST00000554143.1_Missense_Mutation_p.E192V|NDRG2_ENST00000397847.2_Missense_Mutation_p.E206V|NDRG2_ENST00000554104.1_Missense_Mutation_p.E119V|NDRG2_ENST00000298684.5_Missense_Mutation_p.E163V|NDRG2_ENST00000397853.3_Missense_Mutation_p.E206V|NDRG2_ENST00000397844.2_Missense_Mutation_p.E192V|NDRG2_ENST00000397851.2_Missense_Mutation_p.E206V|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000397856.3_Missense_Mutation_p.E192V Q9UN36 NDRG2_HUMAN NDRG family member 2 206 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) TCCAGAGAGCTCTTCCTGAAG 0.398000 7 35 0 0 0.029380 0 0 CENPW 387103 broad.mit.edu 37 6 126661425 126661425 + Silent SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr6:126661425G>T ENST00000368328.4 + 1 106 c.6G>T c.(4-6)gcG>gcT p.A2A CENPW_ENST00000368325.1_Silent_p.A2A|CENPW_ENST00000368326.1_Silent_p.A2A Q5EE01 CENPW_HUMAN centromere protein W 2 chromosome, centromeric region|nucleus DNA binding kidney(2)|large_intestine(1)|lung(3) 6 AGAGGATGGCGCTGTCGACCA 0.562000 37 69 1.76056e-25 2.54455e-25 0.124865 1 0 KANSL1L 151050 broad.mit.edu 37 2 211018966 211018966 + Missense_Mutation SNP T T A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:211018966T>A ENST00000281772.9 - 2 604 c.341A>T c.(340-342)tAt>tTt p.Y114F KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000418791.1_Missense_Mutation_p.Y114F|KANSL1L_ENST00000452086.1_Missense_Mutation_p.Y114F|KANSL1L_ENST00000457374.1_Missense_Mutation_p.Y114F NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 114 GCTGCCATTATACAGTATGTT 0.343000 13 27 0 0 0.132662 0 0 RABGGTA 5875 broad.mit.edu 37 14 24737810 24737810 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr14:24737810C>T ENST00000399409.3 - 9 1399 c.916G>A c.(916-918)Gct>Act p.A306T RABGGTA_ENST00000216840.6_Missense_Mutation_p.A306T|RABGGTA_ENST00000560777.1_Intron NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 306 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) AGGGAGGCAGCAGGCAGGTCA 0.542000 37 57 0 0 0.092188 0 0 MKL1 57591 broad.mit.edu 37 22 40819642 40819642 + Silent SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr22:40819642G>A ENST00000396617.3 - 9 1115 c.525C>T c.(523-525)ttC>ttT p.F175F MKL1_ENST00000407029.1_Silent_p.F175F|MKL1_ENST00000355630.3_Silent_p.F175F|MKL1_ENST00000402042.1_Intron Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 175 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GCTCTGCCAGGAAAAGCATTT 0.582000 T RBM15 acute megakaryocytic leukemia 20 67 0 0 0.062417 0 0 ZWINT 11130 broad.mit.edu 37 10 58118400 58118400 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr10:58118400C>T ENST00000373944.3 - 7 747 c.709G>A c.(709-711)Gat>Aat p.D237N ZWINT_ENST00000361148.6_Missense_Mutation_p.D190N|ZWINT_ENST00000395405.1_Missense_Mutation_p.D237N|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000318387.2_Missense_Mutation_p.D117N O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 237 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 GGTTTATCATCTGGAAGATTC 0.532000 24 30 0 0 0.083992 0 0 MARCH6 10299 broad.mit.edu 37 5 10426547 10426547 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:10426547C>T ENST00000274140.5 + 24 2551 c.2419C>T c.(2419-2421)Cgt>Tgt p.R807C MARCH6_ENST00000449913.2_Missense_Mutation_p.R759C|MARCH6_ENST00000510792.1_Missense_Mutation_p.R505C|MARCH6_ENST00000503788.1_Missense_Mutation_p.R702C NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 807 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 CTATATTGTTCGTAAACTGGC 0.413000 84 424 0 0 0.139131 0 0 DUSP27 92235 broad.mit.edu 37 1 167096077 167096077 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:167096077C>A ENST00000361200.2 + 6 1875 c.1709C>A c.(1708-1710)cCc>cAc p.P570H DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P570H|DUSP27_ENST00000443333.1_Missense_Mutation_p.P570H Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 570 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGCGGTGAGCCCGGTGCAGAG 0.552000 28 72 1.5548e-18 2.14655e-18 0.108266 1 0 LOXHD1 125336 broad.mit.edu 37 18 44109192 44109192 + Missense_Mutation SNP T T A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr18:44109192T>A ENST00000536736.1 - 29 4477 c.4478A>T c.(4477-4479)gAg>gTg p.E1493V LOXHD1_ENST00000441893.2_Missense_Mutation_p.E426V|LOXHD1_ENST00000441551.2_Missense_Mutation_p.E1287V|LOXHD1_ENST00000579038.1_Missense_Mutation_p.E286V|LOXHD1_ENST00000300591.6_Missense_Mutation_p.E382V|LOXHD1_ENST00000398722.4_Missense_Mutation_p.E1215V|LOXHD1_ENST00000582408.1_Missense_Mutation_p.E382V NM_144612.6 NP_653213.6 Q8IVV2 LOXH1_HUMAN lipoxygenase homology domains 1 1215 PLAT 11. sensory perception of sound stereocilium protein binding NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1) 36 AAGGTATCGCTCCCCAGTGTC 0.577000 6 12 0 0 0.038147 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 90 0 0 0.029380 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6285 6285 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chrM:6285G>A ENST00000361624.2 + 1 382 c.382G>A c.(382-384)Gtc>Atc p.128_128insI mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CAGGTTGAACAGTCTACCCTC 0.532000 631 1055 0 0 0.139131 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79609710 79609710 + Silent SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:79609710G>A ENST00000263849.4 + 6 675 c.573G>A c.(571-573)ccG>ccA p.P191P ZC2HC1A_ENST00000521176.1_3'UTR NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 191 CACGATTACCGCAGCCAAGTG 0.383000 30 68 0 0 0.059317 0 0 CFHR1 3078 broad.mit.edu 37 1 196796124 196796124 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:196796124G>A ENST00000320493.5 + 3 507 c.419G>A c.(418-420)tGc>tAc p.C140Y CFHR1_ENST00000367424.3_Missense_Mutation_p.C140Y|CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 140 Sushi 2. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 CCTCCCAAATGCAGGTCCACT 0.373000 5 166 0 0 0.021553 0 0 ANAPC7 51434 broad.mit.edu 37 12 110819628 110819628 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:110819628C>A ENST00000455511.3 - 8 1163 c.1163G>T c.(1162-1164)aGa>aTa p.R388I ANAPC7_ENST00000450008.2_Missense_Mutation_p.R388I NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 388 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 TTCTTGGACTCTGCCCATGTT 0.473000 3 35 0.115264 0.118466 0.115264 1 0 APBB2 323 broad.mit.edu 37 4 40832537 40832537 + Silent SNP A A G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:40832537A>G ENST00000295974.8 - 13 2213 c.1584T>C c.(1582-1584)ttT>ttC p.F528F APBB2_ENST00000508593.1_Silent_p.F529F|APBB2_ENST00000506352.1_Silent_p.F507F|APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000513140.1_Silent_p.F507F|APBB2_ENST00000504305.1_5'UTR NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 528 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 TGTCACATCGAAATACATGAC 0.428000 34 69 0 0 0.074837 0 0 GPR158 57512 broad.mit.edu 37 10 25885717 25885717 + Splice_Site SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr10:25885717G>A ENST00000376351.3 + 10 2503 c.2145_splice c.e10+1 p.R715_splice GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 715 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAGGACATTCGGGTAATGCCA 0.488000 24 48 0 0 0.125774 0 0 MIR4485 100616263 broad.mit.edu 37 MT 2652 2652 + RNA SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chrM:2652G>A ENST00000387347.2 + 0 982 NR_039705.1 cacgagggttcagctgtctct 0.463000 11 1655 0 0 0.021553 0 0 SLFN11 91607 broad.mit.edu 37 17 33690515 33690515 + Nonsense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:33690515G>T ENST00000394566.1 - 4 584 c.312C>A c.(310-312)taC>taA p.Y104* SLFN11_ENST00000308377.4_Nonsense_Mutation_p.Y104* NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 104 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TAACAAAAATGTAAAAACACC 0.448000 20 48 7.45023e-12 9.37613e-12 0.055883 1 0 CSMD3 114788 broad.mit.edu 37 8 113518959 113518959 + Missense_Mutation SNP G G C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:113518959G>C ENST00000297405.5 - 29 5100 c.4856C>G c.(4855-4857)aCc>aGc p.T1619S CSMD3_ENST00000343508.3_Missense_Mutation_p.T1579S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1619S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1515S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1619 CUB 9. 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 TGCATTGACGGTGATAGTCCA 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 43 108 0 0 0.139131 0 0 CHD5 26038 broad.mit.edu 37 1 6185838 6185838 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:6185838G>T ENST00000262450.3 - 27 4258 c.4159C>A c.(4159-4161)Ccg>Acg p.P1387T CHD5_ENST00000378021.1_Missense_Mutation_p.P244T NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1387 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TGCCCTTCCGGCCTCTCTTCA 0.582000 43 95 2.24059e-37 3.31607e-37 0.139131 1 0 PPP4C 5531 broad.mit.edu 37 16 30094792 30094792 + Silent SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:30094792C>T ENST00000279387.7 + 6 549 c.381C>T c.(379-381)taC>taT p.Y127Y PPP4C_ENST00000561610.1_Silent_p.Y127Y NM_002720.1 NP_002711.1 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 127 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1) 9 ATGGCTTCTACGATGAGTGCC 0.572000 11 56 0 0 0.080935 0 0 TPD52L2 7165 broad.mit.edu 37 20 62505074 62505074 + Silent SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr20:62505074C>T ENST00000217121.5 + 3 291 c.219C>T c.(217-219)caC>caT p.H73H TPD52L2_ENST00000369927.4_Silent_p.H50H|TPD52L2_ENST00000352482.4_Silent_p.H73H|TPD52L2_ENST00000351424.4_Silent_p.H73H|TPD52L2_ENST00000358548.4_Silent_p.H73H|TPD52L2_ENST00000348257.5_Silent_p.H73H|TPD52L2_ENST00000346249.4_Silent_p.H73H NM_199360.2 NP_955392.1 O43399 TPD54_HUMAN tumor protein D52-like 2 73 regulation of cell proliferation perinuclear region of cytoplasm protein binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) AGGAGAGGCACTGTGGAGAGC 0.582000 3 15 0 0 0.115264 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17939562 17939562 + Missense_Mutation SNP G G C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:17939562G>C ENST00000361221.3 + 8 778 c.619G>C c.(619-621)Gac>Cac p.D207H ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D207H|ARHGEF10L_ENST00000375420.3_Intron|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000375415.1_Intron NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 207 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GCTTTCTCCAGACCTGACTAG 0.547000 23 38 0 0 0.108266 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21938055 21938055 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:21938055C>A ENST00000542643.2 - 14 1035 c.733G>T c.(733-735)Gtg>Ttg p.V245L RAP1GAP_ENST00000374761.2_Missense_Mutation_p.V276L|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.V245L|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.V309L|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.V245L NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 245 Rap-GAP. regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) CCGTGGGTCACGTCCAGGCCT 0.662000 23 26 2.44723e-14 3.21091e-14 0.099896 1 0 MYH9 4627 broad.mit.edu 37 22 36737457 36737457 + Missense_Mutation SNP T T A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr22:36737457T>A ENST00000216181.5 - 3 678 c.448A>T c.(448-450)Atc>Ttc p.I150F MYH9_ENST00000401701.1_Missense_Mutation_p.I150F NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 150 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 ATGGCATAGATGTGAGGGGGC 0.522000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 27 71 0 0 0.108266 0 0 SCARF1 8578 broad.mit.edu 37 17 1543283 1543283 + Silent SNP G G C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:1543283G>C ENST00000263071.4 - 6 1111 c.1062C>G c.(1060-1062)acC>acG p.T354T SCARF1_ENST00000571272.1_Silent_p.T354T|SCARF1_ENST00000348987.3_Intron NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 354 EGF-like 6. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGTGGGGCAGGTAGAGCCAC 0.647000 7 16 0 0 0.038147 0 0 LARP4B 23185 broad.mit.edu 37 10 909732 909732 + Silent SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr10:909732G>A ENST00000316157.3 - 4 421 c.381C>T c.(379-381)ctC>ctT p.L127L NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 127 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 GACCCAGAGCGAGAGCGTTCA 0.507000 16 177 0 0 0.132662 0 0 PLS1 5357 broad.mit.edu 37 3 142402909 142402909 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:142402909G>T ENST00000337777.3 + 7 854 c.641G>T c.(640-642)gGt>gTt p.G214V PLS1_ENST00000497002.1_Missense_Mutation_p.G214V|PLS1_ENST00000457734.2_Missense_Mutation_p.G214V NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 214 Actin-binding 1.|CH 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 GTCAACATTGGTGCATCAGAT 0.408000 39 94 2.59497e-14 3.38077e-14 0.098360 1 0 RBFOX1 54715 broad.mit.edu 37 16 7645633 7645633 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:7645633G>T ENST00000340209.4 + 5 863 c.566G>T c.