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 FOXR2 139628 broad.mit.edu 37 X 55650340 55650340 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:55650340A>T ENST00000339140.3 + 1 508 c.196A>T c.(196-198)Agt>Tgt p.S66C NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 66 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 GAGGAGACCCAGTCCTGATGG 0.557000 45 53 0 0 0.139131 0 0 OR8B2 26595 broad.mit.edu 37 11 124252875 124252875 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:124252875C>A ENST00000375013.2 - 1 383 c.365G>T c.(364-366)cGc>cTc p.R122L NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GGCCACATAGCGATCATATGC 0.413000 41 33 1.15183e-24 1.41892e-24 0.111260 1 0 KCNB2 9312 broad.mit.edu 37 8 73849938 73849938 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:73849938G>T ENST00000523207.1 + 3 2936 c.2348G>T c.(2347-2349)gGg>gTg p.G783V NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 783 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CCTTCCAAAGGGCTGTCCCCC 0.522000 54 65 4.44712e-29 5.67008e-29 0.139131 1 0 SERPINA3 12 broad.mit.edu 37 14 95090116 95090116 + Missense_Mutation SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr14:95090116T>C ENST00000553947.1 + 8 2200 c.1312T>C c.(1312-1314)Ttc>Ctc p.F438L SERPINA3_ENST00000393078.3_Missense_Mutation_p.F413L|SERPINA3_ENST00000467132.1_Missense_Mutation_p.F413L|SERPINA3_ENST00000482740.1_Missense_Mutation_p.F195L|SERPINA3_ENST00000393080.4_Missense_Mutation_p.F413L P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 413 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GAACATCTTCTTCATGAGCAA 0.498000 72 127 0 0 0.139131 0 0 TUSC3 7991 broad.mit.edu 37 8 15605885 15605885 + Splice_Site SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:15605885A>T ENST00000382020.4 + 9 1147 c.937_splice c.e9-1 p.I313_splice TUSC3_ENST00000503731.1_Splice_Site_p.I313_splice|TUSC3_ENST00000506802.1_Intron NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 313 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) TGTTTCTAGTAATTTGCCTAG 0.328000 122 120 0 0 0.139131 0 0 KIF1B 23095 broad.mit.edu 37 1 10435101 10435101 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:10435101G>A ENST00000377086.1 + 47 5488 c.5286G>A c.(5284-5286)gtG>gtA p.V1762V KIF1B_ENST00000263934.6_Silent_p.V1716V|KIF1B_ENST00000377081.1_Silent_p.V1762V O60333 KIF1B_HUMAN kinesin family member 1B 1762 PH. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AGGCCATGGTGAAGGTCCGTC 0.493000 49 28 0 0 0.139131 0 0 TEX15 56154 broad.mit.edu 37 8 30699765 30699765 + Nonsense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:30699765G>A ENST00000256246.2 - 1 6843 c.6769C>T c.(6769-6771)Caa>Taa p.Q2257* NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2257 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TACAGCATTTGGCATAGGAAA 0.303000 49 54 0 0 0.139131 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846939 47846939 + Silent SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:47846939T>A ENST00000339488.4 - 3 1674 c.1641A>T c.(1639-1641)gcA>gcT p.A547A NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 547 integral to membrane hedgehog receptor activity CCCAGGACACTGCAGTGAATC 0.468000 26 14 0 0 0.125774 0 0 FAM47C 442444 broad.mit.edu 37 X 37028942 37028942 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:37028942G>T ENST00000358047.3 + 1 2511 c.2459G>T c.(2458-2460)gGa>gTa p.G820V NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 820 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ACCAAGACCGGAGCGTCCCAT 0.547000 53 66 5.22555e-25 6.46853e-25 0.139131 1 0 XIRP2 129446 broad.mit.edu 37 2 168106972 168106972 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:168106972G>T ENST00000409195.1 + 9 9159 c.9070G>T c.(9070-9072)Gtg>Ttg p.V3024L XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2802L|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3024L NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2849 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGATATGCTTGTGTCCTATGA 0.343000 130 150 9.11594e-60 1.27025e-59 0.139131 1 0 RAP1GDS1 5910 broad.mit.edu 37 4 99339876 99339876 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:99339876G>T ENST00000408927.3 + 10 1221 c.1108G>T c.(1108-1110)Gta>Tta p.V370L RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V371L|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V321L|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V279L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V371L|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V322L NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 370 binding|GTPase activator activity p.V371L(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GGACAGACATGTAGAAGATGG 0.378000 T NUP98 T-ALL 4 94 0.0293803 0.0314789 0.029380 1 0 HMGN2P46 283651 broad.mit.edu 37 15 45847914 45847914 + RNA SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr15:45847914T>A ENST00000409454.1 + 0 909 CAAGGTTAAGTAGGAACTGCA 0.537000 28 51 0 0 0.134883 0 0 BMP3 651 broad.mit.edu 37 4 81967347 81967347 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:81967347A>G ENST00000282701.2 + 2 1092 c.772A>G c.(772-774)Agc>Ggc p.S258G NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 258 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 TGTGGTATCAAGCTTACAGGG 0.507000 54 59 0 0 0.139131 0 0 ACOT12 134526 broad.mit.edu 37 5 80655735 80655735 + Silent SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr5:80655735A>G ENST00000307624.3 - 5 511 c.483T>C c.(481-483)agT>agC p.S161S ACOT12_ENST00000513751.1_Silent_p.S161S NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 161 acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CAAATTTGCTACTTTCCTTCA 0.333000 57 1 0 0 0.139131 0 0 RABGAP1 23637 broad.mit.edu 37 9 125852587 125852587 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:125852587A>T ENST00000373647.4 + 21 2685 c.2551A>T c.(2551-2553)Agg>Tgg p.R851W RABGAP1_ENST00000373643.5_Missense_Mutation_p.R190W NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 851 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 AGCTAACATGAGGTTGGAACA 0.463000 3 43 0 0 0.009096 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649784 75649784 + Silent SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:75649784C>A ENST00000361470.2 + 1 1739 c.1461C>A c.(1459-1461)ccC>ccA p.P487P NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 487 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCCTGAAGCCCCAAGACCCTA 0.502000 22 24 1.50039e-11 1.69292e-11 0.062417 1 0 NLRP3 114548 broad.mit.edu 37 1 247587297 247587297 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:247587297G>A ENST00000366497.2 + 4 1332 c.552G>A c.(550-552)gaG>gaA p.E184E NLRP3_ENST00000348069.2_Silent_p.E184E|NLRP3_ENST00000336119.3_Silent_p.E184E|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.E184E|NLRP3_ENST00000366496.2_Silent_p.E184E|NLRP3_ENST00000391828.3_Silent_p.E184E NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 184 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGGAGAGGGAGCAGGAGCTTC 0.562000 21 38 0 0 0.076483 0 0 SLC20A2 6575 broad.mit.edu 37 8 42302222 42302222 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:42302222G>A ENST00000342228.3 - 6 1041 c.672C>T c.(670-672)ctC>ctT p.L224L SLC20A2_ENST00000520262.1_Silent_p.L224L|SLC20A2_ENST00000520179.1_Silent_p.L224L NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 224 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAGCGAACAGGAGGGCGACAC 0.488000 14 28 0 0 0.119110 0 0 PIBF1 10464 broad.mit.edu 37 13 73539483 73539483 + Missense_Mutation SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr13:73539483G>C ENST00000326291.6 + 15 2243 c.1905G>C c.(1903-1905)caG>caC p.Q635H NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 635 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) CAGTGCGTCAGAGAGATTCTA 0.353000 26 0 0 0 0.108266 0 0 HIST2H2BB 338391 broad.mit.edu 37 1 149375122 149375122 + RNA SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:149375122T>A ENST00000415338.1 - 0 1061 GCAAAGCCTTTAAGTTTTTCC 0.453000 71 186 0 0 0.139131 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745306 37745306 + Missense_Mutation SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:37745306G>C ENST00000539465.1 + 16 3870 c.3277G>C c.(3277-3279)Gag>Cag p.E1093Q RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1093Q Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1093 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) AAATCCAGGAGAGAAGATAGC 0.403000 49 56 0 0 0.139131 0 0 EPO 2056 broad.mit.edu 37 7 100319219 100319219 + Missense_Mutation SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr7:100319219T>A ENST00000252723.2 + 2 233 c.52T>A c.(52-54)Tcg>Acg p.S18T NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 18 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GTCCCTGCTGTCGCTCCCTCT 0.632000 4 8 0 0 0.021553 0 0 FRMPD4 9758 broad.mit.edu 37 X 12725742 12725742 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:12725742G>A ENST00000380682.1 + 13 1948 c.1442G>A c.(1441-1443)cGg>cAg p.R481Q NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 481 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AGCTTGGTGCGGGTAGAACTC 0.473000 83 92 0 0 0.139131 0 0 FAM167A 83648 broad.mit.edu 37 8 11282067 11282067 + Missense_Mutation SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:11282067C>T ENST00000284486.4 - 3 998 c.460G>A c.(460-462)Gaa>Aaa p.E154K FAM167A_ENST00000531564.1_5'UTR|C8orf12_ENST00000284481.3_Intron|FAM167A_ENST00000528897.1_Missense_Mutation_p.E154K|C8orf12_ENST00000529305.1_Intron|FAM167A_ENST00000534308.1_Missense_Mutation_p.E154K NM_053279.2 NP_444509.2 Q96KS9 F167A_HUMAN family with sequence similarity 167, member A 154 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 CAGGTGTGTTCGATTTTCAGC 0.622000 24 21 0 0 0.083992 0 0 DENND2A 27147 broad.mit.edu 37 7 140285473 140285473 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr7:140285473C>A ENST00000275884.6 - 4 1578 c.1161G>T c.(1159-1161)gaG>gaT p.E387D DENND2A_ENST00000537639.1_Missense_Mutation_p.E387D|DENND2A_ENST00000496613.1_Missense_Mutation_p.E387D|DENND2A_ENST00000492720.1_Missense_Mutation_p.E387D Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 387 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GACCATGTAACTCGATGTCCT 0.493000 100 114 9.99625e-28 1.25569e-27 0.139131 1 0 KMT2C 58508 broad.mit.edu 37 7 151864259 151864259 + Missense_Mutation SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr7:151864259T>C ENST00000355193.2 - 42 9940 c.9722A>G c.(9721-9723)cAa>cGa p.Q3241R KMT2C_ENST00000262189.6_Missense_Mutation_p.Q3241R lysine (K)-specific methyltransferase 2C AACCATGCTTTGCTGTTCAGT 0.388000 90 112 0 0 0.139131 0 0 FRG2B 441581 broad.mit.edu 37 10 135440217 135440217 + Silent SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr10:135440217G>C ENST00000443774.1 - 1 79 c.30C>G c.(28-30)ctC>ctG p.L10L FRG2B_ENST00000425520.1_Silent_p.L10L Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 10 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) AGGAGCAGTGGAGATCGGGGT 0.498000 38 165 0 0 0.139131 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43625067 43625067 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:43625067G>T ENST00000332857.6 - 4 3648 c.3620C>A c.(3619-3621)aCg>aAg p.T1207K NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.T1207M(1) TCCAACTGCCGTCATGAGACC 0.468000 102 94 2.17066e-49 2.94424e-49 0.139131 1 0 FAM50A 9130 broad.mit.edu 37 X 153674843 153674843 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:153674843A>T ENST00000393600.3 + 4 487 c.377A>T c.(376-378)gAg>gTg p.E126V NM_004699.3 NP_004690.1 Q14320 FA50A_HUMAN family with sequence similarity 50, member A 126 spermatogenesis nucleus breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACCCTggaggaggaagaagag 0.607000 7 4 0 0 0.058154 0 0 MUL1 79594 broad.mit.edu 37 1 20827905 20827905 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:20827905A>T ENST00000264198.3 - 4 473 c.337T>A c.(337-339)Tgc>Agc p.C113S NM_024544.2 NP_078820.2 Q969V5 MUL1_HUMAN mitochondrial E3 ubiquitin protein ligase 1 113 activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(5) 11 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) ATCTTTGAGCAATCATTCCTA 0.498000 10 19 0 0 0.069234 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198307 170198307 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr3:170198307G>T ENST00000231706.4 - 7 2079 c.1764C>A c.(1762-1764)gaC>gaA p.D588E CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 588 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CTGAGATGTAGTCAGAACCAA 0.557000 4 127 0.00909568 0.00982796 0.009096 1 0 ZNF44 51710 broad.mit.edu 37 19 12383596 12383596 + Missense_Mutation SNP A A C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:12383596A>C ENST00000356109.5 - 5 1736 c.1618T>G c.(1618-1620)Tgt>Ggt p.C540G ZNF44_ENST00000355684.5_Missense_Mutation_p.C492G NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 540 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TCATGGCGACAAAAGTATTTA 0.358000 30 23 0 0 0.050027 0 0 ATF4P4 100127952 broad.mit.edu 37 11 113661455 113661455 + RNA SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:113661455C>T ENST00000393544.2 + 0 1503 AGACGGTGAACCCAATTGGCC 0.527000 51 68 0 0 0.139131 0 0 NCOA3 8202 broad.mit.edu 37 20 46265192 46265192 + Missense_Mutation SNP T T G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr20:46265192T>G ENST00000372004.3 + 12 2278 c.2062T>G c.(2062-2064)Ttg>Gtg p.L688V NCOA3_ENST00000371997.3_Missense_Mutation_p.L698V|NCOA3_ENST00000371998.3_Missense_Mutation_p.L688V|NCOA3_ENST00000341724.6_Missense_Mutation_p.L698V NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 688 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TTTGCACAAGTTGCTGCAGAA 0.493000 41 59 0 0 0.092188 0 0 PEX5 5830 broad.mit.edu 37 12 7361712 7361712 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr12:7361712G>A ENST00000266563.5 + 13 1578 c.1395G>A c.(1393-1395)ggG>ggA p.G465G PEX5_ENST00000434354.2_Silent_p.G517G|PEX5_ENST00000455147.2_Silent_p.G502G|PEX5_ENST00000266564.3_Silent_p.G494G|PEX5_ENST00000412720.2_Silent_p.G523G|PEX5_ENST00000420616.2_Silent_p.G502G NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 502 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 ACCTGAGTGGGGAGTATGACA 0.552000 54 42 0 0 0.139131 0 0 SPTA1 6708 broad.mit.edu 37 1 158607871 158607871 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:158607871G>T ENST00000368148.3 - 36 5321 c.5141C>A c.(5140-5142)gCc>gAc p.A1714D SPTA1_ENST00000368147.3_Missense_Mutation_p.A1714D NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1714 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGGAACAAGGCATAGGCCTC 0.413000 92 210 5.00475e-40 6.68173e-40 0.139131 1 0 PTGFRN 5738 broad.mit.edu 37 1 117509848 117509848 + Missense_Mutation SNP T T G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:117509848T>G ENST00000393203.2 + 6 2102 c.1955T>G c.(1954-1956)cTg>cGg p.L652R PTGFRN_ENST00000496699.1_3'UTR NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 652 Ig-like C2-type 5. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GACGCAGGGCTGTACCGCTGC 0.532000 93 92 0 0 0.139131 0 0 SYCP2 10388 broad.mit.edu 37 20 58467212 58467212 + Missense_Mutation SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr20:58467212T>C ENST00000357552.3 - 24 2422 c.2197A>G c.(2197-2199)Att>Gtt p.I733V SYCP2_ENST00000371001.2_Missense_Mutation_p.I733V Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 733 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATTCTTCAATTGTCTTATTT 0.343000 118 114 0 0 0.139131 0 0 GAS7 8522 broad.mit.edu 37 17 9821344 9821344 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr17:9821344G>A ENST00000396115.1 - 13 1421 c.1111C>T c.(1111-1113)Cat>Tat p.H371Y GAS7_ENST00000579158.1_Missense_Mutation_p.H383Y|GAS7_ENST00000585266.1_Missense_Mutation_p.H367Y|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.H367Y|GAS7_ENST00000432992.2_Missense_Mutation_p.H431Y|GAS7_ENST00000542249.1_Missense_Mutation_p.H376Y|GAS7_ENST00000580865.1_Missense_Mutation_p.H291Y|GAS7_ENST00000540214.1_Missense_Mutation_p.H136Y|GAS7_ENST00000323816.4_Missense_Mutation_p.H367Y NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 431 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 TCTGTTTCATGCCGCAGCTGC 0.637000 T MLL AML* 39 2 0 0 0.092188 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33667501 33667501 + Silent SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:33667501G>C ENST00000321505.4 + 16 4968 c.4788G>C c.(4786-4788)ggG>ggC p.G1596G KIAA1549L_ENST00000389726.3_Silent_p.G1602G KIAA1549-like GCGCTCCGGGGACCATGACGC 0.677000 8 0 0 0 0.047766 0 0 FERD3L 222894 broad.mit.edu 37 7 19184854 19184854 + Silent SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr7:19184854A>G ENST00000275461.3 - 1 190 c.132T>C c.(130-132)ctT>ctC p.L44L AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 44 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CTCGGAGCGCAAGGGCTGGGT 0.662000 4 148 0 0 0.014758 0 0 ZNF839 55778 broad.mit.edu 37 14 102798180 102798180 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr14:102798180G>A ENST00000262236.5 + 3 1420 c.1065G>A c.(1063-1065)aaG>aaA p.K355K ZNF839_ENST00000558850.1_Silent_p.K355K|ZNF839_ENST00000442396.2_Silent_p.K471K|ZNF839_ENST00000559185.1_Silent_p.K355K NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 355 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CCAGGCTCAAGGAGGTACCTC 0.557000 4 9 0 0 0.021553 0 0 SMYD5 10322 broad.mit.edu 37 2 73446058 73446058 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:73446058G>T ENST00000389501.4 + 2 211 c.166G>T c.(166-168)Gct>Tct p.A56S SMYD5_ENST00000474652.1_3'UTR NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 56 metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 GCCCCTGGTGGCTGCACAGTT 0.552000 14 13 1.5739e-10 1.76028e-10 0.146539 1 0 SVEP1 79987 broad.mit.edu 37 9 113170491 113170491 + Silent SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:113170491G>C ENST00000401783.2 - 38 7725 c.7389C>G c.(7387-7389)ctC>ctG p.L2463L SVEP1_ENST00000374469.1_Silent_p.L2440L|SVEP1_ENST00000297826.5_Silent_p.L389L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2463 Sushi 18. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.L2466L(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGCAGGTATAGAGAGCTGTGC 0.478000 11 20 0 0 0.093190 0 0 PLSCR2 57047 broad.mit.edu 37 3 146171851 146171851 + Missense_Mutation SNP C C G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr3:146171851C>G ENST00000497985.1 - 7 1079 c.640G>C c.(640-642)Gat>Cat p.D214H PLSCR2_ENST00000336685.2_Missense_Mutation_p.D141H NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 141 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 TTTAGTACATCCTCTCTTTTC 0.378000 33 93 0 0 0.069456 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649783 75649783 + Missense_Mutation SNP C C A rs143682541 byFrequency TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:75649783C>A ENST00000361470.2 + 1 1738 c.1460C>A c.(1459-1461)cCc>cAc p.P487H NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 487 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 ACCCTGAAGCCCCAAGACCCT 0.507000 22 24 1.10513e-12 1.26372e-12 0.069288 1 0 CSMD3 114788 broad.mit.edu 37 8 113421176 113421176 + Silent SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:113421176C>A ENST00000297405.5 - 33 5725 c.5481G>T c.(5479-5481)ctG>ctT p.L1827L CSMD3_ENST00000455883.2_Silent_p.L1723L|CSMD3_ENST00000343508.3_Silent_p.L1787L|CSMD3_ENST00000352409.3_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1827 CUB 10. 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 GGGAAGATAACAGAGAAGATT 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 112 161 1.22322e-63 1.71385e-63 0.139131 1 0 FCGR2A 2212 broad.mit.edu 37 1 161476251 161476251 + Silent SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:161476251T>C ENST00000271450.6 + 3 272 c.234T>C c.(232-234)aaT>aaC p.N78N FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.N77N NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 78 Ig-like C2-type 1. integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGTTCCACAATGGGAATCTCA 0.592000 63 39 0 0 0.139131 0 0 PLA2G5 5322 broad.mit.edu 37 1 20416369 20416369 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:20416369G>A ENST00000375108.3 + 4 541 c.273G>A c.(271-273)gcG>gcA p.A91A PLA2G5_ENST00000486277.1_3'UTR NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V 91 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity p.A91A(1) NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) ACAGATTCGCGTGGGGCGTGG 0.587000 14 30 0 0 0.105934 0 0 PLD2 5338 broad.mit.edu 37 17 4713045 4713045 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr17:4713045G>T ENST00000263088.6 + 8 805 c.674G>T c.(673-675)gGc>gTc p.G225V PLD2_ENST00000572940.1_Missense_Mutation_p.G225V NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 225 PH. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) ACCTGCTGTGGCCGAGACCAA 0.597000 59 5 4.45325e-31 5.76436e-31 0.139131 1 0 PTPRB 5787 broad.mit.edu 37 12 70974895 70974895 + Silent SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr12:70974895G>T ENST00000334414.6 - 10 2543 c.2499C>A c.(2497-2499)tcC>tcA p.S833S PTPRB_ENST00000551525.1_Silent_p.S832S|PTPRB_ENST00000550857.1_Silent_p.S525S|PTPRB_ENST00000550358.1_Silent_p.S833S|PTPRB_ENST00000538708.1_Silent_p.S615S|PTPRB_ENST00000261266.5_Silent_p.S615S|PTPRB_ENST00000451516.2_Silent_p.S525S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 615 Fibronectin type-III 10. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACAGGCTGCCGGACTTGAGAG 0.453000 41 46 5.05997e-48 6.82694e-48 0.139131 1 0 DHRS2 10202 broad.mit.edu 37 14 24108203 24108203 + Missense_Mutation SNP T T G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr14:24108203T>G ENST00000250383.6 + 2 606 c.130T>G c.(130-132)Tcc>Gcc p.S44A DHRS2_ENST00000344777.7_Missense_Mutation_p.S44A|DHRS2_ENST00000553896.1_3'UTR NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 22 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) GGTCACGGGGTCCACCAGTGG 0.602000 24 60 0 0 0.050027 0 0 THSD7B 80731 broad.mit.edu 37 2 137814684 137814684 + Silent SNP C C G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:137814684C>G ENST00000409968.1 + 3 1012 c.834C>G c.(832-834)acC>acG p.T278T THSD7B_ENST00000272643.3_Silent_p.T278T|THSD7B_ENST00000413152.2_Silent_p.T247T|THSD7B_ENST00000543459.1_Silent_p.T137T thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGCGAGTCACCTTTAAACATC 0.403000 54 79 0 0 0.139131 0 0 CA4 762 broad.mit.edu 37 17 58234824 58234824 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr17:58234824G>A ENST00000300900.4 + 4 404 c.305G>A c.(304-306)gGa>gAa p.G102E NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 102 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) AGCATTTCTGGAGGAGGACTG 0.577000 71 0 0 0 0.139131 0 0 MPO 4353 broad.mit.edu 37 17 56350206 56350206 + Silent SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr17:56350206C>T ENST00000340482.3 - 9 1967 c.1791G>A c.(1789-1791)gtG>gtA p.V597V MPO_ENST00000225275.3_Silent_p.V565V P05164 PERM_HUMAN myeloperoxidase 565 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GGATCTCATCCACTGCAATTT 0.617000 73 3 0 0 0.139131 0 0 FAT4 79633 broad.mit.edu 37 4 126412316 126412316 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:126412316A>G ENST00000394329.3 + 17 14352 c.14339A>G c.(14338-14340)gAa>gGa p.E4780G FAT4_ENST00000335110.5_Missense_Mutation_p.E3021G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4780 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATTCCACTGGAATCTTCTCCT 0.532000 43 43 0 0 0.139131 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946471 16946471 + RNA SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:16946471G>C ENST00000412962.1 - 0 1048 CGCTGCAGCTGACTCTGCAGC 0.677000 2 4 0 0 0.115264 0 0 SORCS1 114815 broad.mit.edu 37 10 108716299 108716299 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr10:108716299C>A ENST00000263054.6 - 2 605 c.598G>T c.(598-600)Ggg>Tgg p.G200W SORCS1_ENST00000344440.6_Missense_Mutation_p.G200W NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 200 integral to membrane neuropeptide receptor activity|protein binding p.G200W(2) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GTGATGCTCCCCAGGTTATAG 0.403000 38 47 5.20837e-25 6.46853e-25 0.104719 1 0 KIAA1549L 25758 broad.mit.edu 37 11 33667500 33667500 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:33667500G>A ENST00000321505.4 + 16 4967 c.4787G>A c.(4786-4788)gGg>gAg p.G1596E KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G1602E KIAA1549-like AGCGCTCCGGGGACCATGACG 0.672000 8 0 0 0 0.047766 0 0 SHC3 53358 broad.mit.edu 37 9 91656987 91656987 + Silent SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:91656987C>T ENST00000375835.4 - 10 1620 c.1314G>A c.(1312-1314)gcG>gcA p.A438A SHC3_ENST00000375831.1_5'UTR|SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 438 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CACTGCTGACCGCAGCCGGCC 0.542000 6 98 0 0 0.029380 0 0 GBA 2629 broad.mit.edu 37 1 155206036 155206036 + Splice_Site SNP C C T rs138498426 TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:155206036C>T ENST00000428024.2 - 7 1465 c.963_splice c.e7+1 p.T321_splice GBA_ENST00000536770.1_Splice_Site_p.T295_splice|GBA_ENST00000327247.5_Splice_Site_p.T408_splice|GBA_ENST00000427500.2_Splice_Site_p.T359_splice|GBA_ENST00000368373.3_Splice_Site_p.T408_splice NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 408 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) GGTGGCTTACCGTGATGATGC 0.567000 Gaucher disease type I 21 3 0 0 0.054565 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125671821 125671821 + Missense_Mutation SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:125671821T>A ENST00000431078.1 + 24 4241 c.3877T>A c.(3877-3879)Ttg>Atg p.L1293M NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1293 cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGAAATTGACTTGCAAAACAC 0.433000 87 78 0 0 0.139131 0 0 CBLN1 869 broad.mit.edu 37 16 49315227 49315227 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr16:49315227G>A ENST00000219197.6 - 1 515 c.150C>T c.(148-150)gcC>gcT p.A50A CBLN1_ENST00000536749.1_Silent_p.A50A NM_004352.3 NP_004343.1 P23435 CBLN1_HUMAN cerebellin 1 precursor 50 nervous system development|synaptic transmission cell junction|extracellular region|synapse breast(1)|kidney(3)|large_intestine(2)|lung(3) 9 all_cancers(37;0.0766)|all_lung(18;0.24) AGATGCCCAGGGCAGTGCCCG 0.652000 4 15 0 0 0.009096 0 0 LIN7C 55327 broad.mit.edu 37 11 27521053 27521053 + Silent SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:27521053T>C ENST00000278193.2 - 4 311 c.291A>G c.(289-291)ccA>ccG p.P97P LIN7C_ENST00000524596.1_Silent_p.P73P NM_018362.3 NP_060832.1 Q9NUP9 LIN7C_HUMAN lin-7 homolog C (C. elegans) 97 PDZ. exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 5 CTTCTGTTTTTGGTAGCTCAA 0.383000 87 3 0 0 0.139131 0 0 ENOSF1 55556 broad.mit.edu 37 18 683371 683371 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr18:683371C>A ENST00000319815.6 - 3 1325 c.61G>T c.