(565-567)cGt>cTt p.R189L RBFOX1_ENST00000311745.5_Missense_Mutation_p.R204L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.R227L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R204L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R227L|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R184L|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R184L|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R184L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R201L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R204L Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 184 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GTAGAGGGCCGTAAAATCGAG 0.458000 50 95 5.22555e-25 7.49401e-25 0.139131 1 0 KRTAP9-2 83899 broad.mit.edu 37 17 39383275 39383275 + Silent SNP C C G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:39383275C>G ENST00000377721.3 + 1 376 c.369C>G c.(367-369)ccC>ccG p.P123P KRTAP9-2_ENST00000455970.2_Silent_p.P107P NM_031961.2 NP_114167.2 Q9BYQ4 KRA92_HUMAN keratin associated protein 9-2 123 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTACTACCCCACGACTGTCT 0.627000 4 209 0 0 0.009096 0 0 COMMD10 51397 broad.mit.edu 37 5 115428253 115428253 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:115428253C>A ENST00000274458.4 + 4 317 c.255C>A c.(253-255)caC>caA p.H85Q COMMD10_ENST00000515539.1_Missense_Mutation_p.H71Q NM_016144.2 NP_057228.1 Q9Y6G5 COMDA_HUMAN COMM domain containing 10 85 protein binding endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2) 9 all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05) CAGTGTATCACAATGTGAAGC 0.333000 26 30 9.39395e-14 1.20686e-13 0.116897 1 0 METTL14 57721 broad.mit.edu 37 4 119626964 119626964 + Missense_Mutation SNP A A G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:119626964A>G ENST00000388822.4 + 10 1221 c.1054A>G c.(1054-1056)Aca>Gca p.T352A METTL14_ENST00000506780.1_Missense_Mutation_p.T314A Q9HCE5 MTL14_HUMAN methyltransferase like 14 352 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 AAGAGATAGTACAATTCGACC 0.343000 32 62 0 0 0.050027 0 0 STS 412 broad.mit.edu 37 X 7177623 7177623 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chrX:7177623G>T ENST00000217961.4 + 5 851 c.631G>T c.(631-633)Gtg>Ttg p.V211L NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 211 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GCTACTCCACGTGCCTCTAGG 0.552000 Ichthyosis 33 31 1.22384e-17 1.66478e-17 0.054565 1 0 ACTR3C 653857 broad.mit.edu 37 7 149983569 149983569 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr7:149983569G>T ENST00000539352.1 - 5 609 c.358C>A c.(358-360)Ccc>Acc p.P120T ACTR3C_ENST00000252071.4_Missense_Mutation_p.P120T NM_001164458.1 NP_001157930.1 Q9C0K3 ARP3C_HUMAN ARP3 actin-related protein 3 homolog C (yeast) 120 regulation of actin filament polymerization cytoskeleton actin binding|ATP binding CACTTCTGGGGATCCACATCA 0.413000 25 50 1.64293e-13 2.09616e-13 0.083992 1 0 NMBR 4829 broad.mit.edu 37 6 142399730 142399730 + Missense_Mutation SNP T T G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr6:142399730T>G ENST00000258042.1 - 2 873 c.733A>C c.(733-735)Aat>Cat p.N245H NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 245 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CCAGGAAGATTGTGTGCGCTT 0.358000 18 18 0 0 0.043863 0 0 USB1 79650 broad.mit.edu 37 16 58043944 58043944 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:58043944G>T ENST00000219281.3 + 3 488 c.377G>T c.(376-378)aGt>aTt p.S126I USB1_ENST00000539737.2_Missense_Mutation_p.S126I|USB1_ENST00000561743.1_Missense_Mutation_p.S75I|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000563149.1_Missense_Mutation_p.S126I|USB1_ENST00000423271.3_Missense_Mutation_p.S126I NM_024598.3 NP_078874.2 U6 snRNA biogenesis 1 CTGTCCCAGAGTGTGGTTCTG 0.582000 17 53 3.8784e-16 5.1619e-16 0.062417 1 0 MYH11 4629 broad.mit.edu 37 16 15850278 15850278 + Missense_Mutation SNP G G C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:15850278G>C ENST00000338282.6 - 14 1775 c.1669C>G c.(1669-1671)Cag>Gag p.Q557E MYH11_ENST00000576790.1_Missense_Mutation_p.Q557E|MYH11_ENST00000300036.5_Missense_Mutation_p.Q557E|MYH11_ENST00000396324.3_Missense_Mutation_p.Q564E|MYH11_ENST00000452625.2_Missense_Mutation_p.Q564E NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 557 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.Q557_S559delQGS(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TGGCTGCCCTGCTCCGTGCAC 0.587000 T CBFB AML OREG0023636 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 19 0 0 0.069234 0 0 OR4C15 81309 broad.mit.edu 37 11 55322156 55322156 + Missense_Mutation SNP G G T rs150289014 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr11:55322156G>T ENST00000314644.2 + 1 374 c.374G>T c.(373-375)tGc>tTc p.C125F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CTGGATGCGTGCTTCTCATCT 0.478000 HNSCC(20;0.049) 99 129 9.27813e-46 1.39549e-45 0.139131 1 0 POMC 5443 broad.mit.edu 37 2 25384268 25384268 + Silent SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:25384268G>A ENST00000405623.1 - 3 941 c.486C>T c.(484-486)aaC>aaT p.N162N POMC_ENST00000380794.1_Silent_p.N162N|POMC_ENST00000264708.3_Silent_p.N162N|POMC_ENST00000395826.2_Silent_p.N162N P01189 COLI_HUMAN proopiomelanocortin 162 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) CCTCGGCGCCGTTAGGGTACA 0.706000 5 15 0 0 0.029380 0 0 HCN1 348980 broad.mit.edu 37 5 45262664 45262664 + Silent SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:45262664G>A ENST00000303230.4 - 8 2089 c.2032C>T c.(2032-2034)Ctg>Ttg p.L678L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 678 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GGGGAGTGCAGGTTGCTGTGA 0.617000 11 21 0 0 0.043863 0 0 MAGOHB 55110 broad.mit.edu 37 12 10763255 10763255 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:10763255C>T ENST00000320756.2 - 2 209 c.119G>A c.(118-120)aGc>aAc p.S40N MAGOHB_ENST00000539554.1_5'UTR|MAGOHB_ENST00000381881.2_Missense_Mutation_p.S40N NM_018048.3 NP_060518.1 Q96A72 MGN2_HUMAN mago-nashi homolog B (Drosophila) 40 mRNA processing|mRNA transport|RNA splicing nucleus RNA binding breast(2)|large_intestine(2) 4 TTTGTAATTGCTGTTGTTGGC 0.269000 11 23 0 0 0.105934 0 0 ABCC9 10060 broad.mit.edu 37 12 22063913 22063913 + Splice_Site SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:22063913C>T ENST00000261200.4 - 7 1011 c.e7-1 ABCC9_ENST00000345162.2_Splice_Site|ABCC9_ENST00000261201.4_Splice_Site NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTTCTGAAATCTGGTCCCCAA 0.333000 31 59 0 0 0.144211 0 0 RBBP6 5930 broad.mit.edu 37 16 24581297 24581297 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:24581297G>A ENST00000319715.4 + 17 3718 c.3286G>A c.(3286-3288)Gca>Aca p.A1096T RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.A1062T NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1096 Interaction with RB1 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CTCTAAATCAGCAAAAGAACA 0.378000 3 43 0 0 0.115264 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 4 89 0 0 0.047766 0 0 CDKL2 8999 broad.mit.edu 37 4 76525509 76525509 + Silent SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:76525509C>T ENST00000429927.2 - 7 1543 c.840G>A c.(838-840)gaG>gaA p.E280E CDKL2_ENST00000307465.4_Silent_p.E280E NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 280 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GGTGTAGGAGCTCAGCACAGA 0.373000 19 33 0 0 0.049695 0 0 ART5 116969 broad.mit.edu 37 11 3660107 3660107 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr11:3660107G>T ENST00000397067.3 - 4 788 c.659C>A c.(658-660)cCc>cAc p.P220H ART5_ENST00000359918.4_Intron|ART5_ENST00000397068.3_Intron Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 217 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTCCAGGGGGGCAGAGAGGA 0.612000 7 5 0.0293803 0.0305357 0.029380 1 0 MT-CO2 4513 broad.mit.edu 37 MT 7589 7589 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chrM:7589G>A ENST00000361739.1 + 1 4 c.4G>A c.(4-6)Gca>Aca p.A2T mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 ATATCTTAATGGCACATGCAG 0.373000 60 1213 0 0 0.069456 0 0 FAM27L 284123 broad.mit.edu 37 17 21825450 21825450 + RNA SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:21825450G>T ENST00000426869.3 + 0 154 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) cttctccacggggtacacagg 0.627000 9 18 2.17888e-05 2.48822e-05 0.058154 1 0 NACA 4666 broad.mit.edu 37 12 57114590 57114590 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:57114590C>T ENST00000454682.1 - 3 1005 c.724G>A c.(724-726)Gct>Act p.A242T NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.A242T|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 17 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGAGGGGAAGCGATGGCTAGG 0.522000 T BCL6 NHL 23 162 0 0 0.059317 0 0 FCGBP 8857 broad.mit.edu 37 19 40366230 40366230 + Silent SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:40366230G>A ENST00000221347.6 - 30 14011 c.14004C>T c.(14002-14004)tgC>tgT p.C4668C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4668 VWFD 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGATCACGCCGCAGGCGTCCG 0.721000 3 16 0 0 0.115264 0 0 HLTF 6596 broad.mit.edu 37 3 148802652 148802652 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:148802652C>A ENST00000310053.5 - 2 238 c.45G>T c.(43-45)caG>caT p.Q15H HLTF_ENST00000481663.1_5'UTR|HLTF_ENST00000392912.2_Missense_Mutation_p.Q15H|HLTF_ENST00000465259.1_Missense_Mutation_p.Q15H|HLTF_ENST00000494055.1_Missense_Mutation_p.Q15H NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 15 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) ACTGGACAGTCTGCAAGTACT 0.348000 9 24 3.86212e-05 4.25293e-05 0.069234 1 0 RNF40 9810 broad.mit.edu 37 16 30779731 30779731 + Missense_Mutation SNP C C G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:30779731C>G ENST00000324685.6 + 13 2294 c.1859C>G c.(1858-1860)cCc>cGc p.P620R RNF40_ENST00000563683.1_Missense_Mutation_p.P580R|RNF40_ENST00000357890.5_Missense_Mutation_p.P520R|RNF40_ENST00000402121.3_Missense_Mutation_p.P312R NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 620 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) CGGGAAGGTCCCAGCCTAGGA 0.627000 5 23 0 0 0.021553 0 0 CR2 1380 broad.mit.edu 37 1 207646299 207646299 + Missense_Mutation SNP A A T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:207646299A>T ENST00000367057.3 + 10 1942 c.1753A>T c.(1753-1755)Acc>Tcc p.T585S CR2_ENST00000367058.3_Missense_Mutation_p.T585S|CR2_ENST00000367059.3_Missense_Mutation_p.T585S|CR2_ENST00000458541.2_Missense_Mutation_p.T558S NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 585 Sushi 9. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 AGAAAGAGGCACCTGGAGTGG 0.498000 21 44 0 0 0.076483 0 0 PLEC 5339 broad.mit.edu 37 8 144993686 144993686 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:144993686C>T ENST00000322810.4 - 32 10883 c.10714G>A c.(10714-10716)Ggc>Agc p.G3572S PLEC_ENST00000356346.3_Missense_Mutation_p.G3421S|PLEC_ENST00000436759.2_Missense_Mutation_p.G3462S|PLEC_ENST00000398774.2_Missense_Mutation_p.G3403S|PLEC_ENST00000354589.3_Missense_Mutation_p.G3435S|PLEC_ENST00000354958.2_Missense_Mutation_p.G3413S|PLEC_ENST00000357649.2_Missense_Mutation_p.G3439S|PLEC_ENST00000527096.1_Missense_Mutation_p.G3458S|PLEC_ENST00000345136.3_Missense_Mutation_p.G3435S NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3572 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCTCTGTAGCCGGTGACGGCC 0.677000 8 17 0 0 0.069234 0 0 CGN 57530 broad.mit.edu 37 1 151501959 151501959 + Missense_Mutation SNP G G C rs144821285 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:151501959G>C ENST00000271636.7 + 11 2163 c.2030G>C c.(2029-2031)cGg>cCg p.R677P NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 671 Glu-rich. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GATCGAGGTCGGGAGCTGGAA 0.627000 9 20 0 0 0.058154 0 0 LOXHD1 125336 broad.mit.edu 37 18 44109193 44109193 + Nonsense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr18:44109193C>A ENST00000536736.1 - 29 4476 c.4477G>T c.(4477-4479)Gag>Tag p.E1493* LOXHD1_ENST00000441893.2_Nonsense_Mutation_p.E426*|LOXHD1_ENST00000441551.2_Nonsense_Mutation_p.E1287*|LOXHD1_ENST00000579038.1_Nonsense_Mutation_p.E286*|LOXHD1_ENST00000300591.6_Nonsense_Mutation_p.E382*|LOXHD1_ENST00000398722.4_Nonsense_Mutation_p.E1215*|LOXHD1_ENST00000582408.1_Nonsense_Mutation_p.E382* NM_144612.6 NP_653213.6 Q8IVV2 LOXH1_HUMAN lipoxygenase homology domains 1 1215 PLAT 11. sensory perception of sound stereocilium protein binding NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1) 36 AGGTATCGCTCCCCAGTGTCC 0.572000 6 13 1.06961e-07 1.2524e-07 0.038147 1 0 LINC01410 103352539 broad.mit.edu 37 9 66458381 66458381 + RNA SNP C C T rs4471150 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr9:66458381C>T ENST00000424345.1 + 0 67 AGGCGCTCGCCCGTGCCCCCG 0.741000 4 9 0 0 0.009096 0 0 HEATR3 55027 broad.mit.edu 37 16 50128703 50128703 + Splice_Site SNP A A T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:50128703A>T ENST00000299192.7 + 12 1789 c.1599_splice c.e12+1 p.Q533_splice HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Splice_Site_p.Q447_splice NM_182922.2 NP_891552.1 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 533 binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 AACATTTCCCAGGTAAGAGTT 0.308000 16 86 0 0 0.033300 0 0 USP50 373509 broad.mit.edu 37 15 50836842 50836842 + Missense_Mutation SNP T T C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:50836842T>C ENST00000532404.1 - 2 363 c.190A>G c.