(61-63)Gcc>Tcc p.A21S ENOSF1_ENST00000251101.7_Missense_Mutation_p.A251S|ENOSF1_ENST00000340116.7_Missense_Mutation_p.A272S|ENOSF1_ENST00000580982.1_Missense_Mutation_p.A175S|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.A169S Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 251 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 CGCTGGTTGGCATCCATCATC 0.572000 40 45 5.85753e-14 6.75869e-14 0.139131 1 0 BAI3 577 broad.mit.edu 37 6 69653863 69653863 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:69653863C>A ENST00000370598.1 + 6 1993 c.1172C>A c.(1171-1173)cCt>cAt p.P391H NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 391 TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CATCATAAGCCTTGTAATATT 0.408000 119 142 1.08021e-59 1.49702e-59 0.139131 1 0 RHBDL2 54933 broad.mit.edu 37 1 39352285 39352285 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:39352285A>T ENST00000289248.2 - 8 1811 c.803T>A c.(802-804)tTt>tAt p.F268Y RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.F348Y|RHBDL2_ENST00000538156.1_Missense_Mutation_p.F335Y|RHBDL2_ENST00000372990.1_Missense_Mutation_p.F268Y Q9NX52 RHBL2_HUMAN rhomboid, veinlet-like 2 (Drosophila) 268 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 8 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TGCTTTATCAAAGCAGCTAAA 0.408000 49 61 0 0 0.139131 0 0 RYR2 6262 broad.mit.edu 37 1 237753195 237753195 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:237753195A>T ENST00000366574.2 + 30 4018 c.3701A>T c.(3700-3702)gAg>gTg p.E1234V RYR2_ENST00000360064.6_Missense_Mutation_p.E1232V|RYR2_ENST00000542537.1_Missense_Mutation_p.E1218V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1234 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGCTTACAAGAGGGCTATGAA 0.438000 58 105 0 0 0.139131 0 0 POLR1B 84172 broad.mit.edu 37 2 113309471 113309471 + Silent SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:113309471T>C ENST00000263331.5 + 6 1462 c.882T>C c.(880-882)tgT>tgC p.C294C POLR1B_ENST00000409894.3_Silent_p.C294C|POLR1B_ENST00000541869.1_Silent_p.C332C|POLR1B_ENST00000417433.2_Silent_p.C238C|POLR1B_ENST00000537335.1_Silent_p.C83C NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 294 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 AAGAGGGTTGTTCGACACAAA 0.413000 107 112 0 0 0.139131 0 0 LYPD5 284348 broad.mit.edu 37 19 44302658 44302658 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:44302658A>T ENST00000377950.3 - 4 546 c.466T>A c.(466-468)Tgt>Agt p.C156S LYPD5_ENST00000594013.1_Missense_Mutation_p.C113S|LYPD5_ENST00000414615.2_Missense_Mutation_p.C113S NM_001031749.2 NP_001026919.2 Q6UWN5 LYPD5_HUMAN LY6/PLAUR domain containing 5 156 UPAR/Ly6. anchored to membrane|plasma membrane breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 8 Prostate(69;0.0352) TCCTGGTGACACTGGACTCGT 0.652000 45 47 0 0 0.139131 0 0 PGM5 5239 broad.mit.edu 37 9 71098888 71098888 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:71098888G>A ENST00000396396.1 + 9 1632 c.1403G>A c.(1402-1404)aGc>aAc p.S468N NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 468 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 GCTGTGGGGAGCCATGTCTAC 0.498000 153 158 0 0 0.139131 0 0 FRYL 285527 broad.mit.edu 37 4 48622683 48622683 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:48622683C>A ENST00000537810.1 - 6 891 c.287G>T c.(286-288)aGg>aTg p.R96M FRYL_ENST00000264319.7_De_novo_Start_InFrame|FRYL_ENST00000507711.1_Missense_Mutation_p.R96M|FRYL_ENST00000503238.1_Missense_Mutation_p.R96M|FRYL_ENST00000358350.4_Missense_Mutation_p.R96M O94915 FRYL_HUMAN FRY-like 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 AGACCGAGGCCTATATTCATA 0.428000 5 315 0.0215528 0.0231897 0.021553 1 0 ZNF148 7707 broad.mit.edu 37 3 125032482 125032482 + Translation_Start_Site SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr3:125032482C>T ENST00000360647.4 - 4 488 c.3G>A c.(1-3)atG>atA p.M1I ZNF148_ENST00000485866.1_Start_Codon_SNP_p.M1I|ZNF148_ENST00000492394.1_Start_Codon_SNP_p.M1I|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Start_Codon_SNP_p.M1I NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 1 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 CGTCAATGTTCATGCTTAAGT 0.353000 93 229 0 0 0.139131 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123130282 123130282 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:123130282G>A ENST00000368440.4 + 8 1268 c.1091G>A c.(1090-1092)gGa>gAa p.G364E SMPDL3A_ENST00000539041.1_Missense_Mutation_p.G233E NM_006714.3 NP_006705.1 Q92484 ASM3A_HUMAN sphingomyelin phosphodiesterase, acid-like 3A 364 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(226;0.236) AATCTAAAGGGAGAGTCCATC 0.403000 46 57 0 0 0.139131 0 0 PADI2 11240 broad.mit.edu 37 1 17395646 17395646 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:17395646A>T ENST00000375486.4 - 16 1954 c.1891T>A c.(1891-1893)Ttc>Atc p.F631I PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.F515I NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 631 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) TCGTCGATGAAGGTGCATTCG 0.597000 4 189 0 0 0.009096 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21750345 21750345 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr18:21750345G>A ENST00000319481.3 - 24 2570 c.2364C>T c.(2362-2364)gaC>gaT p.D788D OSBPL1A_ENST00000399443.3_Silent_p.D275D|OSBPL1A_ENST00000357041.4_Silent_p.D406D NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 788 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TTTTGTAAGCGTCAAACGTGG 0.383000 5 288 0 0 0.014758 0 0 SETD1A 9739 broad.mit.edu 37 16 30977308 30977308 + Silent SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr16:30977308C>T ENST00000262519.8 + 8 2792 c.2106C>T c.(2104-2106)gcC>gcT p.A702A NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 702 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 TGATTGCCGCCTCAGCTGGCC 0.637000 20 21 0 0 0.062417 0 0 MAGEB4 4115 broad.mit.edu 37 X 30261205 30261205 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:30261205G>T ENST00000378982.2 + 1 1149 c.953G>T c.(952-954)cGg>cTg p.R318L NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 318 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 GCTGGAGCCCGGCCCAGAGTT 0.532000 24 18 2.27525e-19 2.7239e-19 0.091800 1 0 ADGRG1 9289 broad.mit.edu 37 16 57697403 57697403 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr16:57697403A>G ENST00000562631.1 + 14 2505 c.1973A>G c.(1972-1974)cAg>cGg p.Q658R GPR56_ENST00000388812.4_Missense_Mutation_p.Q664R|GPR56_ENST00000388813.5_Missense_Mutation_p.Q658R|GPR56_ENST00000538815.1_Missense_Mutation_p.Q658R|GPR56_ENST00000567835.1_Missense_Mutation_p.Q664R|GPR56_ENST00000456916.1_Missense_Mutation_p.Q664R|GPR56_ENST00000379694.4_Missense_Mutation_p.Q494R|GPR56_ENST00000562558.1_Missense_Mutation_p.Q658R|GPR56_ENST00000540164.2_Missense_Mutation_p.Q658R|GPR56_ENST00000544297.1_Missense_Mutation_p.Q483R|GPR56_ENST00000568908.1_Missense_Mutation_p.Q658R|GPR56_ENST00000379696.3_Missense_Mutation_p.Q664R|GPR56_ENST00000568909.1_Missense_Mutation_p.Q664R Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 664 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 ATGCGGCTGCAGGCCCGGGGT 0.682000 3 21 0 0 0.009096 0 0 AP1B1 162 broad.mit.edu 37 22 29735760 29735760 + Missense_Mutation SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr22:29735760C>T ENST00000357586.2 - 15 2188 c.2002G>A c.(2002-2004)Ggg>Agg p.G668R AP1B1_ENST00000415447.1_Intron|AP1B1_ENST00000405198.1_Missense_Mutation_p.G668R|AP1B1_ENST00000317368.7_Intron|AP1B1_ENST00000356015.2_Intron|AP1B1_ENST00000402502.1_Intron|AP1B1_ENST00000432560.2_Intron|AP1B1_ENST00000472057.1_Intron NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 668 Pro-rich (stalk region). endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GGCTCATCCCCCATCTCCAAG 0.577000 6 1 0 0 0.029380 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115529654 115529654 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr10:115529654G>A ENST00000361048.1 + 7 874 c.547G>A c.(547-549)Gac>Aac p.D183N PLEKHS1_ENST00000369310.3_Missense_Mutation_p.D177N|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.D95N NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 TGGTCTCCAAGACAAGGTAAT 0.478000 70 75 0 0 0.139131 0 0 KIF7 374654 broad.mit.edu 37 15 90188567 90188567 + Splice_Site SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr15:90188567C>A ENST00000394412.3 - 9 2114 c.2038_splice c.e9+1 p.A680_splice NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 680 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CCCAGCTTACCTCTGGACCCT 0.662000 31 24 1.99505e-19 2.39971e-19 0.050027 1 0 SOAT1 6646 broad.mit.edu 37 1 179314114 179314114 + Missense_Mutation SNP C C G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:179314114C>G ENST00000367619.3 + 11 1163 c.1020C>G c.(1018-1020)atC>atG p.I340M SOAT1_ENST00000539888.1_Missense_Mutation_p.I275M|SOAT1_ENST00000535686.1_Missense_Mutation_p.I76M|SOAT1_ENST00000540564.1_Missense_Mutation_p.I282M NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 340 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TGTACTACATCTTTGAAAGGC 0.408000 181 432 0 0 0.139131 0 0 C9orf43 257169 broad.mit.edu 37 9 116187352 116187352 + Silent SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:116187352A>G ENST00000288462.4 + 9 1307 c.861A>G c.(859-861)acA>acG p.T287T C9orf43_ENST00000374165.1_Silent_p.T287T NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 287 breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 ACCTGAAGACAGAAGGTAGAT 0.403000 37 40 0 0 0.104719 0 0 OR8B3 390271 broad.mit.edu 37 11 124266883 124266883 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:124266883C>A ENST00000354597.3 - 1 381 c.365G>T c.(364-366)cGc>cTc p.R122L NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122H(1) kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GGCCACATAGCGATCATATGC 0.408000 9 45 1.5842e-08 1.7564e-08 0.105934 1 0 PRDM13 59336 broad.mit.edu 37 6 100056654 100056654 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:100056654G>T ENST00000369214.1 + 2 473 c.212G>T c.(211-213)gGg>gTg p.G71V PRDM13_ENST00000369215.4_Missense_Mutation_p.G61V NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 61 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) GACGAGTCGGGGGGCTCCCCT 0.597000 4 8 2.0095e-06 2.19924e-06 0.029380 1 0 KALRN 8997 broad.mit.edu 37 3 124413264 124413264 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr3:124413264G>A ENST00000360013.3 + 53 7618 c.7491G>A c.(7489-7491)cgG>cgA p.R2497R KALRN_ENST00000428018.2_Silent_p.R768R|KALRN_ENST00000291478.4_Silent_p.R800R NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2496 Ig-like C2-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.R2497R(1)|p.R800R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TCTGTGGGCGGCCAAAGCCCA 0.532000 7 482 0 0 0.038147 0 0 EVC2 132884 broad.mit.edu 37 4 5576458 5576458 + Missense_Mutation SNP A A C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:5576458A>C ENST00000310917.2 - 19 3805 c.3074T>G c.(3073-3075)tTg>tGg p.L1025W EVC2_ENST00000344408.5_Missense_Mutation_p.L1105W|EVC2_ENST00000344938.1_Missense_Mutation_p.L1105W NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1105 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 GTTTTCCAACAAGTCTTCTAG 0.453000 47 50 0 0 0.139131 0 0 PRPH 5630 broad.mit.edu 37 12 49690770 49690770 + Silent SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr12:49690770C>T ENST00000257860.4 + 4 2300 c.801C>T c.(799-801)gaC>gaT p.D267D RP11-161H23.9_ENST00000553259.1_RNA NM_006262.3 NP_006253.2 P41219 PERI_HUMAN peripherin 267 Coil 2.|Rod. structural molecule activity kidney(1)|large_intestine(2)|lung(8)|skin(1) 12 CGCTGAGGGACATCCGCGCGC 0.667000 OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 5 0 0 0.038147 0 0 FRMPD4 9758 broad.mit.edu 37 X 12725741 12725741 + Silent SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:12725741C>A ENST00000380682.1 + 13 1947 c.1441C>A c.(1441-1443)Cgg>Agg p.R481R NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 481 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GAGCTTGGTGCGGGTAGAACT 0.468000 82 90 3.89424e-36 5.14524e-36 0.139131 1 0 SLC22A9 114571 broad.mit.edu 37 11 63143161 63143161 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:63143161C>A ENST00000279178.3 + 5 1124 c.875C>A c.(874-876)cCa>cAa p.P292Q SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 292 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AACAATAAACCAGAGGAAGGC 0.483000 94 92 1.3009e-50 1.77396e-50 0.139131 1 0 ABCG4 64137 broad.mit.edu 37 11 119025058 119025058 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:119025058G>T ENST00000307417.3 + 4 809 c.445G>T c.(445-447)Gat>Tat p.D149Y ABCG4_ENST00000531739.1_Missense_Mutation_p.D149Y|ABCG4_ENST00000449422.2_Missense_Mutation_p.D149Y NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 149 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CATCATGCAAGATGACATGCT 0.582000 36 49 1.90571e-15 2.26026e-15 0.069456 1 0 TET2 54790 broad.mit.edu 37 4 106155487 106155487 + Missense_Mutation SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:106155487G>C ENST00000513237.1 + 3 1248 c.451G>C c.(451-453)Gaa>Caa p.E151Q TET2_ENST00000394764.1_Missense_Mutation_p.E130Q|TET2_ENST00000305737.2_Missense_Mutation_p.E130Q|TET2_ENST00000545826.1_Missense_Mutation_p.E130Q|TET2_ENST00000413648.2_Missense_Mutation_p.E130Q|TET2_ENST00000540549.1_Missense_Mutation_p.E130Q|TET2_ENST00000380013.4_Missense_Mutation_p.E130Q Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 130 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GGTAAGCCAAGAAAGAAATCC 0.408000 """Mis N, F""" MDS 77 71 0 0 0.139131 0 0 TRMT2B 79979 broad.mit.edu 37 X 100276997 100276997 + Missense_Mutation SNP C C G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:100276997C>G ENST00000338687.7 - 8 1481 c.676G>C c.(676-678)Gga>Cga p.G226R TRMT2B_ENST00000372935.1_Missense_Mutation_p.G271R|TRMT2B_ENST00000372939.1_Missense_Mutation_p.G226R|TRMT2B_ENST00000545398.1_Missense_Mutation_p.G271R|TRMT2B_ENST00000372936.3_Missense_Mutation_p.G271R|TRMT2B_ENST00000372931.5_Missense_Mutation_p.G271R Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 271 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 CAGGCTGCTCCAGGACCTCTG 0.463000 31 46 0 0 0.054565 0 0 HTR1E 3354 broad.mit.edu 37 6 87725323 87725323 + Missense_Mutation SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:87725323G>C ENST00000305344.4 + 2 974 c.271G>C c.(271-273)Ggg>Cgg p.G91R HTR1E_ENST00000369584.1_Missense_Mutation_p.G91R NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 91 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.G91R(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CTGGAAGCTTGGGTACTTCCT 0.562000 72 78 0 0 0.139131 0 0 MT-TL1 0 broad.mit.edu 37 MT 3238 3238 + RNA SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrM:3238G>A ENST00000386347.1 + 0 9 TTTgttaagatggcagagccc 0.433000 6 0 0 0 0.029380 0 0 SSBP2 23635 broad.mit.edu 37 5 80762883 80762883 + Splice_Site SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr5:80762883G>C ENST00000515395.1 - 8 536 c.480_splice c.e8-1 p.S161_splice SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000320672.4_Intron|SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000505980.1_Intron P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 189 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) CCAAGGGTCAGACTACCACAA 0.443000 124 3 0 0 0.139131 0 0 HGF 3082 broad.mit.edu 37 7 81374365 81374365 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr7:81374365G>T ENST00000222390.5 - 6 923 c.697C>A c.(697-699)Cag>Aag p.Q233K HGF_ENST00000457544.2_Missense_Mutation_p.Q228K|HGF_ENST00000453411.1_Missense_Mutation_p.Q228K|HGF_ENST00000444829.2_Missense_Mutation_p.Q233K NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 233 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TCCCAGCGCTGACAAATCTTG 0.373000 47 71 4.25531e-23 5.21685e-23 0.139131 1 0 TFB2M 64216 broad.mit.edu 37 1 246707918 246707918 + Silent SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:246707918A>G ENST00000366514.4 - 7 1109 c.924T>C c.(922-924)ttT>ttC p.F308F NM_022366.2 NP_071761.1 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 308 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) AGTTCTTGGTAAATAAATTTT 0.343000 24 47 0 0 0.076483 0 0 KDM3B 51780 broad.mit.edu 37 5 137708496 137708496 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr5:137708496G>A ENST00000314358.5 + 2 526 c.326G>A c.(325-327)gGc>gAc p.G109D NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 109 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CTTCTCCAGGGCATTCGAGTC 0.502000 3 36 0 0 0.115264 0 0 NR5A1 2516 broad.mit.edu 37 9 127262970 127262970 + Missense_Mutation SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:127262970C>T ENST00000373588.4 - 4 465 c.269G>A c.(268-270)gGt>gAt p.G90D NM_004959.4 NP_004950.2 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 90 cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 GTTCCGGCCACCCCTCATACG 0.617000 7 3 0 0 0.038147 0 0 GP2 2813 broad.mit.edu 37 16 20337710 20337710 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr16:20337710C>A ENST00000302555.5 - 2 193 c.44G>T c.(43-45)tGg>tTg p.W15L GP2_ENST00000381360.5_Missense_Mutation_p.W15L|GP2_ENST00000381362.4_Missense_Mutation_p.W15L|GP2_ENST00000341642.5_Missense_Mutation_p.W15L P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 15 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CAAGGCCAGCCACAGGAGGCC 0.527000 27 42 2.61193e-14 3.04129e-14 0.144211 1 0 WNT10A 80326 broad.mit.edu 37 2 219754906 219754906 + Missense_Mutation SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:219754906C>T ENST00000258411.3 + 3 1210 c.577C>T c.(577-579)Ccg>Tcg p.P193S NM_025216.2 NP_079492.2 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, member 10A 193 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCATGGGGTCCCGGAACACCC 0.667000 6 12 0 0 0.029380 0 0 SSPO 23145 broad.mit.edu 37 7 149502581 149502581 + RNA SNP C C G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr7:149502581C>G ENST00000378016.2 + 0 8394 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGGCTGGCGCAGTCGTTCCC 0.677000 5 5 0 0 0.021553 0 0 LRP1B 53353 broad.mit.edu 37 2 141113972 141113972 + Silent SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:141113972T>A ENST00000389484.3 - 75 12440 c.11469A>T c.(11467-11469)acA>acT p.T3823T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3823 EGF-like 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGAAAACAGATGTTTTTATTT 0.333000 TSP Lung(27;0.18) 87 86 0 0 0.139131 0 0 OR13C8 138802 broad.mit.edu 37 9 107331555 107331555 + Missense_Mutation SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:107331555T>C ENST00000335040.1 + 1 107 c.107T>C c.(106-108)cTg>cCg p.L36P NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TGGATGTACCTGATGATCCTG 0.448000 6 614 0 0 0.047766 0 0 PTPRT 11122 broad.mit.edu 37 20 40733347 40733347 + Silent SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr20:40733347C>A ENST00000373198.3 - 26 3703 c.3468G>T c.(3466-3468)gtG>gtT p.V1156V PTPRT_ENST00000373184.1_Silent_p.V1144V|PTPRT_ENST00000373187.1_Silent_p.V1134V|PTPRT_ENST00000373190.1_Silent_p.V1133V|PTPRT_ENST00000373193.3_Silent_p.V1137V|PTPRT_ENST00000373201.1_Silent_p.V1124V|PTPRT_ENST00000356100.2_Silent_p.V1143V NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1134 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CGTGCACAAACACATATTGCT 0.512000 29 29 3.73148e-12 4.22901e-12 0.125774 1 0 DKK2 27123 broad.mit.edu 37 4 107847035 107847035 + Silent SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:107847035C>A ENST00000285311.3 - 2 999 c.294G>T c.(292-294)tcG>tcT p.S98S DKK2_ENST00000513208.1_5'UTR|DKK2_ENST00000510463.1_Silent_p.S52S NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 98 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space p.S98S(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CCATGCAGGCCGATGATCCTT 0.512000 116 114 1.39691e-52 1.91512e-52 0.139131 1 0 DMP1 1758 broad.mit.edu 37 4 88583611 88583611 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:88583611G>A ENST00000339673.6 + 6 780 c.681G>A c.(679-681)agG>agA p.R227R RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Silent_p.R211R NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 227 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) GGAGTGAAAGGGGAAACTCCA 0.517000 52 59 0 0 0.139131 0 0 CD163L1 283316 broad.mit.edu 37 12 7548949 7548949 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr12:7548949C>A ENST00000313599.3 - 8 1849 c.1792G>T c.(1792-1794)Gtg>Ttg p.V598L CD163L1_ENST00000416109.2_Missense_Mutation_p.V608L|CD163L1_ENST00000396630.1_Missense_Mutation_p.V598L Q9NR16 C163B_HUMAN CD163 molecule-like 1 598 SRCR 6. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TGAAAGTACACCTCCAGTCTT 0.552000 26 36 2.80507e-11 3.15107e-11 0.050027 1 0 RIF1 55183 broad.mit.edu 37 2 152300042 152300042 + Splice_Site SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:152300042G>T ENST00000243326.4 + 17 2288 c.e17-1 RIF1_ENST00000428287.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding p.?(1) NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TTTTTGTTCAGGTTCTTTCTC 0.284000 155 190 1.53895e-85 2.16813e-85 0.139131 1 0 UGGT1 56886 broad.mit.edu 37 2 128932405 128932405 + Missense_Mutation SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:128932405G>C ENST00000375990.3 + 31 3843 c.3440G>C c.(3439-3441)cGc>cCc p.R1147P UGGT1_ENST00000259253.6_Missense_Mutation_p.R1171P Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1171 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AGGAAGGGACGCTCTGAAGAT 0.408000 74 78 0 0 0.139131 0 0 OGT 8473 broad.mit.edu 37 X 70793528 70793528 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:70793528A>G ENST00000373719.3 + 22 3242 c.3025A>G c.(3025-3027)Acc>Gcc p.T1009A OGT_ENST00000373701.3_Missense_Mutation_p.T999A NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 1009 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TCTGTTCAACACCAAACAATA 0.428000 23 17 0 0 0.076483 0 0 NCAPH 23397 broad.mit.edu 37 2 97007619 97007619 + Missense_Mutation SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:97007619T>C ENST00000455200.1 + 2 521 c.226T>C c.(226-228)Tcc>Ccc p.S76P NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Missense_Mutation_p.S87P Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 87 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) CTTATTGGCCTCCCCCTCCAG 0.577000 4 55 0 0 0.014758 0 0 ADCY8 114 broad.mit.edu 37 8 131861961 131861961 + Missense_Mutation SNP A A C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:131861961A>C ENST00000286355.5 - 10 4391 c.2299T>G c.(2299-2301)Ttg>Gtg p.L767V ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 767 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ATGAGGGGCAAACATTTATAA 0.468000 HNSCC(32;0.087) 51 42 0 0 0.139131 0 0 MFSD8 256471 broad.mit.edu 37 4 128865085 128865085 + Silent SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:128865085T>C ENST00000296468.3 - 5 388 c.261A>G c.(259-261)caA>caG p.Q87Q MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Silent_p.Q42Q|MFSD8_ENST00000513559.1_Silent_p.Q42Q NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 87 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 AAGCTACCATTTGGCCAAGAC 0.403000 17 257 0 0 0.043863 0 0 HTR4 3360 broad.mit.edu 37 5 147928401 147928401 + Silent SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr5:147928401A>T ENST00000360693.3 - 4 321 c.183T>A c.(181-183)tcT>tcA p.S61S HTR4_ENST00000521735.1_Silent_p.S61S|HTR4_ENST00000354217.2_Silent_p.S61S|HTR4_ENST00000520514.1_Silent_p.S61S|HTR4_ENST00000362016.2_Silent_p.S61S|HTR4_ENST00000521530.1_Silent_p.S61S|HTR4_ENST00000377888.3_Silent_p.S61S|HTR4_ENST00000517929.1_Silent_p.S61S|HTR4_ENST00000314512.6_Silent_p.S61S NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 61 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) CAAAAGCAAGAGATACAATGA 0.453000 80 5 0 0 0.139131 0 0 TRPC6 7225 broad.mit.edu 37 11 101353775 101353775 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:101353775G>A ENST00000344327.3 - 5 1839 c.1415C>T c.(1414-1416)cCt>cTt p.P472L TRPC6_ENST00000348423.4_Missense_Mutation_p.P356L|TRPC6_ENST00000532133.1_Missense_Mutation_p.P472L|TRPC6_ENST00000360497.4_Missense_Mutation_p.P417L NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 472 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GGTTTCATTAGGAAGGAGTTT 0.428000 54 66 0 0 0.139131 0 0 ZNF543 125919 broad.mit.edu 37 19 57839445 57839445 + Silent SNP G G C rs71972752 TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:57839445G>C ENST00000321545.4 + 4 960 c.615G>C c.(613-615)ggG>ggC p.G205G NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 205 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) AGGAATGCGGGAAAGTGTTTA 0.413000 43 42 0 0 0.117977 0 0 ANKRD17 26057 broad.mit.edu 37 4 74013123 74013123 + Missense_Mutation SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:74013123C>T ENST00000358602.4 - 9 1710 c.1594G>A c.(1594-1596)Gaa>Aaa p.E532K ANKRD17_ENST00000509867.2_Missense_Mutation_p.E419K|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E532K|ANKRD17_ENST00000514252.1_Intron NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 532 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCTTGAGTTTCTTCTGTCTGT 0.368000 4 125 0 0 0.014758 0 0 TLN2 83660 broad.mit.edu 37 15 63031648 63031648 + Silent SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr15:63031648G>T ENST00000561311.1 + 30 4019 c.3789G>T c.(3787-3789)cgG>cgT p.R1263R TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Silent_p.R1263R Q9Y4G6 TLN2_HUMAN talin 2 1263 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 ATGCCACCCGGGGCCAGAGTG 0.557000 39 52 2.68985e-26 3.36231e-26 0.139131 1 0 XPNPEP1 7511 broad.mit.edu 37 10 111630550 111630550 + Silent SNP G G A rs143796899 TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr10:111630550G>A ENST00000502935.1 - 18 1754 c.1635C>T c.(1633-1635)tgC>tgT p.C545C XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000369680.4_Silent_p.C502C Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 502 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity p.C502C(2)|p.C545C(2) endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) AACTGATGCCGCAAGGACCCT 0.498000 5 173 0 0 0.014758 0 0 WDR93 56964 broad.mit.edu 37 15 90276380 90276380 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr15:90276380A>T ENST00000268130.7 + 13 1575 c.1474A>T c.(1474-1476)Aca>Tca p.T492S WDR93_ENST00000560294.1_Missense_Mutation_p.T464S|WDR93_ENST00000444934.2_Missense_Mutation_p.T209S NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 492 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) GGTGCTGTGCACAGACGCCTC 0.502000 64 81 0 0 0.139131 0 0 HLA-G 3135 broad.mit.edu 37 6 29797632 29797632 + Missense_Mutation SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:29797632T>A ENST00000428701.1 + 6 1113 c.935T>A c.(934-936)gTt>gAt p.V312D HLA-G_ENST00000376815.3_Missense_Mutation_p.V128D|HLA-G_ENST00000376828.2_Missense_Mutation_p.V317D|HLA-G_ENST00000360323.6_Missense_Mutation_p.V312D|HLA-G_ENST00000376818.3_Missense_Mutation_p.V220D NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 312 antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 ATGGGTATCGTTGCTGGCCTG 0.587000 19 30 0 0 0.055883 0 0 SV2A 9900 broad.mit.edu 37 1 149877500 149877500 + Silent SNP G G A rs138815521 byFrequency TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:149877500G>A ENST00000369146.3 - 12 2467 c.1977C>T c.