(190-192)Agc>Ggc p.S64G USP50_ENST00000530218.1_Intron NM_203494.4 NP_987090.2 E9PP86 E9PP86_HUMAN ubiquitin specific peptidase 50 64 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5) 13 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) GGCAAGATGCTGCAGAGACAC 0.542000 28 48 0 0 0.108266 0 0 MCM3 4172 broad.mit.edu 37 6 52132735 52132735 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr6:52132735C>A ENST00000596288.1 - 14 2162 c.2135G>T c.(2134-2136)cGa>cTa p.R712L MCM3_ENST00000229854.7_Missense_Mutation_p.R667L|MCM3_ENST00000419835.2_Missense_Mutation_p.R621L NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 667 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) atcctcacttcgcttcttacg 0.498000 21 7 2.4624e-09 2.97741e-09 0.049695 1 0 SPTY2D1 144108 broad.mit.edu 37 11 18637460 18637460 + Nonsense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr11:18637460G>A ENST00000336349.5 - 3 596 c.361C>T c.(361-363)Cga>Tga p.R121* SPTY2D1_ENST00000543776.1_5'UTR NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 121 p.R121R(1) breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 TCATACTCTCGGTCGGTTCCT 0.448000 24 24 0 0 0.108266 0 0 POLDIP3 84271 broad.mit.edu 37 22 42988052 42988052 + Silent SNP T T A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr22:42988052T>A ENST00000252115.5 - 7 1034 c.930A>T c.(928-930)cgA>cgT p.R310R POLDIP3_ENST00000348657.2_Silent_p.R281R|POLDIP3_ENST00000451060.2_Silent_p.R154R|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 310 RRM. positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 GATGGACCAGTCGAGCTCGCT 0.542000 42 89 0 0 0.124865 0 0 NCOA5 57727 broad.mit.edu 37 20 44698943 44698943 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr20:44698943G>A ENST00000290231.6 - 3 435 c.271C>T c.(271-273)Cgt>Tgt p.R91C NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 91 Arg/Asp-rich (mixed charge).|Transcription repression. 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) CTTAGATCACGAAAGTCTCTA 0.512000 112 111 0 0 0.139131 0 0 BTK 695 broad.mit.edu 37 X 100609683 100609683 + Splice_Site SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chrX:100609683C>A ENST00000308731.7 - 16 1730 c.e16-1 BTK_ENST00000372880.1_Splice_Site NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTCGAGCTGCCTGTAGTGCAA 0.483000 Agammaglobulinemia, X-linked 68 30 9.21137e-24 1.31085e-23 0.139131 1 0 SV2B 9899 broad.mit.edu 37 15 91769847 91769847 + Silent SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:91769847C>A ENST00000394232.1 + 2 824 c.354C>A c.(352-354)gcC>gcA p.A118A SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Silent_p.A118A NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 118 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TGGGTTTGGCCCTGATGGCCG 0.537000 18 47 2.94398e-08 3.51379e-08 0.043863 1 0 TSIX 9383 broad.mit.edu 37 X 73042835 73042835 + RNA SNP A A T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chrX:73042835A>T ENST00000604411.1 + 0 30796 XIST_ENST00000429829.1_lincRNA NR_003255.2 ACTTAAGAACAGCACTTTATT 0.313000 13 24 0 0 0.093190 0 0 SEMA5A 9037 broad.mit.edu 37 5 9052051 9052051 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:9052051C>A ENST00000382496.5 - 20 3444 c.2779G>T c.(2779-2781)Ggc>Tgc p.G927C NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 927 TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CACTGGCTGCCCATGGGGAAC 0.567000 6 16 0.0215528 0.0225269 0.021553 1 0 PTPN11 5781 broad.mit.edu 37 12 112926888 112926888 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:112926888G>T ENST00000351677.2 + 13 1706 c.1508G>T c.(1507-1509)gGg>gTg p.G503V NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 507 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.G503A(12)|p.G503V(8)|p.G503E(2)|p.G503L(1) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 CAGAGGTCAGGGATGGTCCAG 0.468000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 149 314 5.54423e-67 8.40723e-67 0.139131 1 0 SV2B 9899 broad.mit.edu 37 15 91769848 91769848 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:91769848C>A ENST00000394232.1 + 2 825 c.355C>A c.(355-357)Ctg>Atg p.L119M SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.L119M NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 119 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GGGTTTGGCCCTGATGGCCGA 0.537000 19 47 4.96729e-08 5.8907e-08 0.049695 1 0 NCOA5 57727 broad.mit.edu 37 20 44695708 44695708 + Silent SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr20:44695708G>A ENST00000290231.6 - 5 779 c.615C>T c.(613-615)gtC>gtT p.V205V NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 205 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) TCTGTTTGTTGACCACAATCA 0.438000 108 75 0 0 0.139131 0 0 HOOK1 51361 broad.mit.edu 37 1 60314856 60314856 + Splice_Site SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:60314856G>T ENST00000371208.3 + 12 1499 c.e12+1 HOOK1_ENST00000395561.2_Splice_Site|HOOK1_ENST00000465876.1_Splice_Site NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) GGAAAAAGAGGTAAACATAGA 0.358000 15 32 0.000219431 0.000240206 0.119110 1 0 FAM182A 284800 broad.mit.edu 37 20 26063993 26063993 + RNA SNP A A G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr20:26063993A>G ENST00000376398.2 + 0 1510 NR_026713.1 breast(1)|endometrium(2)|kidney(1) 4 CTGAGACTTGATGTTTAATAT 0.557000 2 3 0 0 0.014758 0 0 LGALS9B 284194 broad.mit.edu 37 17 20361549 20361549 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:20361549G>T ENST00000423676.3 - 3 343 c.280C>A c.(280-282)Cag>Aag p.Q94K LGALS9B_ENST00000324290.5_Missense_Mutation_p.Q94K Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B 94 Galectin 1. sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 ATCCCCTTCTGGAAGGGCATG 0.587000 14 74 2.21704e-12 2.80926e-12 0.076483 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85459116 85459116 + Missense_Mutation SNP T T C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:85459116T>C ENST00000393217.2 + 9 2529 c.2468T>C c.(2467-2469)cTa>cCa p.L823P NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 823 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) CTTCAGTTTCTATCCCTTCGA 0.413000 34 92 0 0 0.064281 0 0 CLDN16 10686 broad.mit.edu 37 3 190122610 190122610 + Missense_Mutation SNP T T C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:190122610T>C ENST00000264734.2 + 3 735 c.487T>C c.(487-489)Ttt>Ctt p.F163L CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 163 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) TGGGTTTGGATTTCTCACCCT 0.473000 22 45 0 0 0.069288 0 0 HIST2H2BB 338391 broad.mit.edu 37 1 149375106 149375106 + RNA SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:149375106G>A ENST00000415338.1 - 0 1061 CTTTACTATCGAAATGGCAAA 0.468000 6 141 0 0 0.029380 0 0 DLC1 10395 broad.mit.edu 37 8 12952701 12952701 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:12952701C>T ENST00000276297.4 - 11 3630 c.3221G>A c.(3220-3222)aGt>aAt p.S1074N DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.S563N|DLC1_ENST00000358919.2_Missense_Mutation_p.S637N|DLC1_ENST00000512044.2_Missense_Mutation_p.S671N NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1074 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CCCAAACACACTCCGGTCCTT 0.552000 30 54 0 0 0.144211 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463677 25463677 + RNA SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:25463677C>A ENST00000424208.1 + 0 2960 SNHG14_ENST00000453082.2_RNA NR_003305.1 CCAGCCCTTCCTGGTGCCCTG 0.597000 6 17 3.59834e-05 3.98618e-05 0.021553 1 0 ZNF98 148198 broad.mit.edu 37 19 22586297 22586297 + Silent SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:22586297C>T ENST00000357774.5 - 2 169 c.48G>A c.(46-48)agG>agA p.R16R ZNF98_ENST00000601553.1_Silent_p.R16R NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 16 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R16S(2) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) AGGCCACATCCCTAAATGTCA 0.393000 26 35 0 0 0.108266 0 0 SETBP1 26040 broad.mit.edu 37 18 42532248 42532248 + Silent SNP A A T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr18:42532248A>T ENST00000282030.5 + 4 3239 c.2943A>T c.(2941-2943)ccA>ccT p.P981P NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 981 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ACGAGAATCCATATCCCAGCA 0.463000 Schinzel-Giedion syndrome 48 86 0 0 0.139131 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19362892 19362892 + Missense_Mutation SNP T T C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:19362892T>C ENST00000454498.2 - 4 1467 c.454A>G c.(454-456)Act>Gct p.T152A CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.T152A|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.T152A|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.T152A|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.T152A NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 152 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) TTCTGTAGAGTAAAGCTATCG 0.577000 30 52 0 0 0.144211 0 0 CLEC16A 23274 broad.mit.edu 37 16 11133665 11133665 + Missense_Mutation SNP A A T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:11133665A>T ENST00000409790.1 + 14 1822 c.1592A>T c.(1591-1593)gAg>gTg p.E531V CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.E513V NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 531 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AATGCGGCCGAGAAGACCACC 0.557000 15 20 0 0 0.033300 0 0 NRXN1 9378 broad.mit.edu 37 2 51255230 51255230 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:51255230C>A ENST00000404971.1 - 2 1521 c.182G>T c.(181-183)cGc>cTc p.R61L NRXN1_ENST00000405581.1_Missense_Mutation_p.R61L|NRXN1_ENST00000402717.3_Missense_Mutation_p.R61L|NRXN1_ENST00000405472.3_Missense_Mutation_p.R61L|NRXN1_ENST00000406316.2_Missense_Mutation_p.R61L|NRXN1_ENST00000401669.2_Missense_Mutation_p.R61L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R61L NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 61 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCGGGCGCTGCGAGTCTTGAG 0.672000 3 7 0.004672 0.00496736 0.115264 1 0 DOCK10 55619 broad.mit.edu 37 2 225681357 225681357 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:225681357G>T ENST00000409592.3 - 30 3436 c.3323C>A c.(3322-3324)cCc>cAc p.P1108H DOCK10_ENST00000258390.7_Missense_Mutation_p.P1114H Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1114 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGATCTTATGGGCAGACACAA 0.348000 15 53 2.32078e-09 2.84335e-09 0.132662 1 0 ACSL6 23305 broad.mit.edu 37 5 131310521 131310521 + Nonsense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:131310521C>T ENST00000379244.1 - 11 1159 c.923G>A c.(922-924)tGg>tAg p.W308* ACSL6_ENST00000544770.1_Intron|ACSL6_ENST00000543479.1_Nonsense_Mutation_p.W308*|ACSL6_ENST00000379272.2_Intron|ACSL6_ENST00000379240.1_Intron|ACSL6_ENST00000296869.4_Nonsense_Mutation_p.W333*|ACSL6_ENST00000431707.1_Intron|ACSL6_ENST00000379249.3_Nonsense_Mutation_p.W308*|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000379246.1_Intron|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379264.2_Intron Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 308 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGTGGGAGCCCACTGACTCTG 0.532000 7 14 0 0 0.038147 0 0 OR11L1 391189 broad.mit.edu 37 1 248004459 248004459 + Missense_Mutation SNP A A G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:248004459A>G ENST00000355784.2 - 1 795 c.740T>C c.(739-741)gTt>gCt p.V247A NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAGAGTGACAACAGCCAGGTG 0.498000 36 79 0 0 0.092188 0 0 ACP6 51205 broad.mit.edu 37 1 147120191 147120191 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:147120191G>A ENST00000369238.5 - 9 1447 c.1000C>T c.(1000-1002)Cat>Tat p.H334Y ACP6_ENST00000460583.1_5'UTR NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 334 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) GTCACATCATGAGCCGCATAG 0.498000 28 176 0 0 0.050027 0 0 OC90 729330 broad.mit.edu 37 8 133067293 133067293 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:133067293G>T ENST00000262283.5 - 5 668 c.569C>A c.(568-570)cCc>cAc p.P190H OC90_ENST00000603859.1_5'UTR|OC90_ENST00000443356.2_5'UTR|OC90_ENST00000254627.3_5'UTR Q02509 OC90_HUMAN otoconin 90 0 Phospholipase A2-like 1. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) ACAAAGGATGGGGCTTAGGCA 0.498000 4 20 0.00024832 0.000270231 0.009096 1 0 CECR1 51816 broad.mit.edu 37 22 17690382 17690382 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr22:17690382C>A ENST00000399839.1 - 2 456 c.186G>T c.(184-186)agG>agT p.R62S CECR1_ENST00000399837.2_Missense_Mutation_p.R62S|CECR1_ENST00000449907.2_Missense_Mutation_p.R20S|CECR1_ENST00000262607.3_Missense_Mutation_p.R62S Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 62 Dimerization. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GCGTCATGAGCCTCTCATTGG 0.532000 16 25 3.45872e-05 3.87796e-05 0.146539 1 0 SACS 26278 broad.mit.edu 37 13 23910183 23910183 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr13:23910183G>T ENST00000382298.3 - 10 8420 c.7832C>A c.