(1975-1977)ggC>ggT p.G659G SV2A_ENST00000369145.1_Silent_p.G659G NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 659 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TGCTGACCCCGCCAAAAAGGC 0.557000 7 476 0 0 0.029380 0 0 NEURL4 84461 broad.mit.edu 37 17 7219585 7219585 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr17:7219585G>A ENST00000399464.2 - 29 4561 c.4546C>T c.(4546-4548)Cgc>Tgc p.R1516C RP11-542C16.2_ENST00000575474.1_Intron|NEURL4_ENST00000570460.1_Missense_Mutation_p.R1492C|NEURL4_ENST00000315614.7_Missense_Mutation_p.R1514C NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GAGCCAGGGCGCACACACACC 0.597000 3 19 0 0 0.115264 0 0 SYNE1 23345 broad.mit.edu 37 6 152652224 152652224 + Silent SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:152652224C>T ENST00000367255.5 - 78 14197 c.13596G>A c.(13594-13596)gtG>gtA p.V4532V SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.V4532V|SYNE1_ENST00000423061.1_Silent_p.V4461V|SYNE1_ENST00000448038.1_Silent_p.V4461V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4532 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCTTCCCCAGCACTTCACTCT 0.463000 HNSCC(10;0.0054) 126 145 0 0 0.139131 0 0 PIBF1 10464 broad.mit.edu 37 13 73401179 73401179 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr13:73401179G>A ENST00000326291.6 + 7 1176 c.838G>A c.(838-840)Gag>Aag p.E280K NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 280 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GGAAGTAATTGAGCTTAGGAG 0.338000 67 4 0 0 0.139131 0 0 TTN 7273 broad.mit.edu 37 2 179478980 179478980 + Missense_Mutation SNP T T G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:179478980T>G ENST00000589042.1 - 262 49368 c.49144A>C c.(49144-49146)Aag>Cag p.K16382Q TTN_ENST00000342175.6_Missense_Mutation_p.K7509Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K7442Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K13814Q|TTN_ENST00000591111.1_Missense_Mutation_p.K14741Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K7317Q|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14741 Ig-like 100. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGTGATCTTAGATCCACCA 0.468000 39 48 0 0 0.086207 0 0 UBE2D3 7323 broad.mit.edu 37 4 103730859 103730859 + Splice_Site SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:103730859C>A ENST00000453744.2 - 4 603 c.88_splice c.e4-1 p.M30_splice UBE2D3_ENST00000350435.7_Splice_Site_p.M24_splice|UBE2D3_ENST00000502404.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000505207.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000338145.3_Splice_Site_p.M30_splice|UBE2D3_ENST00000394801.4_Splice_Site_p.M30_splice|UBE2D3_ENST00000394803.5_Splice_Site_p.M30_splice|UBE2D3_ENST00000504211.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000507845.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000321805.7_Splice_Site_p.M30_splice|UBE2D3_ENST00000343106.5_Splice_Site_p.M30_splice|UBE2D3_ENST00000357194.6_Splice_Site_p.M32_splice|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000349311.8_Splice_Site_p.M30_splice|UBE2D3_ENST00000394804.2_Splice_Site_p.M30_splice NM_181891.1 NP_871620.1 P61077 UB2D3_HUMAN ubiquitin-conjugating enzyme E2D 3 30 apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway endosome membrane|plasma membrane ATP binding|protein binding|ubiquitin-protein ligase activity kidney(1)|lung(3)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.13e-08) GCCAATGAAACACTAGAAAAA 0.284000 3 8 0.115264 0.122468 0.115264 1 0 ROBO1 6091 broad.mit.edu 37 3 78649341 78649341 + Silent SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr3:78649341A>G ENST00000436010.2 - 28 5743 c.4746T>C c.(4744-4746)aaT>aaC p.N1582N ROBO1_ENST00000467549.1_Silent_p.N1521N|ROBO1_ENST00000464233.1_Silent_p.N1621N|ROBO1_ENST00000495273.1_Silent_p.N1576N|ROBO1_ENST00000466906.1_5'UTR Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1621 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTCGACCTACATTTGCTTGTT 0.383000 102 7 0 0 0.139131 0 0 UBQLN2 29978 broad.mit.edu 37 X 56591354 56591354 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:56591354A>G ENST00000338222.5 + 1 1329 c.1048A>G c.(1048-1050)Act>Gct p.T350A NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 350 cytoplasm|nucleus|plasma membrane binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 CAGCAATGCTACTGGGAACAC 0.542000 4 8 0 0 0.014758 0 0 TP53 7157 broad.mit.edu 37 17 7579494 7579494 + Nonsense_Mutation SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr17:7579494T>A ENST00000420246.2 - 4 325 c.193A>T c.(193-195)Aga>Tga p.R65* TP53_ENST00000269305.4_Nonsense_Mutation_p.R65*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R65*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R65*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R65*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R65* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 65 Interaction with HRMT1L2. R -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R65*(11)|p.0?(8)|p.R65fs*84(3)|p.G59fs*23(3)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGGCATTCTGGGAGCTTCA 0.617000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 527 15 0 0 0.139131 0 0 DNAH3 55567 broad.mit.edu 37 16 21136530 21136530 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr16:21136530A>G ENST00000261383.3 - 9 1369 c.1370T>C c.(1369-1371)cTt>cCt p.L457P CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.L457P NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 457 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GAGGTCCTCAAGTGACTTAAT 0.453000 44 50 0 0 0.124865 0 0 CLDN14 23562 broad.mit.edu 37 21 37833396 37833396 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr21:37833396C>A ENST00000399137.1 - 3 1464 c.598G>T c.(598-600)Gcc>Tcc p.A200S CLDN14_ENST00000399139.1_Missense_Mutation_p.A200S|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.A200S|CLDN14_ENST00000399135.1_Missense_Mutation_p.A200S|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Missense_Mutation_p.A200S NM_144492.2 NP_652763.1 O95500 CLD14_HUMAN claudin 14 200 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 GTCGTGGTGGCCCTGGGCGGG 0.657000 13 11 4.36969e-10 4.86581e-10 0.105934 1 0 SLC4A10 57282 broad.mit.edu 37 2 162804157 162804157 + Missense_Mutation SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:162804157T>A ENST00000375514.5 + 17 2415 c.2128T>A c.(2128-2130)Tct>Act p.S710T SLC4A10_ENST00000446997.1_Missense_Mutation_p.S729T|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S699T|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S729T|SLC4A10_ENST00000415876.2_Missense_Mutation_p.S699T NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 729 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TCTATTTTGGTCTGTGATCCT 0.438000 15 164 0 0 0.132662 0 0 CPAMD8 27151 broad.mit.edu 37 19 17091488 17091488 + Silent SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:17091488T>C ENST00000443236.1 - 14 1576 c.1545A>G c.(1543-1545)gaA>gaG p.E515E CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 468 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AATAGGCTTCTTCCCCAACCT 0.567000 13 19 0 0 0.105934 0 0 NRK 203447 broad.mit.edu 37 X 105181439 105181439 + Missense_Mutation SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:105181439T>A ENST00000428173.2 + 22 3970 c.3667T>A c.(3667-3669)Ttg>Atg p.L1223M NRK_ENST00000243300.9_Missense_Mutation_p.L1222M Q7Z2Y5 NRK_HUMAN Nik related kinase 1222 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 AGGAGTCAATTTGCTGTTGGG 0.348000 HNSCC(51;0.14) 13 22 0 0 0.105934 0 0 OSR2 116039 broad.mit.edu 37 8 99962908 99962908 + Silent SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:99962908C>T ENST00000297565.4 + 3 1177 c.681C>T c.(679-681)ccC>ccT p.P227P OSR2_ENST00000522510.1_Silent_p.P227P|OSR2_ENST00000523368.1_Silent_p.P227P|OSR2_ENST00000457907.2_Silent_p.P348P|OSR2_ENST00000435298.2_Silent_p.P227P NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 227 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) AAGAAAAACCCTTCAAATGTC 0.333000 4 8 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179417150 179417150 + Silent SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:179417150G>T ENST00000589042.1 - 335 90701 c.90477C>A c.(90475-90477)ccC>ccA p.P30159P TTN_ENST00000342175.6_Silent_p.P21286P|TTN_ENST00000359218.5_Silent_p.P21219P|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.P27591P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.P28518P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P21094P|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28518 Fibronectin type-III 119. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGATGGTTTGGGTTTTCCCT 0.398000 16 17 2.62699e-14 3.04492e-14 0.132662 1 0 C10orf71 118461 broad.mit.edu 37 10 50532047 50532047 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr10:50532047G>A ENST00000374144.3 + 3 1745 c.1457G>A c.(1456-1458)tGt>tAt p.C486Y C10orf71_ENST00000323868.4_Missense_Mutation_p.C486Y Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 486 endometrium(1) 1 CCCAGTGAATGTCAGTCTCGA 0.557000 13 19 0 0 0.119110 0 0 TFAP2B 7021 broad.mit.edu 37 6 50807960 50807960 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:50807960C>A ENST00000263046.4 + 7 1225 c.1059C>A c.(1057-1059)caC>caA p.H353Q TFAP2B_ENST00000393655.3_Missense_Mutation_p.H344Q Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 344 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) ACCGGCAGCACACAGACCCGA 0.517000 75 71 1.13027e-35 1.4705e-35 0.139131 1 0 SVEP1 79987 broad.mit.edu 37 9 113259169 113259169 + Nonsense_Mutation SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:113259169T>A ENST00000401783.2 - 8 2062 c.1726A>T c.(1726-1728)Aag>Tag p.K576* SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.K576*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.K553*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.K553* NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 576 HYR 1. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCCAGAGTCTTAGCCTCTATG 0.413000 8 6 0 0 0.038147 0 0 TARS 6897 broad.mit.edu 37 5 33461819 33461819 + Silent SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr5:33461819C>T ENST00000265112.3 + 14 1910 c.1599C>T c.(1597-1599)aaC>aaT p.N533N TARS_ENST00000541634.1_Silent_p.N429N|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Silent_p.N533N|TARS_ENST00000414361.2_Silent_p.N412N|TARS_ENST00000455217.2_Silent_p.N566N NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 533 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) GGGAGTTAAACTCTGGAGATG 0.353000 73 181 0 0 0.139131 0 0 ZNF275 10838 broad.mit.edu 37 X 152613207 152613207 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:152613207G>T ENST00000421401.3 + 4 1241 c.1064G>T c.(1063-1065)gGc>gTc p.G355V ZNF275_ENST00000370251.2_Intron|ZNF275_ENST00000440091.1_Missense_Mutation_p.G385V|ZNF275_ENST00000370249.2_Missense_Mutation_p.G302V NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 271 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCGAGTGTGGCAAGGCCTTC 0.672000 9 14 1.76689e-08 1.95047e-08 0.058154 1 0 SPTBN4 57731 broad.mit.edu 37 19 41009825 41009825 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:41009825G>T ENST00000352632.3 + 12 1537 c.1451G>T c.(1450-1452)cGg>cTg p.R484L SPTBN4_ENST00000598249.1_Missense_Mutation_p.R484L|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R484L|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R484L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R484L Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 484 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TACGAGGAGCGGGTGCAGGGT 0.642000 9 8 6.31663e-08 6.94284e-08 0.132662 1 0 PLN 5350 broad.mit.edu 37 6 118880214 118880214 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:118880214C>A ENST00000357525.5 + 2 322 c.130C>A c.(130-132)Ctg>Atg p.L44M CEP85L_ENST00000360290.3_Intron|CEP85L_ENST00000419517.2_Intron|CEP85L_ENST00000368491.3_Intron|CEP85L_ENST00000392500.3_Intron|CEP85L_ENST00000368488.5_Intron NM_002667.3 NP_002658.1 P26678 PPLA_HUMAN phospholamban 44 blood circulation|regulation of calcium ion transport integral to membrane|mitochondrial membrane|sarcoplasmic reticulum calcium channel regulator activity|protein binding large_intestine(1)|lung(3) 4 all_cancers(87;0.0916)|all_epithelial(87;0.131) GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176) ATGTCTCTTGCTGATCTGTAT 0.408000 62 124 1.1362e-29 1.45593e-29 0.139131 1 0 OR2D3 120775 broad.mit.edu 37 11 6942268 6942268 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:6942268G>A ENST00000317834.3 + 1 64 c.36G>A c.(34-36)caG>caA p.Q12Q NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGGTAAACAGGCAAAAATAT 0.403000 62 1 0 0 0.139131 0 0 EYA4 2070 broad.mit.edu 37 6 133827278 133827278 + Missense_Mutation SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:133827278T>A ENST00000367895.5 + 14 1690 c.1226T>A c.(1225-1227)aTg>aAg p.M409K EYA4_ENST00000452339.2_Missense_Mutation_p.M355K|EYA4_ENST00000430974.2_Missense_Mutation_p.M361K|RP3-323P13.2_ENST00000451017.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.M409K|EYA4_ENST00000531901.1_Missense_Mutation_p.M415K|EYA4_ENST00000355286.6_Missense_Mutation_p.M386K|EYA4_ENST00000355167.3_Missense_Mutation_p.M409K|EYA4_ENST00000525849.1_Missense_Mutation_p.M386K NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 409 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GGACTCCGCATGGAAGAAATG 0.328000 49 61 0 0 0.139131 0 0 TEX13A 56157 broad.mit.edu 37 X 104463999 104463999 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:104463999G>T ENST00000372578.3 - 3 990 c.879C>A c.(877-879)ttC>ttA p.F293L TEX13A_ENST00000372575.1_Missense_Mutation_p.F293L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.P293T NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 0 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 AGCTGGACAGGAAGAGGTTCT 0.527000 37 42 7.04047e-22 8.59005e-22 0.080422 1 0 DIAPH2 1730 broad.mit.edu 37 X 96212914 96212914 + Missense_Mutation SNP G G C rs149470789 TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:96212914G>C ENST00000324765.8 + 16 2049 c.1702G>C c.(1702-1704)Gcg>Ccg p.A568P DIAPH2_ENST00000373061.3_Missense_Mutation_p.A568P|DIAPH2_ENST00000373054.4_Missense_Mutation_p.A564P|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A568P|DIAPH2_ENST00000355827.4_Missense_Mutation_p.A568P O60879 DIAP2_HUMAN diaphanous-related formin 2 568 FH1.|Poly-Pro. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 ACCACCACCCGCGCCACCTCT 0.557000 6 21 0 0 0.058154 0 0 ATR 545 broad.mit.edu 37 3 142178077 142178077 + Silent SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr3:142178077A>G ENST00000350721.4 - 43 7462 c.7341T>C c.(7339-7341)ccT>ccC p.P2447P ATR_ENST00000383101.3_Silent_p.P2383P NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2447 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 ACCATGATGTAGGATCAGGGA 0.333000 Other conserved DNA damage response genes 3 140 0 0 0.115264 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290864 141290864 + Missense_Mutation SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:141290864T>C ENST00000247452.3 - 3 1257 c.910A>G c.(910-912)Aga>Gga p.R304G NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 304 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GAATGGGCTCTCGGACCCCAC 0.473000 HNSCC(46;0.14) 10 408 0 0 0.080935 0 0 LRRC25 126364 broad.mit.edu 37 19 18507421 18507421 + Missense_Mutation SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:18507421C>T ENST00000339007.3 - 1 1006 c.353G>A c.(352-354)tGt>tAt p.C118Y LRRC25_ENST00000595840.1_Missense_Mutation_p.C118Y NM_145256.2 NP_660299.2 Q8N386 LRC25_HUMAN leucine rich repeat containing 25 118 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|skin(1) 8 CTCCAGGGCACAGTTGCAGTC 0.632000 14 6 0 0 0.105934 0 0 KCNB2 9312 broad.mit.edu 37 8 73849937 73849937 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:73849937G>T ENST00000523207.1 + 3 2935 c.2347G>T c.(2347-2349)Ggg>Tgg p.G783W NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 783 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACCTTCCAAAGGGCTGTCCCC 0.527000 55 67 9.57592e-29 1.20884e-28 0.139131 1 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139412 90139412 + RNA SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:90139412A>G ENST00000492446.1 + 0 210 ATCAGCAGAAACCAGAGAAAG 0.522000 96 99 0 0 0.139131 0 0 PSMD2 5708 broad.mit.edu 37 3 184025155 184025155 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr3:184025155G>A ENST00000310118.4 + 17 2603 c.2045G>A c.(2044-2046)gGg>gAg p.G682E EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.G552E|PSMD2_ENST00000435761.1_Missense_Mutation_p.G523E NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 682 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) CTGAGATATGGGGAGCCTACA 0.463000 71 53 0 0 0.139131 0 0 ABCC2 1244 broad.mit.edu 37 10 101605389 101605389 + Silent SNP G G C rs142713507 TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr10:101605389G>C ENST00000370449.4 + 29 4109 c.3996G>C c.(3994-3996)gtG>gtC p.V1332V NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1332 ABC transporter 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AGATTGGTGTGGTGGGCAGGA 0.448000 OREG0020434 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 29 0 0 0.083992 0 0 FBN3 84467 broad.mit.edu 37 19 8159411 8159411 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:8159411G>T ENST00000600128.1 - 47 6238 c.5824C>A c.(5824-5826)Ccc>Acc p.P1942T FBN3_ENST00000270509.2_Missense_Mutation_p.P1942T|FBN3_ENST00000601739.1_Missense_Mutation_p.P1942T Q75N90 FBN3_HUMAN fibrillin 3 1942 EGF-like 31; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CAAGTGCCGGGTAGGCAGGTT 0.597000 17 23 1.40151e-16 1.67002e-16 0.055883 1 0 MACF1 23499 broad.mit.edu 37 1 39750085 39750085 + Silent SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:39750085A>G ENST00000564288.1 + 11 1893 c.1116A>G c.(1114-1116)ttA>ttG p.L372L MACF1_ENST00000545844.1_Silent_p.L377L|MACF1_ENST00000567887.1_Silent_p.L409L|MACF1_ENST00000372915.3_Silent_p.L377L|MACF1_ENST00000317713.7_Silent_p.L377L|MACF1_ENST00000539005.1_Silent_p.L377L|MACF1_ENST00000361689.2_Silent_p.L377L Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 377 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTGAGGAATTATATAAATTAC 0.333000 52 50 0 0 0.139131 0 0 MRPL13 28998 broad.mit.edu 37 8 121437552 121437552 + Silent SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:121437552T>A ENST00000306185.3 - 4 591 c.300A>T c.(298-300)ccA>ccT p.P100P NM_014078.5 NP_054797.2 Q9BYD1 RM13_HUMAN mitochondrial ribosomal protein L13 100 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 6 Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TTACTGCCACTGGATCCCTCA 0.373000 62 69 0 0 0.139131 0 0 SULT1E1 6783 broad.mit.edu 37 4 70709983 70709983 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:70709983A>G ENST00000226444.3 - 7 780 c.668T>C c.(667-669)aTa>aCa p.I223T NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 223 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 AGTATGATGTATAATCCTGTC 0.393000 77 216 0 0 0.139131 0 0 ATXN2 6311 broad.mit.edu 37 12 111907921 111907921 + Missense_Mutation SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr12:111907921C>T ENST00000377617.3 - 20 3468 c.3307G>A c.(3307-3309)Gcg>Acg p.A1103T ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.A838T|ATXN2_ENST00000535949.1_Missense_Mutation_p.A814T|ATXN2_ENST00000389153.4_Missense_Mutation_p.A840T NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 1103 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CCATACATCGCATGCGTCTGC 0.438000 71 78 0 0 0.139131 0 0 GIT2 9815 broad.mit.edu 37 12 110370790 110370790 + Missense_Mutation SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr12:110370790T>A ENST00000360185.4 - 19 2287 c.2123A>T c.(2122-2124)aAc>aTc p.N708I GIT2_ENST00000338373.5_Missense_Mutation_p.N660I|GIT2_ENST00000551209.1_Missense_Mutation_p.N707I|GIT2_ENST00000343646.5_Missense_Mutation_p.N648I|GIT2_ENST00000553118.1_Missense_Mutation_p.N630I|GIT2_ENST00000457474.2_Missense_Mutation_p.N680I|GIT2_ENST00000361006.5_Missense_Mutation_p.N728I|GIT2_ENST00000356259.4_Missense_Mutation_p.N645I|GIT2_ENST00000354574.4_Missense_Mutation_p.N680I|GIT2_ENST00000355312.3_Missense_Mutation_p.N758I Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 758 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 TTGTCAGTTGTTGTTCTCTTT 0.493000 29 46 0 0 0.059317 0 0 KIAA0020 9933 broad.mit.edu 37 9 2837296 2837296 + Missense_Mutation SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:2837296T>C ENST00000397885.2 - 3 394 c.188A>G c.(187-189)aAg>aGg p.K63R NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 63 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTTTACACCCTTTTTCCCAAG 0.388000 6 539 0 0 0.021553 0 0 PTPRO 5800 broad.mit.edu 37 12 15731818 15731818 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr12:15731818A>T ENST00000281171.4 + 20 3191 c.2861A>T c.(2860-2862)cAc>cTc p.H954L PTPRO_ENST00000348962.2_Missense_Mutation_p.H926L|PTPRO_ENST00000542557.1_Missense_Mutation_p.H115L|PTPRO_ENST00000544244.1_Missense_Mutation_p.H115L|PTPRO_ENST00000442921.2_Missense_Mutation_p.H143L|PTPRO_ENST00000445537.2_Missense_Mutation_p.H143L NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 954 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GATATCCCACACTTTGCTGCA 0.398000 34 48 0 0 0.069456 0 0 TTLL13 440307 broad.mit.edu 37 15 90799470 90799470 + Silent SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr15:90799470C>A ENST00000438251.1 + 6 936 c.646C>A c.(646-648)Cga>Aga p.R216R TTLL13_ENST00000339615.5_Silent_p.R216R|RP11-697E2.6_ENST00000561573.1_Intron A6NNM8 TTL13_HUMAN tubulin tyrosine ligase-like family, member 13 216 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) CTTCATTACCCGAAATCCCCG 0.542000 29 31 7.26314e-15 8.57454e-15 0.125774 1 0 ZNF324B 388569 broad.mit.edu 37 19 58967159 58967159 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:58967159G>T ENST00000391696.1 + 3 1750 c.818G>T c.(817-819)cGg>cTg p.R273L ZNF324B_ENST00000545523.1_Missense_Mutation_p.R283L|ZNF324B_ENST00000336614.4_Missense_Mutation_p.R283L Q6AW86 Z324B_HUMAN zinc finger protein 324B 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) ACCGGGGAGCGGCCCTACGAG 0.652000 14 17 8.00594e-06 8.72442e-06 0.043863 1 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 3 21 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179616022 179616022 + Nonsense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:179616022A>T ENST00000360870.5 - 46 11327 c.11105T>A c.(11104-11106)tTg>tAg p.L3702* TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9548 Ig-like 22. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAAACGTTGCAACTTCACTTT 0.338000 79 95 0 0 0.139131 0 0 FAM124B 79843 broad.mit.edu 37 2 225266227 225266227 + Missense_Mutation SNP C C G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:225266227C>G ENST00000389874.3 - 1 484 c.259G>C c.(259-261)Gac>Cac p.D87H FAM124B_ENST00000409685.3_Missense_Mutation_p.D87H|FAM124B_ENST00000243806.2_Missense_Mutation_p.D87H NM_024785.2 NP_079061.2 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B 87 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) TGGAGAGAGTCCAGGACGCGA 0.567000 11 26 0 0 0.080935 0 0 GAD2 2572 broad.mit.edu 37 10 26589865 26589865 + Missense_Mutation SNP T T C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr10:26589865T>C ENST00000376261.3 + 16 2236 c.1733T>C c.(1732-1734)aTa>aCa p.I578T GAD2_ENST00000259271.3_Missense_Mutation_p.I578T NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 578 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) ATTGAAGAAATAGAACGCCTT 0.428000 96 147 0 0 0.139131 0 0 EYA1 2138 broad.mit.edu 37 8 72127853 72127853 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:72127853A>G ENST00000340726.3 - 15 2110 c.1471T>C c.(1471-1473)Tcc>Ccc p.S491P EYA1_ENST00000388740.3_Missense_Mutation_p.S458P|EYA1_ENST00000388743.2_Missense_Mutation_p.S490P|EYA1_ENST00000388741.2_Missense_Mutation_p.S457P|EYA1_ENST00000419131.1_Missense_Mutation_p.S456P|EYA1_ENST00000303824.7_Missense_Mutation_p.S485P|EYA1_ENST00000388742.4_Missense_Mutation_p.S491P NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 491 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CCTCACCGGGAGTGAATGAGC 0.507000 3 138 0 0 0.009096 0 0 MKRN3 7681 broad.mit.edu 37 15 23811246 23811246 + Missense_Mutation SNP A A T rs143897856 byFrequency TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr15:23811246A>T ENST00000314520.3 + 1 793 c.317A>T c.(316-318)cAt>cTt p.H106L MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 106 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TATTATATACATGGGCAGTGC 0.602000 29 25 0 0 0.050027 0 0 CYLC1 1538 broad.mit.edu 37 X 83128938 83128938 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:83128938G>T ENST00000329312.4 + 4 1259 c.1222G>T c.(1222-1224)Gat>Tat p.D408Y NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 408 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 ATTCTCTACTGATTCTGAATC 0.318000 32 43 1.99505e-19 2.39971e-19 0.050027 1 0 EPHA5 2044 broad.mit.edu 37 4 66218787 66218787 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:66218787C>A ENST00000273854.3 - 13 2871 c.2271G>T c.(2269-2271)gaG>gaT p.E757D EPHA5_ENST00000354839.4_Missense_Mutation_p.E735D|EPHA5_ENST00000432638.2_Missense_Mutation_p.E594D|EPHA5_ENST00000511294.1_Missense_Mutation_p.E758D NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 757 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 AAGAGCCATTCTCCATATACT 0.358000 TSP Lung(17;0.13) 30 57 2.09667e-21 2.54595e-21 0.064281 1 0 C15orf26 161502 broad.mit.edu 37 15 81429058 81429058 + Missense_Mutation SNP C C G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr15:81429058C>G ENST00000286732.4 + 3 444 c.361C>G c.(361-363)Cca>Gca p.P121A NM_173528.2 NP_775799.2 Q6P656 CO026_HUMAN chromosome 15 open reading frame 26 121 endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1) 17 AGCCAAGACCCCAATTGGCAG 0.408000 31 33 0 0 0.104719 0 0 OR4P4 81300 broad.mit.edu 37 11 55406549 55406549 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:55406549G>A ENST00000314612.2 + 1 716 c.716G>A c.(715-717)aGt>aAt p.S239N NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 GCCACTTGTAGTTCTCATGTA 0.383000 103 119 0 0 0.139131 0 0 CRIM1 51232 broad.mit.edu 37 2 36771536 36771536 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:36771536C>A ENST00000280527.2 + 15 3008 c.2641C>A c.(2641-2643)Cca>Aca p.P881T AC007401.2_ENST00000406220.1_Intron NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 881 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) TGTCCCAGAACCAACCAATAT 0.443000 83 116 1.01459e-35 1.32678e-35 0.139131 1 0 SLC6A5 9152 broad.mit.edu 37 11 20628684 20628684 + Splice_Site SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:20628684G>C ENST00000525748.1 + 4 1084 c.811_splice c.e4+1 p.G271_splice NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 271 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AGCTCTACAAGGTGAGTCCAG 0.597000 7 1 0 0 0.038147 0 0 CCM2 83605 broad.mit.edu 37 7 45077868 45077868 + Missense_Mutation SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr7:45077868C>T ENST00000475551.1 + 2 789 c.29C>T c.