(7831-7833)aCg>aAg p.T2611K SACS_ENST00000382292.3_Missense_Mutation_p.T2611K|SACS_ENST00000402364.1_Missense_Mutation_p.T1861K NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2611 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCCCTCTTTCGTGCCTTTTCC 0.413000 8 42 0.000274275 0.000295005 0.047766 1 0 C3AR1 719 broad.mit.edu 37 12 8211392 8211392 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:8211392G>A ENST00000307637.4 - 2 1593 c.1390C>T c.(1390-1392)Cgt>Tgt p.R464C NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 464 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) TGGGTGGAACGTGTGAGCTCC 0.468000 28 177 0 0 0.108266 0 0 PLS1 5357 broad.mit.edu 37 3 142402908 142402908 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:142402908G>T ENST00000337777.3 + 7 853 c.640G>T c.(640-642)Ggt>Tgt p.G214C PLS1_ENST00000497002.1_Missense_Mutation_p.G214C|PLS1_ENST00000457734.2_Missense_Mutation_p.G214C NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 214 Actin-binding 1.|CH 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 GGTCAACATTGGTGCATCAGA 0.408000 40 93 4.16155e-14 5.38382e-14 0.104719 1 0 ACP6 51205 broad.mit.edu 37 1 147120177 147120177 + Silent SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:147120177G>A ENST00000369238.5 - 9 1461 c.1014C>T c.(1012-1014)ttC>ttT p.F338F ACP6_ENST00000460583.1_5'UTR NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 338 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) AGAGCGGTATGAAGGTCACAT 0.493000 31 171 0 0 0.059317 0 0 ILKAP 80895 broad.mit.edu 37 2 239082240 239082240 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:239082240C>A ENST00000254654.3 - 10 1066 c.891G>T c.(889-891)caG>caT p.Q297H NM_030768.2 NP_110395.1 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated serine/threonine phosphatase 297 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) AGCGCTTGTACTGCCCGTCCC 0.542000 5 12 3.59834e-05 3.98618e-05 0.021553 1 0 OR8H3 390152 broad.mit.edu 37 11 55890174 55890174 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr11:55890174C>A ENST00000313472.3 + 1 326 c.326C>A c.(325-327)aCt>aAt p.T109N NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TTCTTGGGTACTGCTGAATGT 0.458000 79 104 7.14593e-30 1.0492e-29 0.139131 1 0 LINC01410 103352539 broad.mit.edu 37 9 66459850 66459850 + RNA SNP T T A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr9:66459850T>A ENST00000424345.1 + 0 110 ggtgaggtcatgttttcctgg 0.363000 3 29 0 0 0.009096 0 0 PHLDB2 90102 broad.mit.edu 37 3 111637972 111637972 + Missense_Mutation SNP A A T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:111637972A>T ENST00000431670.2 + 4 2184 c.1773A>T c.(1771-1773)gaA>gaT p.E591D PHLDB2_ENST00000481953.1_Missense_Mutation_p.E591D|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E177D|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E591D|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E618D|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E591D NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 591 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CTGCAATGGAAGAAACCCGGA 0.403000 104 187 0 0 0.139131 0 0 GGH 8836 broad.mit.edu 37 8 63948311 63948311 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:63948311C>T ENST00000260118.6 - 2 530 c.128G>A c.(127-129)tGc>tAc p.C43Y NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 43 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) TTTATTACGGCATTTTTGCAT 0.328000 25 59 0 0 0.083992 0 0 TEAD3 7005 broad.mit.edu 37 6 35444189 35444189 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr6:35444189G>A ENST00000338863.7 - 9 843 c.616C>T c.(616-618)Ccc>Tcc p.P206S TEAD3_ENST00000402886.3_Missense_Mutation_p.P146S NM_003214.3 NP_003205.2 Q99594 TEAD3_HUMAN TEA domain family member 3 206 Pro-rich.|Transcriptional activation (Potential). female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 GCAGCTGAGGGGAGCGGGGCC 0.602000 43 23 0 0 0.139131 0 0 CD1E 913 broad.mit.edu 37 1 158324234 158324234 + Silent SNP T T G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:158324234T>G ENST00000368160.3 + 2 126 c.126T>G c.(124-126)acT>acG p.T42T CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Silent_p.T42T|CD1E_ENST00000368163.3_Silent_p.T42T|CD1E_ENST00000434258.1_Silent_p.T40T|CD1E_ENST00000368167.3_Silent_p.T42T|CD1E_ENST00000368155.3_Silent_p.T42T|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368165.3_Silent_p.T42T|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Silent_p.T42T NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 42 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TGCTCCAAACTTCCTCCTTTG 0.557000 14 221 0 0 0.119110 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85459115 85459115 + Silent SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:85459115C>T ENST00000393217.2 + 9 2528 c.2467C>T c.(2467-2469)Cta>Tta p.L823L NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 823 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TCTTCAGTTTCTATCCCTTCG 0.413000 35 93 0 0 0.069456 0 0 IL16 3603 broad.mit.edu 37 15 81585074 81585074 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:81585074C>A ENST00000394660.2 + 12 1958 c.1598C>A c.(1597-1599)cCg>cAg p.P533Q IL16_ENST00000302987.4_Missense_Mutation_p.P533Q NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 533 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 GCTGAGAAGCCGTCCTCTGAC 0.617000 20 52 2.4624e-09 2.97741e-09 0.049695 1 0 KCNS2 3788 broad.mit.edu 37 8 99440881 99440881 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:99440881C>T ENST00000287042.4 + 2 1024 c.674C>T c.(673-675)cCt>cTt p.P225L KCNS2_ENST00000521839.1_Missense_Mutation_p.P225L NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 225 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GGCGAGGACCCTAGGTTCGAA 0.547000 19 61 0 0 0.076483 0 0 DAB2 1601 broad.mit.edu 37 5 39382954 39382954 + Silent SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:39382954C>A ENST00000545653.1 - 9 1574 c.1044G>T c.(1042-1044)tcG>tcT p.S348S DAB2_ENST00000509337.1_Silent_p.S348S|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Silent_p.S369S NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 369 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GCTGGGTTTGCGAACTTGAAA 0.502000 34 68 2.08457e-15 2.75461e-15 0.045705 1 0 AGTPBP1 23287 broad.mit.edu 37 9 88247825 88247825 + Silent SNP T T C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr9:88247825T>C ENST00000357081.3 - 14 1911 c.1767A>G c.(1765-1767)ctA>ctG p.L589L AGTPBP1_ENST00000432218.1_Silent_p.L427L|AGTPBP1_ENST00000376109.3_Silent_p.L601L|AGTPBP1_ENST00000376083.3_Silent_p.L549L|AGTPBP1_ENST00000337006.4_3'UTR Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 589 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 AAAGCTTCCCTAGCTGAACTG 0.448000 14 24 0 0 0.105934 0 0 EFCAB5 374786 broad.mit.edu 37 17 28405290 28405290 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:28405290C>T ENST00000394835.3 + 15 2987 c.2795C>T c.(2794-2796)tCa>tTa p.S932L EFCAB5_ENST00000320856.5_Missense_Mutation_p.S808L|EFCAB5_ENST00000394832.2_Intron NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 932 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 AGATTGTCTTCAAAACAATTT 0.383000 4 185 0 0 0.009096 0 0 ECEL1 9427 broad.mit.edu 37 2 233346507 233346507 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:233346507C>A ENST00000304546.1 - 13 2059 c.1849G>T c.(1849-1851)Ggc>Tgc p.G617C ECEL1_ENST00000409941.1_Missense_Mutation_p.G615C NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 617 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) TCGTCGTAGCCGTGGGTCAGC 0.662000 12 19 2.31682e-05 2.61349e-05 0.132662 1 0 PCDH15 65217 broad.mit.edu 37 10 55582503 55582503 + Silent SNP T T G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr10:55582503T>G ENST00000361849.3 - 34 5383 c.4989A>C c.(4987-4989)tcA>tcC p.S1663S PCDH15_ENST00000437009.1_Silent_p.S1592S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Silent_p.S1658S|PCDH15_ENST00000395432.2_Silent_p.S1621S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.S1661S|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Silent_p.S1638S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1661 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GAAAGCAAAATGAAGAGTCTG 0.418000 HNSCC(58;0.16) 22 95 0 0 0.055883 0 0 NBPF12 149013 broad.mit.edu 37 1 146398472 146398472 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:146398472G>T ENST00000442909.2 + 7 1294 c.458G>T c.(457-459)aGa>aTa p.R153I NBPF12_ENST00000309471.8_Missense_Mutation_p.R78I|NBPF12_ENST00000446760.2_Missense_Mutation_p.R153I neuroblastoma breakpoint family, member 12 ovary(2) 2 GAGGGGTGTAGACTGGCACAG 0.582000 34 95 1.60099e-16 2.14625e-16 0.074837 1 0 PCDH15 65217 broad.mit.edu 37 10 56423945 56423945 + Silent SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr10:56423945G>T ENST00000373965.2 - 2 472 c.78C>A c.(76-78)ggC>ggA p.G26G PCDH15_ENST00000437009.1_Silent_p.G26G|PCDH15_ENST00000395430.1_Silent_p.G26G|PCDH15_ENST00000395432.2_Silent_p.G26G|PCDH15_ENST00000373957.3_Silent_p.G26G|PCDH15_ENST00000320301.6_Silent_p.G26G|PCDH15_ENST00000395446.1_Silent_p.G26G|PCDH15_ENST00000395438.1_Silent_p.G26G|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000373955.1_Silent_p.G26G|PCDH15_ENST00000395433.1_Silent_p.G26G|PCDH15_ENST00000395442.1_Silent_p.G26G|PCDH15_ENST00000414778.1_Silent_p.G26G|PCDH15_ENST00000395440.1_Silent_p.G26G|PCDH15_ENST00000361849.3_Silent_p.G26G|PCDH15_ENST00000395445.1_Silent_p.G26G NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 26 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CATCATACTGGCCCAAGCAGA 0.388000 HNSCC(58;0.16) 22 41 2.27731e-05 2.58467e-05 0.062417 1 0 KIAA1107 23285 broad.mit.edu 37 1 92649455 92649455 + Silent SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:92649455C>T ENST00000409154.4 + 9 3798 c.3798C>T c.(3796-3798)acC>acT p.T1266T KIAA1107_ENST00000370378.4_Silent_p.T1211T Q9UPP5 K1107_HUMAN KIAA1107 1266 breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3) 14 TGGCACAAACCCGCATGTATG 0.383000 10 16 0 0 0.069234 0 0 TOR1A 1861 broad.mit.edu 37 9 132585000 132585000 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr9:132585000C>A ENST00000351698.4 - 2 352 c.304G>T c.(304-306)Ggg>Tgg p.G102W TOR1A_ENST00000473084.1_5'UTR NM_000113.2 NP_000104.1 O14656 TOR1A_HUMAN torsin family 1, member A (torsin A) 102 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Ovarian(14;0.00556) CCTGTCCACCCGTGCAGGGAG 0.478000 24 36 3.01185e-09 3.61813e-09 0.091800 1 0 MT-ND5 4540 broad.mit.edu 37 MT 13112 13112 + Missense_Mutation SNP T T C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chrM:13112T>C ENST00000361567.2 + 1 776 c.776T>C c.(775-777)tTa>tCa p.L259S P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 259 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) AGGAATCTTCTTACTCATCCG 0.527000 29 1108 0 0 0.069288 0 0 GATM 2628 broad.mit.edu 37 15 45660326 45660326 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:45660326C>A ENST00000396659.3 - 4 956 c.617G>T c.(616-618)cGt>cTt p.R206L GATM_ENST00000558336.1_Missense_Mutation_p.R206L NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 206 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) CTTGGCGCCACGGTGGAAGTA 0.463000 12 25 1.61879e-10 2.02349e-10 0.093190 1 0 SLC4A4 8671 broad.mit.edu 37 4 72205152 72205152 + Nonsense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:72205152C>T ENST00000340595.3 + 1 383 c.187C>T c.(187-189)Cag>Tag p.Q63* SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.Q107*|SLC4A4_ENST00000512686.1_Nonsense_Mutation_p.Q63*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.Q107*|SLC4A4_ENST00000264485.5_Nonsense_Mutation_p.Q107*|SLC4A4_ENST00000514331.1_3'UTR NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 107 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGCTCCCCCTCAGCTCTTCAC 0.537000 45 117 0 0 0.124865 0 0 PDE3A 5139 broad.mit.edu 37 12 20766498 20766498 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:20766498G>T ENST00000359062.3 + 3 1173 c.1133G>T c.(1132-1134)aGc>aTc p.S378I PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 378 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AGAGCCGTGAGCAACTTGCTC 0.557000 48 67 1.19451e-25 1.74004e-25 0.139131 1 0 RANBP6 26953 broad.mit.edu 37 9 6013939 6013939 + Nonsense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr9:6013939C>A ENST00000259569.5 - 1 1679 c.1669G>T c.(1669-1671)Gaa>Taa p.E557* RANBP6_ENST00000485372.1_5'UTR NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 557 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AGCTTGAGTTCCTTCTGAACA 0.378000 18 26 3.41278e-10 4.23735e-10 0.033300 1 0 MADD 8567 broad.mit.edu 37 11 47306739 47306739 + Missense_Mutation SNP G G C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr11:47306739G>C ENST00000342922.4 + 13 2762 c.2405G>C c.(2404-2406)gGc>gCc p.G802A MADD_ENST00000395336.3_Missense_Mutation_p.G802A|MADD_ENST00000402192.2_Missense_Mutation_p.G802A|MADD_ENST00000395344.3_Intron|MADD_ENST00000311027.5_Missense_Mutation_p.G802A|MADD_ENST00000407859.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000349238.3_Missense_Mutation_p.G802A NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 802 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CATGTCAGTGGCAATCGGTGA 0.532000 6 7 0 0 0.021553 0 0 DHX9 1660 broad.mit.edu 37 1 182822532 182822532 + Silent SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:182822532G>A ENST00000367549.3 + 5 566 c.456G>A c.(454-456)aaG>aaA p.K152K NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 152 Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 ACTCAAGAAAGGAAGAACAAG 0.458000 13 29 0 0 0.119110 0 0 ERLEC1 27248 broad.mit.edu 37 2 54028655 54028655 + Missense_Mutation SNP A A C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:54028655A>C ENST00000185150.4 + 7 778 c.647A>C c.(646-648)cAt>cCt p.H216P ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.H216P|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.H216P NM_015701.4 NP_056516.2 Q96DZ1 ERLEC_HUMAN endoplasmic reticulum lectin 1 216 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 TACATATGTCATCCTGAATCT 0.398000 29 72 0 0 0.125774 0 0 CHD3 1107 broad.mit.edu 37 17 7809893 7809893 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:7809893C>T ENST00000380358.4 + 29 4559 c.4558C>T c.(4558-4560)Cgc>Tgc p.R1520C CHD3_ENST00000330494.7_Missense_Mutation_p.R1461C|CHD3_ENST00000358181.4_Missense_Mutation_p.R1461C NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1461 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding p.R1461C(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TTTGTTCATGCGCCATCTGTG 0.607000 6 371 0 0 0.029380 0 0 ACP6 51205 broad.mit.edu 37 1 147120085 147120085 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:147120085G>A ENST00000369238.5 - 9 1553 c.1106C>T c.(1105-1107)tCt>tTt p.S369F ACP6_ENST00000460583.1_5'UTR NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 369 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding p.S369F(1) breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) CCACTCCTTAGATTCCAGGTG 0.527000 35 157 0 0 0.098360 0 0 KEAP1 9817 broad.mit.edu 37 19 10610279 10610279 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:10610279G>A ENST00000171111.5 - 2 978 c.431C>T c.(430-432)tCc>tTc p.S144F KEAP1_ENST00000393623.2_Missense_Mutation_p.S144F NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 144 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.S144F(2) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CATGGAGATGGAGGCCGTGTA 0.587000 6 15 0 0 0.021553 0 0 RGPD4 285190 broad.mit.edu 37 2 108488344 108488344 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:108488344G>T ENST00000408999.3 + 20 3961 c.3884G>T c.(3883-3885)aGt>aTt p.S1295I RGPD4_ENST00000354986.4_Missense_Mutation_p.S1295I NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1295 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCTAACTTCAGTTTTAAATCT 0.408000 83 197 6.11987e-43 9.13046e-43 0.139131 1 0 PTPRH 5794 broad.mit.edu 37 19 55696925 55696925 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:55696925G>T ENST00000376350.3 - 18 3029 c.3007C>A c.(3007-3009)Ctt>Att p.L1003I PTPRH_ENST00000263434.5_Missense_Mutation_p.L825I NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1003 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CACTGCCGAAGCATCCTCCAG 0.627000 4 6 0.0381472 0.0394259 0.038147 1 0 KLHDC4 54758 broad.mit.edu 37 16 87742907 87742907 + Missense_Mutation SNP T T A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:87742907T>A ENST00000270583.5 - 10 1469 c.1411A>T c.(1411-1413)Atg>Ttg p.M471L KLHDC4_ENST00000353170.5_Missense_Mutation_p.M414L|KLHDC4_ENST00000347925.5_Missense_Mutation_p.M440L|KLHDC4_ENST00000566349.1_5'UTR NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 471 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) CACGCCTCCATCCTGTGCAGG 0.667000 13 25 0 0 0.119110 0 0 CLDN11 5010 broad.mit.edu 37 3 170141044 170141044 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:170141044G>A ENST00000064724.3 + 2 522 c.320G>A c.(319-321)cGg>cAg p.R107Q CLDN11_ENST00000451576.1_Missense_Mutation_p.R107Q|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Missense_Mutation_p.R107Q NM_005602.5 NP_005593.2 O75508 CLD11_HUMAN claudin 11 107 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CCCTGCATCCGGATGGGCCAG 0.607000 4 40 0 0 0.009096 0 0 ALOXE3 59344 broad.mit.edu 37 17 8018989 8018989 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:8018989C>A ENST00000380149.1 - 3 868 c.838G>T c.(838-840)Gac>Tac p.D280Y ALOXE3_ENST00000318227.3_Missense_Mutation_p.D256Y|ALOXE3_ENST00000448843.2_Missense_Mutation_p.D124Y Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 124 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 GGAAGAGAGTCCTGACAAATA 0.502000 31 44 1.30897e-18 1.82075e-18 0.144211 1 0 MEGF8 1954 broad.mit.edu 37 19 42856543 42856543 + Silent SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:42856543C>T ENST00000334370.4 + 18 3719 c.3084C>T c.(3082-3084)ccC>ccT p.P1028P MEGF8_ENST00000251268.6_Silent_p.P1095P NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1095 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGAACACGCCCCTCAGCTACG 0.677000 2 3 0 0 0.115264 0 0 TUBA3C 7278 broad.mit.edu 37 13 19752442 19752442 + Missense_Mutation SNP G G C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr13:19752442G>C ENST00000400113.3 - 3 423 c.319C>G c.(319-321)Cat>Gat p.H107D NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 107 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) ATGGTGTAATGGCCTCTGGCG 0.537000 18 56 0 0 0.038395 0 0 GOLIM4 27333 broad.mit.edu 37 3 167750636 167750636 + Missense_Mutation SNP G G A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:167750636G>A ENST00000470487.1 - 9 1537 c.848C>T c.(847-849)tCt>tTt p.S283F GOLIM4_ENST00000309027.4_Missense_Mutation_p.S255F NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 283 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 ATTATTTCGAGACACCTAGGC 0.443000 27 71 0 0 0.108266 0 0 VAX2 25806 broad.mit.edu 37 2 71159913 71159913 + Missense_Mutation SNP A A T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:71159913A>T ENST00000234392.2 + 3 484 c.452A>T c.(451-453)cAg>cTg p.Q151L NM_012476.2 NP_036608.1 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 151 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 7 GTCTGGTTCCAGAACCGCCGC 0.617000 5 12 0 0 0.014758 0 0 RNF168 165918 broad.mit.edu 37 3 196229919 196229919 + Silent SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:196229919C>A ENST00000318037.3 - 1 720 c.126G>T c.(124-126)tcG>tcT p.S42S NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 42 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TTTCGACGGTCGACTGGAAGC 0.582000 35 45 2.40579e-17 3.2487e-17 0.086207 1 0 ZNF543 125919 broad.mit.edu 37 19 57839964 57839964 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:57839964G>T ENST00000321545.4 + 4 1479 c.1134G>T c.(1132-1134)gaG>gaT p.E378D NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTTTTTGCGAGAGTGCAGACC 0.512000 18 11 5.35267e-07 6.18902e-07 0.043863 1 0 ZNF100 163227 broad.mit.edu 37 19 21910652 21910652 + Missense_Mutation SNP C C G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:21910652C>G ENST00000358296.6 - 5 660 c.462G>C c.(460-462)gaG>gaC p.E154D ZNF100_ENST00000305570.6_Missense_Mutation_p.E90D NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 GCACTTTACACTCATCCACAC 0.323000 3 70 0 0 0.115264 0 0 POM121L12 285877 broad.mit.edu 37 7 53104222 53104222 + Missense_Mutation SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr7:53104222G>T ENST00000408890.4 + 1 874 c.858G>T c.(856-858)gaG>gaT p.E286D NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 286 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TCGCCCTCGAGGTCACCCAGT 0.617000 31 33 1.36615e-20 1.91467e-20 0.054565 1 0 SCN10A 6336 broad.mit.edu 37 3 38793872 38793872 + Missense_Mutation SNP T T A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:38793872T>A ENST00000449082.2 - 11 1592 c.1593A>T c.(1591-1593)gaA>gaT p.E531D NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 531 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCCGATGGCTTTCGTGGTCTC 0.607000 17 25 0 0 0.049695 0 0 ZCCHC3 85364 broad.mit.edu 37 20 279019 279019 + Silent SNP G G T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr20:279019G>T ENST00000382352.3 + 1 1283 c.792G>T c.(790-792)acG>acT p.T264T NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 264 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) GGAACGAGACGGTGGACGTGG 0.607000 28 54 1.7881e-09 2.20533e-09 0.134883 1 0 CYP4F24P 388514 broad.mit.edu 37 19 15871148 15871148 + RNA SNP C C G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:15871148C>G ENST00000587443.2 - 0 1464 NR_033864.1 TCCGTGTGGTCCAGCAGGAAG 0.667000 12 10 0 0 0.105934 0 0 LOC284632 284632 broad.mit.edu 37 1 24529611 24529627 + RNA DEL CCCTGCTGCCCACACAT CCCTGCTGCCCACACAT - rs71029527 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:24529611_24529627delCCCTGCTGCCCACACAT ENST00000439059.2 + 0 288 NR_027087.2 TCCCACACACCCCTGCTGCCCACACATCCCTGCTGCC 0.604 4 2 --- --- --- --- RP1-125I3.2 0 broad.mit.edu 37 1 26186959 26186960 + RNA INS - - T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:26186959_26186960insT ENST00000455431.1 + 0 263 AAATTTTGTAATTTTTTTTTTT 0.554 4 6 --- --- --- --- SDC3 9672 broad.mit.edu 37 1 31347369 31347370 + Frame_Shift_Ins INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:31347369_31347370insC ENST00000336798.7 - 2 2254_2255 c.762_763insG c.(760-765)ggccagfs p.Q255fs SDC3_ENST00000339394.6_Frame_Shift_Ins_p.Q313fs O75056 SDC3_HUMAN syndecan 3 313 Ser/Thr-rich (mucin-like). integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCACTGGGCCCCCCACTCA 0.609 11 268 --- --- --- --- ZRANB2-AS2 100852410 broad.mit.edu 37 1 71627981 71627981 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:71627981delT ENST00000455406.1 + 0 131 ZRANB2-AS2_ENST00000596952.1_RNA|ZRANB2-AS2_ENST00000415780.1_RNA NR_046217.1 ccttgcttcctcttcaccttc 0.448 4 4 --- --- --- --- MGC27382 149047 broad.mit.edu 37 1 78729632 78729632 + RNA DEL T T - rs79073963 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:78729632delT ENST00000436742.1 + 0 1342 tcaaacataataaaaaaaaaa 0.388 3 6 --- --- --- --- MGC27382 149047 broad.mit.edu 37 1 78733453 78733454 + RNA INS - - CCCT rs138438688 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:78733453_78733454insCCCT ENST00000436742.1 + 0 1342 AAAATCATCTCCcctccctccc 0.371 5 1 --- --- --- --- LOC101928241 101928241 broad.mit.edu 37 1 96795228 96795228 + RNA DEL T T - rs71068877 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:96795228delT ENST00000435311.1 - 0 165 TTTGTGTGTGTTTTTTTTTAT 0.368 4 4 --- --- --- --- LOC440600 440600 broad.mit.edu 37 1 110832284 110832284 + RNA DEL T T - rs35312587 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:110832284delT ENST00000449169.1 - 0 414 NR_036595.1 TAAGATGGGAttttttttttt 0.488 2 4 --- --- --- --- LOC101929147 101929147 broad.mit.edu 37 1 119746440 119746441 + RNA INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:119746440_119746441insC ENST00000418015.1 + 0 430 RP11-418J17.1_ENST00000413531.1_RNA gaaaatactttccccccaatat 0.391 2 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142647307 142647313 + RNA DEL GTGTGTG GTGTGTG - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:142647307_142647313delGTGTGTG ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA gtgtgtgtgtgtgtgtgtgtgtgtgtg 0.411 2 4 --- --- --- --- RP11-423O2.5 0 broad.mit.edu 37 1 142809179 142809180 + RNA INS - - T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:142809179_142809180insT ENST00000423385.1 - 0 88 gatgatgagcattttttcatgt 0.366 2 4 --- --- --- --- LOC101928979 101928979 broad.mit.edu 37 1 145381736 145381736 + RNA DEL A A - rs150712838 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:145381736delA ENST00000419817.1 - 0 307 catcctggctaacagagtgaa 0.552 2 4 --- --- --- --- LINC00862 554279 broad.mit.edu 37 1 200317686 200317686 + RNA DEL G G - rs113495575 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:200317686delG ENST00000367355.1 - 0 550 NR_040064.1 actctgtctcggaaaaaaaaa 0.537 2 4 --- --- --- --- TMEM78 677790 broad.mit.edu 37 1 229385670 229385671 + Frame_Shift_Del DEL TC TC - rs71561726 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr1:229385670_229385671delTC ENST00000323223.2 + 1 288_289 c.229_230delTC c.(229-231)tfs p.S77fs transmembrane protein 78 tctctctctttctctctttctt 0.465 6 4 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12599041 12599041 + RNA DEL A A - rs112071661 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:12599041delA ENST00000412294.1 + 0 412 taattccagcacattgggagg 0.493 4 2 --- --- --- --- AC010745.4 0 broad.mit.edu 37 2 16499410 16499411 + RNA INS - - G rs140534138 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:16499410_16499411insG ENST00000420130.1 - 0 171 aggcaaagagagaagggagagt 0.535 3 4 --- --- --- --- LINC01317 104355287 broad.mit.edu 37 2 34062574 34062575 + RNA INS - - A rs2001633 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:34062574_34062575insA ENST00000366209.2 + 0 68 tccatccccccaaaaaaaaaga 0.441 2 4 --- --- --- --- AC012593.1 0 broad.mit.edu 37 2 35258132 35258133 + RNA INS - - GGAA rs35076891 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:35258132_35258133insGGAA ENST00000588944.1 + 0 115 aaaggaagaagggaaggaagga 0.530 3 4 --- --- --- --- AC012593.1 0 broad.mit.edu 37 2 35352618 35352619 + RNA INS - - A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:35352618_35352619insA ENST00000588944.1 + 0 115 aatggaaagccaaaaaaaagca 0.376 2 4 --- --- --- --- AC079807.4 0 broad.mit.edu 37 2 48333164 48333165 + RNA INS - - G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:48333164_48333165insG ENST00000447571.1 - 0 240 p.0?