(28-30)cCa>cTa p.P10L CCM2_ENST00000258781.6_Missense_Mutation_p.P16L|CCM2_ENST00000544363.1_Missense_Mutation_p.P16L|CCM2_ENST00000541586.1_Intron|CCM2_ENST00000474617.1_Missense_Mutation_p.P10L|CCM2_ENST00000381112.3_Missense_Mutation_p.P37L|CCM2_ENST00000461377.1_3'UTR Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 16 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 ATTGTCTCGCCATTTAAACGA 0.433000 47 69 0 0 0.139131 0 0 SRD5A3 79644 broad.mit.edu 37 4 56212692 56212692 + Silent SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:56212692C>T ENST00000264228.4 + 1 417 c.189C>T c.(187-189)ccC>ccT p.P63P NM_024592.4 NP_078868.1 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 63 androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) CGTCGCGCCCCGCCGCCTGCC 0.711000 2 1 0 0 0.115264 0 0 TMEM44 93109 broad.mit.edu 37 3 194346652 194346652 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr3:194346652C>A ENST00000392432.2 - 3 537 c.332G>T c.(331-333)tGt>tTt p.C111F TMEM44_ENST00000273580.7_Missense_Mutation_p.C111F|TMEM44_ENST00000330115.3_Missense_Mutation_p.C8F|TMEM44_ENST00000473092.1_Missense_Mutation_p.C111F|TMEM44_ENST00000381975.3_Missense_Mutation_p.C111F|TMEM44_ENST00000347147.4_Missense_Mutation_p.C111F NM_001166305.1 NP_001159777.1 Q2T9K0 TMM44_HUMAN transmembrane protein 44 111 integral to membrane breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1) 8 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) TTTGGATCCACAGACTGGGAA 0.448000 3 66 0.115264 0.122468 0.115264 1 0 ZNF513 130557 broad.mit.edu 37 2 27600739 27600739 + Silent SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:27600739A>G ENST00000323703.6 - 4 1497 c.1299T>C c.(1297-1299)cgT>cgC p.R433R ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Silent_p.R371R NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 433 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCGACCATGACGCTTGAGGT 0.547000 3 113 0 0 0.009096 0 0 OR2T33 391195 broad.mit.edu 37 1 248436163 248436163 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:248436163C>A ENST00000318021.2 - 1 975 c.954G>T c.(952-954)agG>agT p.R318S NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R318S(1) NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATCATCTTGACCTGTGGGCCT 0.403000 167 153 1.92156e-89 2.72222e-89 0.139131 1 0 MCM9 254394 broad.mit.edu 37 6 119245037 119245037 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:119245037G>A ENST00000316316.6 - 3 846 c.560C>T c.(559-561)tCa>tTa p.S187L MCM9_ENST00000316068.3_Missense_Mutation_p.S187L NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 187 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity p.S187*(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) AGACAAGCCTGAGAGGCAAGT 0.418000 29 27 0 0 0.045705 0 0 COL5A1 1289 broad.mit.edu 37 9 137708877 137708877 + Silent SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:137708877C>T ENST00000371817.3 + 53 4542 c.4128C>T c.(4126-4128)tcC>tcT p.S1376S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1376 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ACCAGGGATCCCCCGGCCCTA 0.512000 16 16 0 0 0.033300 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117960045 117960045 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:117960045G>A ENST00000310164.2 + 4 1345 c.838G>A c.(838-840)Gtg>Atg p.V280M NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 TGTGATCCTGGTGGAGTCTCA 0.567000 50 68 0 0 0.139131 0 0 MUC16 94025 broad.mit.edu 37 19 9007836 9007836 + Missense_Mutation SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:9007836G>T ENST00000397910.4 - 42 39591 c.39388C>A c.(39388-39390)Cat>Aat p.H13130N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13132 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGCTCCGATGGGTGAAACCT 0.522000 72 112 6.09464e-36 8.01099e-36 0.139131 1 0 BRDT 676 broad.mit.edu 37 1 92459700 92459700 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:92459700C>A ENST00000370389.2 + 15 2881 c.1957C>A c.(1957-1959)Cct>Act p.P653T BRDT_ENST00000394530.3_Missense_Mutation_p.P680T|BRDT_ENST00000399546.2_Missense_Mutation_p.P726T|BRDT_ENST00000402388.1_Missense_Mutation_p.P726T|BRDT_ENST00000362005.3_Missense_Mutation_p.P726T NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 726 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TCAGACCACACCTTCACATGT 0.338000 93 121 1.44786e-46 1.94318e-46 0.139131 1 0 DDR2 4921 broad.mit.edu 37 1 162741929 162741929 + Silent SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:162741929G>T ENST00000367922.2 + 14 2058 c.1620G>T c.(1618-1620)gtG>gtT p.V540V DDR2_ENST00000367921.3_Silent_p.V540V NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 540 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CATACTCAGTGCCTGCCGTCA 0.557000 32 94 6.04917e-29 7.67433e-29 0.092188 1 0 GORASP2 26003 broad.mit.edu 37 2 171822507 171822507 + Missense_Mutation SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:171822507C>T ENST00000234160.4 + 10 2041 c.1226C>T c.(1225-1227)tCa>tTa p.S409L GORASP2_ENST00000452526.2_Missense_Mutation_p.S421L NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 409 Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 GCTGCCTCCTCACTCACTGTG 0.637000 7 15 0 0 0.058154 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869823 151869823 + Silent SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:151869823C>T ENST00000329342.5 + 3 738 c.513C>T c.(511-513)ccC>ccT p.P171P NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 171 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) AAGTGGACCCCATCGGCCACG 0.532000 43 52 0 0 0.124865 0 0 EIF4EBP3 8637 broad.mit.edu 37 5 139928512 139928512 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr5:139928512G>A ENST00000310331.2 + 2 197 c.125G>A c.(124-126)cGa>cAa p.R42Q ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P2567P|ANKHD1_ENST00000297183.6_Silent_p.P2567P NM_003732.2 NP_003723.1 O60516 4EBP3_HUMAN eukaryotic translation initiation factor 4E binding protein 3 42 negative regulation of translational initiation eukaryotic translation initiation factor 4F complex eukaryotic initiation factor 4E binding|translation repressor activity endometrium(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCTACGACCGAAAGTTCCTG 0.597000 3 52 0 0 0.009096 0 0 PCDH9 5101 broad.mit.edu 37 13 67802394 67802394 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr13:67802394G>A ENST00000544246.1 - 2 870 c.179C>T c.(178-180)gCc>gTc p.A60V PCDH9_ENST00000456367.1_Missense_Mutation_p.A60V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A60V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A60V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A60V NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 60 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GACAAGGCTGGCGCTGGTCCC 0.458000 18 0 0 0 0.074837 0 0 CTDP1 9150 broad.mit.edu 37 18 77473137 77473137 + Splice_Site SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr18:77473137A>T ENST00000299543.7 + 7 1176 c.1030_splice c.e7+1 p.K343_splice CTDP1_ENST00000075430.7_Splice_Site_p.K343_splice NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 343 FCP1 homology. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CGAGAAAGAAAGGTGGGTAAC 0.418000 17 16 0 0 0.038395 0 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1101_splice c.e13-1 p.L368_splice POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 6 22 0 0 0.038147 0 0 TSPAN12 23554 broad.mit.edu 37 7 120428836 120428836 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr7:120428836G>A ENST00000222747.3 - 8 1335 c.728C>T c.(727-729)aCt>aTt p.T243I TSPAN12_ENST00000415871.1_Missense_Mutation_p.T243I NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 243 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) CCAGAGCAGAGTAATGGTGAG 0.473000 147 150 0 0 0.139131 0 0 PCDH8 5100 broad.mit.edu 37 13 53418775 53418775 + Nonsense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr13:53418775G>A ENST00000377942.3 - 3 3336 c.3133C>T c.(3133-3135)Cag>Tag p.Q1045* PCDH8_ENST00000338862.4_Nonsense_Mutation_p.Q948* NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 1045 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CCAATCTCCTGCAGGTCTGGG 0.562000 23 0 0 0 0.076483 0 0 GRB7 2886 broad.mit.edu 37 17 37900365 37900365 + Missense_Mutation SNP C C G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr17:37900365C>G ENST00000309156.4 + 7 963 c.706C>G c.(706-708)Ctg>Gtg p.L236V GRB7_ENST00000445327.2_Missense_Mutation_p.L259V|GRB7_ENST00000309185.3_Missense_Mutation_p.L236V|GRB7_ENST00000394209.2_Missense_Mutation_p.L236V|GRB7_ENST00000394211.3_Missense_Mutation_p.L236V|GRB7_ENST00000394204.1_Missense_Mutation_p.L236V NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 236 PH. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CCAGGGCTTTCTGCAGCTGCG 0.552000 62 1 0 0 0.139131 0 0 JMJD1C 221037 broad.mit.edu 37 10 64952803 64952803 + Missense_Mutation SNP C C T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr10:64952803C>T ENST00000399262.2 - 16 6189 c.5971G>A c.(5971-5973)Gag>Aag p.E1991K JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1809K|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1754K|JMJD1C_ENST00000399251.1_3'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1991 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ACATCACTCTCTGGGCTGCTG 0.448000 98 95 0 0 0.139131 0 0 DLG2 1740 broad.mit.edu 37 11 83691638 83691638 + Nonsense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:83691638C>A ENST00000398309.2 - 7 1122 c.652G>T c.(652-654)Gga>Tga p.G218* DLG2_ENST00000398301.2_Nonsense_Mutation_p.G257*|DLG2_ENST00000532653.1_Nonsense_Mutation_p.G218*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.G257*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.G323*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.G167*|DLG2_ENST00000531015.1_Nonsense_Mutation_p.G185*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.G218*|DLG2_ENST00000330014.6_Nonsense_Mutation_p.G157*|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000543673.1_Nonsense_Mutation_p.G323*|DLG2_ENST00000537455.1_5'UTR NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 218 PDZ 2. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CTGTTGTCTCCAGGAATGTGT 0.398000 118 120 2.52425e-37 3.35252e-37 0.139131 1 0 DOCK11 139818 broad.mit.edu 37 X 117722182 117722182 + Silent SNP T T A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chrX:117722182T>A ENST00000276204.6 + 17 1952 c.1878T>A c.(1876-1878)gtT>gtA p.V626V DOCK11_ENST00000498252.1_3'UTR|DOCK11_ENST00000276202.7_Silent_p.V626V Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 626 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AAGAGTTTGTTCCAGAAATGA 0.323000 120 135 0 0 0.139131 0 0 KIAA1109 84162 broad.mit.edu 37 4 123200955 123200955 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:123200955A>G ENST00000264501.4 + 51 8990 c.8617A>G c.(8617-8619)Aag>Gag p.K2873E KIAA1109_ENST00000455637.1_Missense_Mutation_p.K2873E|KIAA1109_ENST00000388738.3_Missense_Mutation_p.K2873E Q2LD37 K1109_HUMAN KIAA1109 2873 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TAGTATTGCCAAGTCCCAAGC 0.398000 50 48 0 0 0.139131 0 0 TTN 7273 broad.mit.edu 37 2 179444862 179444862 + Missense_Mutation SNP G G C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr2:179444862G>C ENST00000589042.1 - 318 67376 c.67152C>G c.(67150-67152)agC>agG p.S22384R RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S13511R|TTN_ENST00000359218.5_Missense_Mutation_p.S13444R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S19816R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S20743R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S13319R|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20743 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTATGATGGGGCTTCCGCCAT 0.448000 56 55 0 0 0.139131 0 0 DCC 1630 broad.mit.edu 37 18 50734081 50734081 + Silent SNP G G T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr18:50734081G>T ENST00000442544.2 + 11 2371 c.1755G>T c.(1753-1755)ctG>ctT p.L585L DCC_ENST00000412726.1_Silent_p.L433L|DCC_ENST00000581580.1_Silent_p.L240L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 585 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTTATAAACTGGAAGGCCTGA 0.373000 121 134 1.14919e-56 1.58402e-56 0.139131 1 0 ZNF644 84146 broad.mit.edu 37 1 91405243 91405243 + Missense_Mutation SNP C C G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:91405243C>G ENST00000370440.1 - 3 1885 c.1668G>C c.(1666-1668)atG>atC p.M556I ZNF644_ENST00000337393.5_Missense_Mutation_p.M556I|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 556 M -> V (in dbSNP:rs17131242). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CAGAAGTGACCATAGGGCATT 0.408000 66 75 0 0 0.139131 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54902294 54902294 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr12:54902294A>G ENST00000293373.6 + 5 564 c.485A>G c.(484-486)cAt>cGt p.H162R NCKAP1L_ENST00000545638.2_Missense_Mutation_p.H112R NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 162 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AATTGTGCCCATGAGATGCTG 0.443000 178 181 0 0 0.139131 0 0 ZNF85 7639 broad.mit.edu 37 19 21132503 21132503 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:21132503G>A ENST00000601023.1 + 2 1652 c.1006G>A c.