(2) GGAAGCAGTGCGGGGGAAGCTA 0.515 2 4 --- --- --- --- AC010967.2 0 broad.mit.edu 37 2 53076449 53076450 + RNA INS - - T rs35109740 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:53076449_53076450insT ENST00000421575.1 - 0 119 ctgaagtttcctttttttgttg 0.406 3 6 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59927783 59927783 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:59927783delT ENST00000606382.1 - 0 236 gttgtctgtgtttttttttcc 0.373 2 4 --- --- --- --- LOC100507073 100507073 broad.mit.edu 37 2 66869564 66869565 + RNA INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:66869564_66869565insC ENST00000433396.1 + 0 136 taagcaatcctcccccctcagc 0.475 2 4 --- --- --- --- LOC101927701 101927701 broad.mit.edu 37 2 68031949 68031950 + RNA INS - - A rs34913115 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:68031949_68031950insA ENST00000457448.1 - 0 180 gaatccgtctcaaaaaaaaaaa 0.460 4 5 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74687542 74687543 + Frame_Shift_Ins INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:74687542_74687543insC ENST00000393972.3 + 5 849_850 c.646_647insC c.(646-648)cccfs p.P216fs WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs Q96G27 WBP1_HUMAN WW domain binding protein 1 182 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 CCACCAGAGTGCCCCCCCTCAT 0.604 8 68 --- --- --- --- LINC01291 102724515 broad.mit.edu 37 2 75159095 75159096 + RNA DEL GA GA - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:75159095_75159096delGA ENST00000377469.1 + 0 3298 gtagggaaaggagagagagaga 0.455 2 4 --- --- --- --- AC012442.5 0 broad.mit.edu 37 2 113363217 113363218 + RNA INS - - T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:113363217_113363218insT ENST00000414784.1 + 0 206 tactctctctctttttttttga 0.401 3 3 --- --- --- --- AC012363.4 0 broad.mit.edu 37 2 120938854 120938855 + RNA INS - - A rs112313964 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:120938854_120938855insA ENST00000455707.1 - 0 205 gaccctgtttcaaaaaaaaaaa 0.500 2 4 --- --- --- --- AC012501.2 0 broad.mit.edu 37 2 154287042 154287043 + RNA DEL GA GA - rs117767059 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:154287042_154287043delGA ENST00000424322.1 - 0 429 GGTAGGTagggagagagagaga 0.381 3 3 --- --- --- --- LOC101929532 101929532 broad.mit.edu 37 2 163018464 163018465 + RNA INS - - G rs116268321 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:163018464_163018465insG ENST00000418968.2 + 0 132 ACTAAAAATGTGGGGGGGGGAG 0.436 2 4 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 164958763 164958764 + RNA DEL AG AG - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:164958763_164958764delAG ENST00000429636.1 - 0 196 acagagagaaagagagagagag 0.332 2 4 --- --- --- --- CRYGB 1419 broad.mit.edu 37 2 209007411 209007412 + Frame_Shift_Ins INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:209007411_209007412insC ENST00000260988.4 - 3 525_526 c.478_479insG c.(478-480)tccfs p.S160fs NM_005210.3 NP_005201.2 P07316 CRGB_HUMAN crystallin, gamma B 160 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1) 14 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) GGCATTTGGAGCCCCCCAATCA 0.465 8 171 --- --- --- --- AC009410.1 0 broad.mit.edu 37 2 229410268 229410269 + RNA INS - - T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:229410268_229410269insT ENST00000432481.2 - 0 144 TGTGTTTCTTGTTTTTTTGACT 0.356 2 4 --- --- --- --- AC079135.1 0 broad.mit.edu 37 2 237200946 237200946 + RNA DEL T T - rs112406422 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr2:237200946delT ENST00000415226.1 + 0 397 TTGCAAAGTATTTTTTTTTTT 0.448 4 4 --- --- --- --- AC026167.1 0 broad.mit.edu 37 3 6242701 6242702 + RNA DEL AC AC - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:6242701_6242702delAC ENST00000435651.1 + 0 95 acacacacagacacacacacac 0.361 3 4 --- --- --- --- LMCD1-AS1 100288428 broad.mit.edu 37 3 8006219 8006220 + RNA DEL AG AG - rs13085046 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:8006219_8006220delAG ENST00000441861.1 - 0 508 LMCD1-AS1_ENST00000446281.1_RNA acacacacacagagagagagag 0.485 6 4 --- --- --- --- AC098973.2 0 broad.mit.edu 37 3 27870010 27870011 + RNA INS - - T rs112148897 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:27870010_27870011insT ENST00000414382.1 + 0 336 gctgaatccagttttttgtttt 0.351 2 4 --- --- --- --- ADAMTS9-AS2 100507098 broad.mit.edu 37 3 64806803 64806803 + RNA DEL C C - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:64806803delC ENST00000474768.1 + 0 573 ADAMTS9-AS2_ENST00000481312.1_RNA TTTTGAGTCTCAAAATTGTTC 0.373 3 3 --- --- --- --- LINC00877 285286 broad.mit.edu 37 3 72258857 72258858 + RNA INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:72258857_72258858insC ENST00000491567.1 - 0 78 CAGGATCCCTTCCCCCCCACGA 0.426 3 5 --- --- --- --- DZIP3 9666 broad.mit.edu 37 3 108403180 108403181 + Frame_Shift_Ins INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:108403180_108403181insC ENST00000361582.3 + 27 3231_3232 c.3001_3002insC c.(3001-3003)cccfs p.P1001fs DZIP3_ENST00000463306.1_Frame_Shift_Ins_p.P1001fs NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 1001 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 CCAACCTAGAGCCCCCCTGGTA 0.411 7 371 --- --- --- --- NPHP3-AS1 348808 broad.mit.edu 37 3 132579748 132579749 + RNA DEL TG TG - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:132579748_132579749delTG ENST00000504440.1 + 0 1824 NR_002811.1 ATAGTGAGCCtgtgtgtgtgtg 0.391 2 4 --- --- --- --- TFP1 100129696 broad.mit.edu 37 3 133455550 133455550 + RNA DEL A A - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:133455550delA ENST00000460564.1 + 0 381 aacaaagattaaaaaaaagac 0.303 2 4 --- --- --- --- RP11-23D24.2 0 broad.mit.edu 37 3 153590088 153590088 + RNA DEL A A - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:153590088delA ENST00000488210.1 - 0 477 ctgatgaaagaaattgaagag 0.303 2 4 --- --- --- --- RP11-324C10.1 0 broad.mit.edu 37 3 172890620 172890629 + RNA DEL CACATGTATA CACATGTATA - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:172890620_172890629delCACATGTATA ENST00000447709.1 + 0 22 accaacatggcacatgtatacatatgtaac 0.310 2 4 --- --- --- --- LINC01206 100996490 broad.mit.edu 37 3 181692689 181692690 + RNA INS - - A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:181692689_181692690insA ENST00000482787.3 + 0 714 gactccgtctcaaaaaaaaaaa 0.436 4 2 --- --- --- --- LOC100507391 100507391 broad.mit.edu 37 3 194464636 194464636 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr3:194464636delT ENST00000423318.1 + 0 727 NR_037891.1 ctaagtggccttttttcccct 0.522 2 4 --- --- --- --- TMED11P 100379220 broad.mit.edu 37 4 1124022 1124023 + RNA INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:1124022_1124023insC ENST00000504969.1 + 0 114 AAATGTCCTAACCCCCCCACGT 0.465 OREG0016029 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3424168 3424168 + Frame_Shift_Del DEL C C - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:3424168delC ENST00000336727.3 + 11 3808 c.2904delC c.(2902-2904)ctfs p.L968fs RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000538395.1_Frame_Shift_Del_p.L310fs|RGS12_ENST00000382788.3_Frame_Shift_Del_p.L968fs|RGS12_ENST00000306648.7_Frame_Shift_Del_p.L366fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.L320fs|RGS12_ENST00000344733.5_Frame_Shift_Del_p.L968fs NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 968 RBD 1. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCATTCATCTCCCGGATGGGA 0.627 2 4 --- --- --- --- LOC101929095 101929095 broad.mit.edu 37 4 15260477 15260480 + RNA DEL GTTG GTTG - rs10578607 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:15260477_15260480delGTTG ENST00000502344.1 - 0 154 attttgccctgttggtcaggctgt 0.534 3 5 --- --- --- --- RP11-141E13.1 0 broad.mit.edu 37 4 17061202 17061203 + RNA INS - - G rs149072303 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:17061202_17061203insG ENST00000511735.1 - 0 154 GCAGGCCACTTGCTTTAGCCCC 0.599 7 2 --- --- --- --- RP11-292B1.2 0 broad.mit.edu 37 4 29008231 29008232 + RNA INS - - A rs36189350 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:29008231_29008232insA ENST00000514802.1 + 0 348 tatgcagccataaaaaggatga 0.396 3 3 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 9 121 --- --- --- --- LOC101928851 101928851 broad.mit.edu 37 4 58305593 58305593 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:58305593delT ENST00000510956.1 + 0 544 gccattcacattttttttttt 0.358 3 4 --- --- --- --- RP11-625I7.1 0 broad.mit.edu 37 4 78402783 78402783 + RNA DEL A A - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:78402783delA ENST00000513871.1 - 0 122 gttattgattaatactttaat 0.378 2 4 --- --- --- --- RASGEF1B 153020 broad.mit.edu 37 4 82928397 82928397 + RNA DEL A A - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:82928397delA ENST00000510780.1 - 0 244 TGCCCACGTTAAAAGAATTGT 0.383 2 4 --- --- --- --- RP11-767N15.1 0 broad.mit.edu 37 4 84608329 84608330 + RNA INS - - T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:84608329_84608330insT ENST00000510169.1 - 0 218 CTCTTCTGAGAttttttttttt 0.480 3 6 --- --- --- --- LOC101929468 101929468 broad.mit.edu 37 4 105463634 105463635 + RNA INS - - AGA rs142362671 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:105463634_105463635insAGA ENST00000500179.1 + 0 96 aaccagttgagagaacataaat 0.416 5 10 --- --- --- --- SEC24B-AS1 100533182 broad.mit.edu 37 4 110297956 110297956 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:110297956delT ENST00000499713.2 - 0 723 SEC24B-AS1_ENST00000505895.1_RNA TGTCCCTTCCTTGCACTGCCA 0.507 2 4 --- --- --- --- LINC01378 103689918 broad.mit.edu 37 4 118599215 118599215 + RNA DEL C C - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:118599215delC ENST00000422145.3 + 0 263 actctcgatacccactgccct 0.458 2 4 --- --- --- --- RP11-714L20.1 0 broad.mit.edu 37 4 138494688 138494688 + RNA DEL T T - rs66825196 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:138494688delT ENST00000507365.1 + 0 80 CCTCTAACCATTTTTCATGTG 0.383 3 4 --- --- --- --- LINC00616 641365 broad.mit.edu 37 4 138978500 138978500 + RNA DEL C C - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:138978500delC ENST00000514600.1 - 0 870 NR_037866.1 agggcagtttcccccgttctg 0.458 2 4 --- --- --- --- RP13-578N3.3 0 broad.mit.edu 37 4 144785274 144785275 + RNA INS - - T rs34779056 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:144785274_144785275insT ENST00000499587.2 + 0 496 TGAGAGCTGGCGCAAGCTTGAG 0.515 4 3 --- --- --- --- RP11-6E9.4 0 broad.mit.edu 37 4 170905105 170905106 + RNA INS - - AAAT rs10527426 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr4:170905105_170905106insAAAT ENST00000508955.1 + 0 142 ATTGTGAAAACAATTTAGGCTG 0.277 3 3 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9864744 9864745 + RNA INS - - A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:9864744_9864745insA ENST00000511616.1 - 0 521 RP11-447B18.1_ENST00000508097.1_lincRNA NR_027112.2 agactccactcaaaaaaaaaaa 0.450 3 3 --- --- --- --- LOC285696 285696 broad.mit.edu 37 5 17143587 17143588 + RNA INS - - CTAA rs147374273 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:17143587_17143588insCTAA ENST00000399760.2 - 0 1068 NR_027253.1 TTCCTAACTTTCTATGTCTGCC 0.485 4 4 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21564316 21564317 + RNA DEL TC TC - rs71607535 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:21564316_21564317delTC ENST00000607545.1 + 0 314 NR_027026.1 AAGGAGCCTTTCTCTGCCTGAA 0.361 4 4 --- --- --- --- CTD-2353F22.1 0 broad.mit.edu 37 5 36690894 36690894 + RNA DEL C C - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:36690894delC ENST00000510740.1 - 0 60 TGCCTCATCTCCCTTCTCTCC 0.507 OREG0016568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- MEF2C-AS1 101929423 broad.mit.edu 37 5 88595381 88595388 + RNA DEL ACACACAC ACACACAC - rs55923004 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:88595381_88595388delACACACAC ENST00000512585.1 + 0 319 MEF2C-AS1_ENST00000514092.1_RNA agtattctaaacacacacacacacacac 0.332 5 4 --- --- --- --- MEF2C-AS1 101929423 broad.mit.edu 37 5 88605210 88605211 + RNA DEL CA CA - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:88605210_88605211delCA ENST00000514092.1 + 0 244 TGTGATTTACCACACACACACA 0.396 3 4 --- --- --- --- RP11-133F8.2 0 broad.mit.edu 37 5 91951345 91951346 + RNA DEL AG AG - rs34141820 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:91951345_91951346delAG ENST00000512210.1 - 0 52 TATGGAAGAAAGCATTAGATGT 0.446 5 3 --- --- --- --- RP11-155G15.2 0 broad.mit.edu 37 5 96578433 96578433 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:96578433delT ENST00000504578.1 + 0 71 ATGAAGACAGTTTTCTCCCAT 0.463 2 4 --- --- --- --- RP11-6N13.1 0 broad.mit.edu 37 5 104590751 104590752 + RNA INS - - GAAT TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:104590751_104590752insGAAT ENST00000503650.1 - 0 210 aaggagggaaggaaggaaggaa 0.485 2 4 --- --- --- --- CTC-551A13.1 0 broad.mit.edu 37 5 110307915 110307915 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:110307915delT ENST00000507627.1 - 0 482 AGTCAAAACCTTTTTTAGCAA 0.353 2 4 --- --- --- --- RP11-492A10.1 0 broad.mit.edu 37 5 113840504 113840507 + RNA DEL AGAG AGAG - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:113840504_113840507delAGAG ENST00000514115.1 - 0 331 tgcgtgagatagagagagagagag 0.461 2 4 --- --- --- --- RP11-492A10.1 0 broad.mit.edu 37 5 113915910 113915910 + RNA DEL A A - rs35454360 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:113915910delA ENST00000514115.1 - 0 331 CTACCTTTATAAAAAAATACA 0.333 7 0 --- --- --- --- CTB-11I22.1 0 broad.mit.edu 37 5 158649451 158649451 + RNA DEL A A - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:158649451delA ENST00000521204.1 + 0 191 cctgtctcttaaaaaaaaaaa 0.453 2 4 --- --- --- --- NEURL1B 54492 broad.mit.edu 37 5 172113708 172113709 + Frame_Shift_Ins INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr5:172113708_172113709insC ENST00000369800.5 + 5 1589_1590 c.1448_1449insC c.