(1006-1008)Gag>Aag p.E336K ZNF85_ENST00000328178.8_Missense_Mutation_p.E395K|ZNF85_ENST00000345030.6_Missense_Mutation_p.E362K Q03923 ZNF85_HUMAN zinc finger protein 85 395 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 TCATACTGGAGAGAAACCTTA 0.333000 13 13 0 0 0.093190 0 0 RIMS3 9783 broad.mit.edu 37 1 41101697 41101697 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:41101697G>A ENST00000372684.3 - 4 719 c.250C>T c.(250-252)Cgc>Tgc p.R84C RIMS3_ENST00000372683.1_Missense_Mutation_p.R84C NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 84 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) GTGCTCCGGCGGATGTTGCTG 0.622000 35 38 0 0 0.069456 0 0 CCDC60 160777 broad.mit.edu 37 12 119909874 119909874 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr12:119909874G>A ENST00000327554.2 + 3 711 c.246G>A c.(244-246)aaG>aaA p.K82K CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 82 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AGAAAAAGAAGCAACAACAAC 0.433000 114 85 0 0 0.139131 0 0 ALPK2 115701 broad.mit.edu 37 18 56203480 56203480 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr18:56203480G>A ENST00000361673.3 - 5 4152 c.3939C>T c.(3937-3939)agC>agT p.S1313S RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1313 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CGCCTTTATGGCTTTCTCTGC 0.537000 47 98 0 0 0.139131 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107069328 107069328 + Missense_Mutation SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:107069328G>A ENST00000539449.1 - 3 943 c.467C>T c.(466-468)tCa>tTa p.S156L RTN4IP1_ENST00000369063.3_Missense_Mutation_p.S156L Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 156 mitochondrion oxidoreductase activity|zinc ion binding breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) AACAAACTCTGAAAGAGTGCC 0.403000 35 41 0 0 0.124865 0 0 PTPRC 5788 broad.mit.edu 37 1 198717268 198717268 + Missense_Mutation SNP C C A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:198717268C>A ENST00000367376.2 + 27 3043 c.2872C>A c.(2872-2874)Cag>Aag p.Q958K PTPRC_ENST00000442510.2_Missense_Mutation_p.Q960K|PTPRC_ENST00000594404.1_Missense_Mutation_p.Q797K|PTPRC_ENST00000352140.3_Missense_Mutation_p.Q910K|PTPRC_ENST00000348564.6_Missense_Mutation_p.Q799K NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 958 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CTGGAGGACACAGCACATTGG 0.284000 56 45 7.71302e-15 9.06368e-15 0.139131 1 0 GYPE 2996 broad.mit.edu 37 4 144797951 144797951 + Missense_Mutation SNP A A G TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:144797951A>G ENST00000358615.4 - 3 245 c.194T>C c.(193-195)gTt>gCt p.V65A GYPE_ENST00000437468.2_Missense_Mutation_p.V65A NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) 65 integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) TCCAACAACAACAAGCATCAC 0.363000 24 2 0 0 0.083992 0 0 FBXO15 201456 broad.mit.edu 37 18 71740732 71740732 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr18:71740732G>A ENST00000269500.5 - 10 1604 c.1269C>T c.(1267-1269)atC>atT p.I423I FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Silent_p.I499I NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 423 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TGATTTTTGCGATACTAAGAT 0.408000 615 616 0 0 0.139131 0 0 EDN1 1906 broad.mit.edu 37 6 12296272 12296272 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:12296272A>T ENST00000379375.5 + 5 878 c.611A>T c.(610-612)tAt>tTt p.Y204F NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 204 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) AGAGAGCGTTATGTGACCCAC 0.527000 100 168 0 0 0.139131 0 0 FMO1 2326 broad.mit.edu 37 1 171254526 171254526 + Frame_Shift_Del DEL G G - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:171254526delG ENST00000354841.4 + 8 1573 c.1442delG c.(1441-1443)tgfs p.W481fs FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Frame_Shift_Del_p.W481fs|FMO1_ENST00000402921.2_Frame_Shift_Del_p.W418fs Q01740 FMO1_HUMAN flavin containing monooxygenase 1 481 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCAGGAAAATGGGAAGGAGCC 0.498 55 135 --- --- --- --- FASLG 356 broad.mit.edu 37 1 172628388 172628388 + Frame_Shift_Del DEL A A - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:172628388delA ENST00000367721.2 + 1 231 c.47delA c.(46-48)gcfs p.D16fs FASLG_ENST00000340030.3_Frame_Shift_Del_p.D16fs NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 16 Pro-rich. activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 TACTGGGTGGACAGCAGTGCC 0.597 19 103 --- --- --- --- NFASC 23114 broad.mit.edu 37 1 204970335 204970336 + Frame_Shift_Del DEL CC CC - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:204970335_204970336delCC ENST00000367172.4 + 28 3706_3707 c.3378_3379delCC c.(3376-3381)ctccfs p.LP1126fs NFASC_ENST00000495396.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000367171.4_Frame_Shift_Del_p.LP1111fs|NFASC_ENST00000367170.4_Frame_Shift_Del_p.LP1047fs|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000401399.1_Frame_Shift_Del_p.LP1019fs|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000339876.6_Frame_Shift_Del_p.LP1019fs|NFASC_ENST00000404076.1_Intron O94856 NFASC_HUMAN neurofascin 1126 Fibronectin type-III 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCACGGTGCTCCCCAACAGTAA 0.540 2 4 --- --- --- --- MFSD4 148808 broad.mit.edu 37 1 205568346 205568346 + Frame_Shift_Del DEL T T - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr1:205568346delT ENST00000367147.4 + 9 1549 c.1456delT c.(1456-1458)ttfs p.F487fs MFSD4_ENST00000536357.1_Frame_Shift_Del_p.F400fs|MFSD4_ENST00000478555.1_3'UTR|MFSD4_ENST00000539267.1_3'UTR NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 487 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CTTGCTCCTGTTTTTCCACAG 0.517 167 101 --- --- --- --- SIDT1 54847 broad.mit.edu 37 3 113326986 113326991 + In_Frame_Del DEL CTTCCT CTTCCT - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr3:113326986_113326991delCTTCCT ENST00000264852.4 + 16 2250_2255 c.1524_1529delCTTCCT c.(1522-1530)ggc>gg p.GFL508del SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_In_Frame_Del_p.GFL508del NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 508 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 TGCTTCTGGGCTTCCTCTTCCTGCTG 0.544 88 341 --- --- --- --- SIDT1 54847 broad.mit.edu 37 3 113327317 113327318 + In_Frame_Ins INS - - TGA TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr3:113327317_113327318insTGA ENST00000264852.4 + 17 2380_2381 c.1654_1655insTGA c.(1654-1656)gat>TGAgat p.551_552ins* SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_In_Frame_Ins_p.551_552ins* NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 551 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 GGGCATTGCATTGATGATGGAA 0.411 114 363 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 2 4 --- --- --- --- DSE 29940 broad.mit.edu 37 6 116756950 116756950 + Frame_Shift_Del DEL T T - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr6:116756950delT ENST00000331677.3 + 7 1763 c.1319delT c.(1318-1320)acfs p.I440fs DSE_ENST00000359564.2_Frame_Shift_Del_p.I440fs|DSE_ENST00000452085.3_Frame_Shift_Del_p.I440fs|DSE_ENST00000537543.1_Frame_Shift_Del_p.I459fs Q9UL01 DSE_HUMAN dermatan sulfate epimerase 440 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) AAAGATTGGATCAAAGGATGG 0.403 33 29 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100371476 100371477 + RNA INS - - G rs148800656 by1000genomes TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr7:100371476_100371477insG ENST00000542585.1 + 0 5914 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.?(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCTGCTCCGTTTCGGGCCTCAG 0.624 4 2 --- --- --- --- DOCK5 80005 broad.mit.edu 37 8 25265569 25265571 + In_Frame_Del DEL GAG GAG - rs150764947 TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr8:25265569_25265571delGAG ENST00000276440.7 + 49 5208_5210 c.5164_5166delGAG c.(5164-5166)del p.E1723del NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1723 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GTCCCTTAGAGAGGAGAACAGCG 0.507 8 14 --- --- --- --- ZNF658 26149 broad.mit.edu 37 9 40774257 40774257 + Frame_Shift_Del DEL G G - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:40774257delG ENST00000602553.1 - 5 1312 c.1018delC c.(1018-1020)atfs p.H340fs ZNF658_ENST00000441795.1_Frame_Shift_Del_p.H338fs|ZNF658_ENST00000377626.3_Frame_Shift_Del_p.H340fs Q5TYW1 ZN658_HUMAN zinc finger protein 658 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGTACTATATGGGCTGAGCTC 0.393 52 78 --- --- --- --- PGM5P2 595135 broad.mit.edu 37 9 69128418 69128419 + RNA INS - - A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:69128418_69128419insA ENST00000591037.1 - 0 430 NR_002836.2 aggaaggaaggaaggaaggaag 0.450 5 3 --- --- --- --- RAB14 51552 broad.mit.edu 37 9 123945668 123945671 + Frame_Shift_Del DEL AATT AATT - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr9:123945668_123945671delAATT ENST00000373840.4 - 6 594_597 c.357_360delAATT c.(355-360)atfs p.II119fs NM_016322.3 NP_057406.2 P61106 RAB14_HUMAN RAB14, member RAS oncogene family 119 embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle GDP binding|GTP binding|GTPase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 TTCCTATGAGAATTATTACCTAAT 0.314 110 172 --- --- --- --- AKR1C7P 648947 broad.mit.edu 37 10 5317195 5317195 + RNA DEL A A - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr10:5317195delA ENST00000432689.2 - 0 571 ACTCAAAGTCAAAAACCTGAA 0.453 2 4 --- --- --- --- IRF7 3665 broad.mit.edu 37 11 613353 613354 + Frame_Shift_Ins INS - - C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:613353_613354insC ENST00000397566.1 - 7 1537_1538 c.1128_1129insG c.(1126-1131)ggcacafs p.T377fs IRF7_ENST00000397574.2_Frame_Shift_Ins_p.T364fs|IRF7_ENST00000397562.3_Frame_Shift_Ins_p.T71fs|IRF7_ENST00000330243.5_Frame_Shift_Ins_p.T377fs|IRF7_ENST00000525445.1_Frame_Shift_Ins_p.T258fs|IRF7_ENST00000348655.6_Frame_Shift_Ins_p.T335fs|IRF7_ENST00000397570.1_Frame_Shift_Ins_p.T335fs NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 364 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CACAGCTGTGGCCCCCGAAGCT 0.713 2 4 --- --- --- --- SLCO2B1 11309 broad.mit.edu 37 11 74899193 74899193 + Frame_Shift_Del DEL C C - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr11:74899193delC ENST00000289575.5 + 8 1380 c.985delC c.(985-987)ccfs p.P329fs SLCO2B1_ENST00000532236.1_Frame_Shift_Del_p.P213fs|SLCO2B1_ENST00000531756.1_Frame_Shift_Del_p.P74fs|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000454962.2_Frame_Shift_Del_p.P102fs|SLCO2B1_ENST00000428359.2_Frame_Shift_Del_p.P307fs|SLCO2B1_ENST00000341411.4_Frame_Shift_Del_p.P102fs|SLCO2B1_ENST00000525650.1_Frame_Shift_Del_p.P185fs NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 329 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity p.P329T(2) breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CAAGGACTCTCCCTCTAAGCA 0.557 23 29 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48919228 48919229 + Frame_Shift_Ins INS - - T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr13:48919228_48919229insT ENST00000267163.4 + 4 531_532 c.393_394insT c.(391-396)ttttaafs p.*132fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 132 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCCATAAATTCTTTAACTTACT 0.272 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 14 1 --- --- --- --- LTBP2 4053 broad.mit.edu 37 14 74972756 74972757 + Frame_Shift_Ins INS - - C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr14:74972756_74972757insC ENST00000261978.4 - 28 4557_4558 c.4171_4172insG c.(4171-4173)tggfs p.W1391fs LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.W1347fs NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1391 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CTCACCTCCAGCCCCCCGTGGG 0.634 7 138 --- --- --- --- SEL1L 6400 broad.mit.edu 37 14 81993163 81993164 + Frame_Shift_Ins INS - - C TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr14:81993163_81993164insC ENST00000336735.4 - 3 369_370 c.253_254insG c.(253-255)aagfs p.K85fs SEL1L_ENST00000555824.1_Frame_Shift_Ins_p.K85fs NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 85 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding p.E85K(1) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) TGTGACACTTTCCCCCTCTTGG 0.416 9 1321 --- --- --- --- RPL21P122 100271447 broad.mit.edu 37 17 11914551 11914551 + RNA DEL T T - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr17:11914551delT ENST00000578024.1 - 0 67 TTTTGGTGAATTACTGGAAGA 0.353 2 4 --- --- --- --- RP11-78F17.1 0 broad.mit.edu 37 18 1059761 1059768 + RNA DEL CCTTCCTT CCTTCCTT - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr18:1059761_1059768delCCTTCCTT ENST00000580781.1 + 0 306 tttctttctcccttccttccttccttcc 0.447 5 9 --- --- --- --- NOTCH3 4854 broad.mit.edu 37 19 15297935 15297935 + Frame_Shift_Del DEL G G - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:15297935delG ENST00000263388.2 - 11 1896 c.1821delC c.(1819-1821)cgfs p.R607fs NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 607 EGF-like 15; calcium-binding (Potential). R -> C (in CADASIL). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CAGAAGGGCAGCGGCAGAGGT 0.652 5 4 --- --- --- --- ZNF492 57615 broad.mit.edu 37 19 22836811 22836811 + Frame_Shift_Del DEL C C - TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117 c17486dc-036a-4959-8e82-d64476356d69 g.chr19:22836811delC ENST00000456783.2 + 3 368 c.124delC c.(124-126)ccfs p.P43fs NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) GGTAGCTGAACCCCCAGGTAG 0.413 61 100 --- --- --- ---