(1447-1449)accfs p.T483fs NEURL1B_ENST00000522853.1_Frame_Shift_Ins_p.T301fs|NEURL1B_ENST00000520919.1_Frame_Shift_Ins_p.T243fs NM_001142651.1 NP_001136123.1 A8MQ27 NEU1B_HUMAN neuralized E3 ubiquitin protein ligase 1B 483 Ser-rich. ligase activity|zinc ion binding endometrium(2) 2 TCCCCGCTGAGCCCCCCGGTGT 0.619 2 4 --- --- --- --- RP11-532F6.4 0 broad.mit.edu 37 6 733501 733501 + RNA DEL T T - rs137899133 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr6:733501delT ENST00000607644.1 + 0 243 AGGGAAGCTATTTTTTTTTTT 0.353 3 5 --- --- --- --- LOC101928106 101928106 broad.mit.edu 37 6 10476389 10476390 + RNA DEL TC TC - rs143840920 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr6:10476389_10476390delTC ENST00000431401.1 - 0 162 gagaacagtttctgttgttttt 0.505 6 2 --- --- --- --- HCP5 10866 broad.mit.edu 37 6 31430539 31430539 + RNA DEL A A - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr6:31430539delA ENST00000414046.2 + 0 62 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 AAGGAATGGGAGGCAGGAAGT 0.552 4 3 --- --- --- --- RP1-179N16.6 0 broad.mit.edu 37 6 36155408 36155408 + RNA DEL T T - rs78855599 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr6:36155408delT ENST00000499560.2 - 0 265 RP1-179N16.6_ENST00000526611.1_RNA cttttcttggtttttttttct 0.363 3 4 --- --- --- --- TDRG1 732253 broad.mit.edu 37 6 40314634 40314636 + RNA DEL CAT CAT - rs59852583 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr6:40314634_40314636delCAT ENST00000451810.1 + 0 313 TDRG1_ENST00000448559.1_RNA TAATGattaccatcatcatcatc 0.409 4 2 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 7 157 --- --- --- --- JAZF1-AS1 100128081 broad.mit.edu 37 7 28279443 28279443 + RNA DEL A A - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr7:28279443delA ENST00000455963.1 + 0 301 JAZF1-AS1_ENST00000436758.1_RNA AAACATGCAGAAGATTTCCTC 0.468 2 4 --- --- --- --- AC002127.4 0 broad.mit.edu 37 7 88349371 88349371 + RNA DEL A A - rs35087888 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr7:88349371delA ENST00000444032.1 + 0 65 catttttgataatatctgtct 0.308 4 2 --- --- --- --- AZGP1P1 646282 broad.mit.edu 37 7 99581178 99581179 + RNA INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr7:99581178_99581179insC ENST00000425474.1 + 0 499_500 NR_036679.1 TCCGCATCCCACCCCCCCCACA 0.579 3 6 --- --- --- --- LOC101928012 101928012 broad.mit.edu 37 7 112266744 112266759 + RNA DEL TGGCCTCCCAGAGTGC TGGCCTCCCAGAGTGC - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr7:112266744_112266759delTGGCCTCCCAGAGTGC ENST00000453459.1 + 0 242 ccacccaccttggcctcccagagtgctgggattaca 0.495 3 6 --- --- --- --- LOC101928012 101928012 broad.mit.edu 37 7 112331038 112331039 + RNA INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr7:112331038_112331039insC ENST00000453459.1 + 0 580 ctgcacaccctccccccaaatc 0.381 2 4 --- --- --- --- RP11-61D3.1 0 broad.mit.edu 37 7 122719065 122719067 + RNA DEL TTG TTG - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr7:122719065_122719067delTTG ENST00000420146.2 - 0 135 GCTTTGAAGTTTGTTGTTGTTGT 0.379 2 4 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 7 23 --- --- --- --- LINC01288 103689844 broad.mit.edu 37 8 34649578 34649579 + RNA INS - - T rs10540834 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:34649578_34649579insT ENST00000519189.1 + 0 45 AAGAAAAGGTGTTTTTTTTTTT 0.302 2 4 --- --- --- --- RP11-962G15.1 0 broad.mit.edu 37 8 36402268 36402268 + RNA DEL A A - rs77180107 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:36402268delA ENST00000524132.1 - 0 484 actcaaaaggaaaaaaaaaaa 0.403 2 4 --- --- --- --- LOC102723701 102723701 broad.mit.edu 37 8 37593487 37593487 + Frame_Shift_Del DEL A A - rs112819064 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:37593487delA ENST00000330539.1 - 2 877 c.529delT c.(529-531)ctfs p.S177fs TCAAGGAGAGAAAAAAAAAAA 0.458 2 4 --- --- --- --- LOC102724623 102724623 broad.mit.edu 37 8 64878660 64878660 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:64878660delT ENST00000524360.1 - 0 195 RP11-32K4.1_ENST00000523191.1_RNA|RP11-32K4.1_ENST00000521958.1_RNA ccttccttcctccctccctcc 0.363 4 7 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96488130 96488131 + RNA INS - - T rs35974799 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:96488130_96488131insT ENST00000521905.1 + 0 281 GTCCTGGTAAGTTTTTTTTTTT 0.401 2 4 --- --- --- --- LINC00536 100859921 broad.mit.edu 37 8 117032559 117032560 + RNA INS - - A rs34518892 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:117032559_117032560insA ENST00000505156.2 - 0 1558 NR_046215.1 GAAACAAAGACAAAAAAAAAAA 0.391 3 4 --- --- --- --- LINC00536 100859921 broad.mit.edu 37 8 117152350 117152351 + RNA INS - - G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:117152350_117152351insG ENST00000505156.2 - 0 1333 NR_046215.1 ttctgatcccagggggggctct 0.505 3 3 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130685914 130685915 + RNA INS - - T rs77533437 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:130685914_130685915insT ENST00000446592.3 - 0 312 ATCGTTAAGTCTTTTTTTTTGC 0.480 4 2 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142445062 142445063 + RNA INS - - G rs79308669 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr8:142445062_142445063insG ENST00000606664.1 + 0 418_419 MROH5_ENST00000430863.1_RNA TGGGACGGGCTGGGGGCCCTGG 0.644 6 4 --- --- --- --- ATP8B5P 158381 broad.mit.edu 37 9 35447285 35447285 + RNA DEL G G - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr9:35447285delG ENST00000430846.1 + 0 2365 CAGGAATACTGACCTATAAGG 0.428 2 4 --- --- --- --- LOC340512 340512 broad.mit.edu 37 9 109781277 109781277 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr9:109781277delT ENST00000439901.1 - 0 455 GCAGCTAGCCTTTTTAAATTC 0.408 2 4 --- --- --- --- RP11-202G18.1 0 broad.mit.edu 37 9 113919494 113919495 + RNA INS - - G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr9:113919494_113919495insG ENST00000426204.1 - 0 370 ctggtatatgcgggggggattg 0.431 2 4 --- --- --- --- SEPHS1 22929 broad.mit.edu 37 10 13371759 13371762 + Frame_Shift_Del DEL AGCA AGCA - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr10:13371759_13371762delAGCA ENST00000327347.5 - 6 962_965 c.587_590delTGCT c.(586-591)ggfs p.VL198fs SEPHS1_ENST00000378614.4_Frame_Shift_Del_p.VL198fs|SEPHS1_ENST00000537130.1_Frame_Shift_Del_p.VL131fs|SEPHS1_ENST00000545675.1_Frame_Shift_Del_p.VL198fs NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 198 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 TGTCAGCACCAGCACGTCCCCTGG 0.515 4 8 --- --- --- --- OR5G5P 81191 broad.mit.edu 37 11 56583930 56583930 + RNA DEL A A - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr11:56583930delA ENST00000378368.2 - 0 128 ttgtccacctaagcatttctc 0.323 2 4 --- --- --- --- LOC283214 283214 broad.mit.edu 37 11 75473759 75473759 + RNA DEL A A - rs5792702 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr11:75473759delA ENST00000499390.2 - 0 905 NR_046090.1 actccgtctcaaaaaaaaaaa 0.423 3 5 --- --- --- --- LOC646522 646522 broad.mit.edu 37 11 133678454 133678455 + RNA INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr11:133678454_133678455insC ENST00000526254.1 - 0 121 TGTGGCTTCTACCCCCGCTGAA 0.520 2 4 --- --- --- --- CACNA1C-IT1 100874368 broad.mit.edu 37 12 2128655 2128656 + RNA INS - - AGGG rs139670456 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:2128655_2128656insAGGG ENST00000542984.1 + 0 80 aaagaaaagaaagggagggagg 0.450 2 4 --- --- --- --- ATN1 1822 broad.mit.edu 37 12 7045699 7045700 + Frame_Shift_Ins INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:7045699_7045700insC ENST00000356654.4 + 5 1506_1507 c.1269_1270insC c.(1267-1272)caccccfs p.HP423fs ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 423 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 TCTCCAATCAGCCCCCCAAGTA 0.614 7 255 --- --- --- --- LOC728715 728715 broad.mit.edu 37 12 9714223 9714224 + RNA INS - - T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:9714223_9714224insT ENST00000520314.1 + 0 1418_1419 CTTTCCCCTCCTTTTTTTCCCT 0.450 2 4 --- --- --- --- RP11-871F6.3 0 broad.mit.edu 37 12 17699520 17699520 + RNA DEL G G - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:17699520delG ENST00000540399.1 - 0 888 acatttttatggaggttccct 0.308 2 4 --- --- --- --- RP11-313F23.4 0 broad.mit.edu 37 12 34345095 34345095 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:34345095delT ENST00000545923.2 - 0 347 GTGGCTAAAATTTTAAAAACT 0.403 2 4 --- --- --- --- RP11-478B9.1 0 broad.mit.edu 37 12 45488190 45488190 + RNA DEL T T - rs75346630 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:45488190delT ENST00000548424.1 + 0 448 TGTTTCATTCTTTTTTTTTTC 0.428 2 4 --- --- --- --- RP11-446N19.1 0 broad.mit.edu 37 12 47035322 47035323 + RNA INS - - A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:47035322_47035323insA ENST00000607353.1 + 0 287 gcctaccaaccaaaaaaagccc 0.411 2 4 --- --- --- --- RP11-150C16.1 0 broad.mit.edu 37 12 59429857 59429857 + RNA DEL A A - rs34751459 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:59429857delA ENST00000547590.1 + 0 226 AGTGTAAATGAAAAAAAAAAA 0.353 3 3 --- --- --- --- IFNG-AS1 100885789 broad.mit.edu 37 12 68476421 68476422 + RNA INS - - A rs138246258 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:68476421_68476422insA ENST00000536914.1 + 0 336 taatacagagtaaaaaaaacaa 0.287 5 4 --- --- --- --- RP11-314D7.4 0 broad.mit.edu 37 12 73775168 73775169 + RNA INS - - T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:73775168_73775169insT ENST00000549058.1 - 0 132 tcctgttgatgtttttgcttca 0.347 2 4 --- --- --- --- RP11-314D7.4 0 broad.mit.edu 37 12 74282988 74282990 + RNA DEL CTT CTT - rs151303576 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:74282988_74282990delCTT ENST00000549058.1 - 0 60 CCCACCCTAACTTCTTCAAGTTT 0.404 5 3 --- --- --- --- RP11-13A1.3 0 broad.mit.edu 37 12 89447871 89447871 + RNA DEL G G - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:89447871delG ENST00000549278.1 - 0 282 agaacagcgtgggaaagactc 0.473 2 4 --- --- --- --- RP11-541G9.1 0 broad.mit.edu 37 12 97487328 97487328 + RNA DEL A A - rs76309124 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:97487328delA ENST00000552238.1 + 0 39 ttaggggaagaggctttctgt 0.453 5 3 --- --- --- --- RMST 196475 broad.mit.edu 37 12 97958166 97958166 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:97958166delT ENST00000538559.2 + 0 2320 CCAAGAGTTGTTTTCCATGTA 0.458 2 4 --- --- --- --- RP11-690J15.1 0 broad.mit.edu 37 12 98583925 98583925 + RNA DEL A A - rs72047439 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:98583925delA ENST00000548344.1 - 0 68 TCTTCTGTTTAAAAAAAAAAA 0.363 2 4 --- --- --- --- RP11-328J6.1 0 broad.mit.edu 37 12 103526102 103526126 + RNA DEL CTGGGGTCCTGAAATGGCTCCCTAA CTGGGGTCCTGAAATGGCTCCCTAA - rs111481333 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:103526102_103526126delCTGGGGTCCTGAAATGGCTCCCTAA ENST00000548594.1 - 0 167 RP11-328J6.1_ENST00000548415.1_RNA cagggcttggctggggtcctgaaatggctccctaacatgggaaaa 0.489 3 5 --- --- --- --- RP11-1028N23.4 0 broad.mit.edu 37 12 116061445 116061445 + RNA DEL C C - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr12:116061445delC ENST00000551940.1 - 0 90 GTGCTTCCGGCCCTGGTGTAG 0.438 2 4 --- --- --- --- RP11-478K15.1 0 broad.mit.edu 37 13 44706478 44706479 + RNA INS - - CAAAAAATCACATTTCC rs71099879 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr13:44706478_44706479insCAAAAAATCACATTTCC ENST00000432331.1 - 0 134 TCCTTAAGAAACAAAAAATCAC 0.426 2 4 --- --- --- --- LINC00359 100887754 broad.mit.edu 37 13 97599672 97599673 + RNA INS - - T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr13:97599672_97599673insT ENST00000442322.1 - 0 270 ttttttggttgttttttttttt 0.535 3 5 --- --- --- --- RP11-146E13.4 0 broad.mit.edu 37 14 19856349 19856350 + RNA INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr14:19856349_19856350insC ENST00000548109.1 + 0 72 AAAAAACAAAAAACAACAAAAA 0.406 3 4 --- --- --- --- LOC728755 728755 broad.mit.edu 37 14 27903884 27903887 + RNA DEL GTGC GTGC - rs72286176 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr14:27903884_27903887delGTGC ENST00000553392.1 - 0 262 gtgtgtgtgtgtgCGCGCGCACAT 0.333 3 5 --- --- --- --- RP11-148E17.1 0 broad.mit.edu 37 14 29478223 29478223 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr14:29478223delT ENST00000551227.1 + 0 418 CCTAAAGCCATTTTTTTTTCA 0.303 2 4 --- --- --- --- CTD-2307P3.1 0 broad.mit.edu 37 14 43038535 43038536 + RNA DEL GC GC - rs116964338 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr14:43038535_43038536delGC ENST00000557251.1 + 0 166 AGGCAtgtgtgcgtgtgtgtgt 0.416 2 4 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44519362 44519363 + RNA INS - - A rs147693497 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr14:44519362_44519363insA ENST00000553827.1 - 0 69 TCTAGAGAAAGAAAAAAAAACT 0.322 5 2 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57363771 57363771 + RNA DEL T T - rs35539919 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr14:57363771delT ENST00000534909.2 + 0 287 OTX2-AS1_ENST00000554428.1_RNA|OTX2-AS1_ENST00000554358.1_RNA|OTX2-AS1_ENST00000554725.1_RNA NR_029385.1 CTGTTAACACTTTTTTTTTTT 0.453 3 5 --- --- --- --- CTD-2509G16.5 0 broad.mit.edu 37 14 65770235 65770235 + RNA DEL A A - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr14:65770235delA ENST00000553754.1 - 0 300 cgaagctaggaagcgacacag 0.512 2 4 --- --- --- --- RP11-736P16.1 0 broad.mit.edu 37 14 87451926 87451926 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr14:87451926delT ENST00000554181.1 + 0 188 CTTCTCTCTCTTTTTTTTGCA 0.358 2 4 --- --- --- --- GALC 2581 broad.mit.edu 37 14 88321371 88321371 + RNA DEL G G - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr14:88321371delG ENST00000554305.1 - 0 17 aaggttgtaaggagccagaaa 0.418 3 6 --- --- --- --- LOC100128714 100128714 broad.mit.edu 37 15 26202157 26202158 + RNA DEL CA CA - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:26202157_26202158delCA ENST00000383019.2 + 0 207 NR_040082.1 CACcacataccacacacaacac 0.505 2 4 --- --- --- --- RP11-184D12.1 0 broad.mit.edu 37 15 36379646 36379647 + RNA DEL AG AG - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:36379646_36379647delAG ENST00000561394.1 - 0 136 aaggatagaaagagaattgtgg 0.361 2 4 --- --- --- --- RP11-624L4.1 0 broad.mit.edu 37 15 39221547 39221548 + RNA INS - - TCTT rs148511181 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:39221547_39221548insTCTT ENST00000560197.1 - 0 251 RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA tggatcttctctattagtcagc 0.322 2 4 --- --- --- --- RP11-507B12.2 0 broad.mit.edu 37 15 61769548 61769549 + RNA DEL TG TG - rs146605125 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:61769548_61769549delTG ENST00000559783.1 - 0 186 TTCAACAATATGTGTTTGCAAA 0.441 7 4 --- --- --- --- LOC101928850 101928850 broad.mit.edu 37 15 61891177 61891178 + RNA DEL CG CG - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:61891177_61891178delCG ENST00000561182.1 + 0 88 RP11-507B12.2_ENST00000559783.1_lincRNA GTGCAACTCTCGCTTTTTTCTT 0.515 4 7 --- --- --- --- LOC102723344 102723344 broad.mit.edu 37 15 63684434 63684435 + RNA INS - - T rs149085810 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:63684434_63684435insT ENST00000559821.1 + 0 32 GCTCTCttctcttttttttttt 0.490 4 2 --- --- --- --- RP11-798K3.2 0 broad.mit.edu 37 15 67349064 67349064 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:67349064delT ENST00000558071.1 - 0 114 cttctctctcttttttttttt 0.458 2 4 --- --- --- --- LOC102723640 102723640 broad.mit.edu 37 15 72901336 72901336 + RNA DEL G G - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:72901336delG ENST00000565305.1 - 0 172 CTTTGAAGGTGGGAATCTGGG 0.483 26 62 --- --- --- --- EFTUD1P1 648809 broad.mit.edu 37 15 84763292 84763292 + RNA DEL T T - rs79110907 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:84763292delT ENST00000558187.1 + 0 412 cctgtgggaattttttttttt 0.353 2 4 --- --- --- --- RP11-183E24.2 0 broad.mit.edu 37 15 98669465 98669466 + RNA DEL TC TC - rs10559601 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr15:98669465_98669466delTC ENST00000559643.1 - 0 174 CTD-2544M6.1_ENST00000560360.1_lincRNA tcttcttcaatctctctctctc 0.505 3 6 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5321635 5321637 + RNA DEL GAT GAT - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:5321635_5321637delGAT ENST00000569895.1 + 0 304 ttagaaggtcgatgatgtgtccc 0.453 2 4 --- --- --- --- CTD-3032H12.2 0 broad.mit.edu 37 16 54970046 54970047 + RNA INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:54970046_54970047insC ENST00000560487.1 + 0 179 CTCCCCTCTCTCCCCCCACAGC 0.495 2 4 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 70934982 70934983 + Frame_Shift_Ins INS - - G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr16:70934982_70934983insG ENST00000393567.2 - 53 9122_9123 c.8972_8973insC c.(8971-8973)cgafs p.R2991fs NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2991 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACTCAGCCTCAGGGGGGATGGT 0.574 7 728 --- --- --- --- CTC-281F24.1 0 broad.mit.edu 37 17 6558134 6558135 + RNA DEL CA CA - rs66831436 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:6558134_6558135delCA ENST00000576138.1 - 0 119 GAAGGAGGCCCAGGGGAAGCGG 0.589 5 3 --- --- --- --- RP11-260A9.6 0 broad.mit.edu 37 17 25318216 25318216 + RNA DEL T T - rs111803514 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:25318216delT ENST00000580686.1 - 0 189 TGCTGGCCTCTGGCAGGCTGG 0.612 3 3 --- --- --- --- SDF2 6388 broad.mit.edu 37 17 26988862 26988863 + Frame_Shift_Ins INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:26988862_26988863insC ENST00000247020.4 - 1 330_331 c.32_33insG c.(31-33)gttfs p.V11fs SDF2_ENST00000592250.1_Intron NM_006923.3 NP_008854.2 Q99470 SDF2_HUMAN stromal cell-derived factor 2 11 protein glycosylation extracellular space|membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity p.G11fs*20(1) endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Lung NSC(42;0.00431) CGCTCCACAAACCCCCCAACAA 0.584 8 166 --- --- --- --- RP11-445F12.1 0 broad.mit.edu 37 17 35274569 35274570 + RNA DEL CA CA - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:35274569_35274570delCA ENST00000532387.2 - 0 95 RP11-445F12.1_ENST00000529264.1_RNA|RP11-445F12.1_ENST00000528383.1_RNA cacatgcacgcacacacacaca 0.554 2 4 --- --- --- --- NFE2L1 4779 broad.mit.edu 37 17 46133791 46133792 + Frame_Shift_Ins INS - - G TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:46133791_46133792insG ENST00000362042.3 + 3 1170_1171 c.554_555insG c.(553-555)cggfs p.R185fs NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.R16fs|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.R27fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.R59fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.R185fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.R174fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.R185fs NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 185 Asp/Glu-rich (acidic). anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GATATTGATCTGGGGGCTGGGC 0.530 8 734 --- --- --- --- RP11-515E23.1 0 broad.mit.edu 37 17 53547343 53547343 + RNA DEL A A - rs55821488 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:53547343delA ENST00000577089.1 - 0 230 aactccatctaaaaaaaaaac 0.498 4 8 --- --- --- --- RP11-60A24.3 0 broad.mit.edu 37 17 55869092 55869093 + RNA INS - - ATTG rs145859019 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:55869092_55869093insATTG ENST00000580960.1 - 0 254 gaaaagcagacattgatcagat 0.436 3 3 --- --- --- --- LINC01483 101928122 broad.mit.edu 37 17 67614850 67614851 + RNA INS - - TC rs150168385 by1000genomes TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr17:67614850_67614851insTC ENST00000433856.1 + 0 156 TTTCGTCttcttttttttttga 0.386 5 1 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22326225 22326226 + RNA DEL AC AC - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr18:22326225_22326226delAC ENST00000582650.1 + 0 235 Gcacacacagacacacacacac 0.485 2 4 --- --- --- --- LINC00669 647946 broad.mit.edu 37 18 37176580 37176580 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr18:37176580delT ENST00000591629.1 - 0 282 NR_024391.1 aagttctttcttatcttgccc 0.338 2 4 --- --- --- --- TCEB3CL 728929 broad.mit.edu 37 18 44549025 44549026 + Frame_Shift_Ins INS - - GC TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr18:44549025_44549026insGC ENST00000451265.1 - 1 1508_1509 c.1273_1274insGC c.(1273-1275)gcgfs p.A425fs KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_001100817.1 NP_001094287.1 transcription elongation factor B polypeptide 3C-like central_nervous_system(1)|lung(1)|prostate(1) 3 TCGCAGCCGCTGCTCTCGGGCG 0.554 4 3 --- --- --- --- LOC643542 643542 broad.mit.edu 37 18 65474584 65474585 + RNA DEL TG TG - rs74385942 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr18:65474584_65474585delTG ENST00000583687.1 + 0 204 NR_033921.1 TGAGAGGCTTTGTAATAATTTA 0.371 3 4 --- --- --- --- PIAS4 51588 broad.mit.edu 37 19 4028742 4028742 + Frame_Shift_Del DEL G G - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:4028742delG ENST00000262971.2 + 6 812 c.697delG c.(697-699)ggfs p.G233fs PIAS4_ENST00000596144.1_3'UTR NM_015897.2 NP_056981.2 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 233 PINIT. positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CAATAAGCCCGGGGTGGAGCC 0.662 2 4 --- --- --- --- RP11-255H23.4 0 broad.mit.edu 37 19 24038946 24038950 + RNA DEL GAGAG GAGAG - rs113882697 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:24038946_24038950delGAGAG ENST00000599944.1 - 0 150 aagaggtagagagagggttgccaga 0.493 3 4 --- --- --- --- PCAT19 100505495 broad.mit.edu 37 19 41963184 41963184 + RNA DEL G G - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:41963184delG ENST00000588495.1 - 0 1153 NR_040109.1 aaaaaaaaaagaaaaCCAAAG 0.418 3 5 --- --- --- --- PCAT19 100505495 broad.mit.edu 37 19 41974321 41974321 + RNA DEL A A - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:41974321delA ENST00000588495.1 - 0 1153 NR_040109.1 acaatatcacaaaaaaggtgt 0.388 2 4 --- --- --- --- CEACAM22P 388550 broad.mit.edu 37 19 45041927 45041927 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:45041927delT ENST00000446628.1 - 0 2133 NR_027754.1 ATAACACttcttttttttttt 0.448 2 4 --- --- --- --- BBC3 27113 broad.mit.edu 37 19 47725018 47725019 + Frame_Shift_Ins INS - - C TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr19:47725018_47725019insC ENST00000449228.1 - 4 888_889 c.725_726insG c.(724-726)gagfs p.E242fs BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000300880.7_Frame_Shift_Ins_p.E82fs|BBC3_ENST00000439096.2_3'UTR NM_001127240.2 NP_001120712.1 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 0 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding endometrium(1)|lung(2)|skin(1) 4 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) GGAGGGGCCTGCCCCCCGAGTC 0.693 3 5 --- --- --- --- SNAP25-AS1 100131208 broad.mit.edu 37 20 10130250 10130253 + RNA DEL ACAC ACAC - rs35169984 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr20:10130250_10130253delACAC ENST00000603542.1 - 0 638 SNAP25-AS1_ENST00000605592.1_RNA|SNAP25-AS1_ENST00000426491.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000451151.1_RNA NR_040710.1 ATTCACCAAAacacacacacacac 0.397 3 5 --- --- --- --- LOC100505664 100505664 broad.mit.edu 37 20 23169661 23169663 + RNA DEL TGT TGT - rs11470442 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr20:23169661_23169663delTGT ENST00000411595.1 + 0 31 gtgtatgtgatgttggtgtgtgt 0.433 4 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11072720 11072721 + RNA DEL AC AC - rs145587512 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr21:11072720_11072721delAC 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) aaaaaaaaaaacagtggccagg 0.431 3 6 --- --- --- --- CYP4F29P 54055 broad.mit.edu 37 21 15218287 15218288 + RNA INS - - T rs147525289 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr21:15218287_15218288insT ENST00000428301.1 - 0 595 NR_026755.1|NR_047508.1 cctcagagtcacccacccaaag 0.535 2 4 --- --- --- --- AP000476.1 0 broad.mit.edu 37 21 25818048 25818048 + RNA DEL A A - rs145414948 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr21:25818048delA ENST00000453784.2 + 0 650 TCAAAAACAGAAAAAAAAAAA 0.299 2 4 --- --- --- --- AF131217.1 0 broad.mit.edu 37 21 29847318 29847319 + RNA INS - - G rs146335554 TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr21:29847318_29847319insG ENST00000433310.1 - 0 456 GTGGTTGAGGAGGGGGGGGTGG 0.460 5 3 --- --- --- --- GRIK1 2897 broad.mit.edu 37 21 30953835 30953835 + Frame_Shift_Del DEL G G - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr21:30953835delG ENST00000399914.1 - 12 2298 c.1777delC c.(1777-1779)acfs p.H593fs GRIK1_ENST00000399913.1_Frame_Shift_Del_p.H608fs|GRIK1_ENST00000309434.7_Frame_Shift_Del_p.H610fs|GRIK1_ENST00000389124.2_Frame_Shift_Del_p.H608fs|GRIK1_ENST00000535441.1_Frame_Shift_Del_p.H610fs|GRIK1_ENST00000327783.4_Frame_Shift_Del_p.H608fs|GRIK1_ENST00000399909.1_Frame_Shift_Del_p.H593fs|GRIK1_ENST00000389125.3_Frame_Shift_Del_p.H593fs|GRIK1_ENST00000399907.1_Frame_Shift_Del_p.H608fs P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 608 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity 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) TTGCATGGGTGGGGGTTATAC 0.448 11 62 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 3 6 --- --- --- --- NCBP2L 392517 broad.mit.edu 37 X 107027089 107027090 + RNA DEL TG TG - TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7495a00-b312-4502-9e1b-9e5f3dbf4b5d 1c954e59-5ef6-4a1a-a28a-8f9f05adb632 g.chrX:107027089_107027090delTG ENST00000509000.1 + 0 126 ggtgtgcgtatgtgtgtgtgtg 0.421 2 4 --- --- --- ---