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 PHLDA1 22822 broad.mit.edu 37 12 76425092 76425092 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr12:76425092C>G ENST00000266671.5 - 1 2620 c.430G>C c.(430-432)Gag>Cag p.E144Q PHLDA1_ENST00000602540.1_Missense_Mutation_p.E3Q|RP11-290L1.3_ENST00000552367.1_RNA Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 144 apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) CCGCTACTCTCCAGCATCCTC 0.662000 6 9 0 0 1 0 0 URI1 8725 broad.mit.edu 37 19 30433554 30433554 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:30433554C>T ENST00000542441.2 + 1 397 c.100C>T c.(100-102)Cgc>Tgc p.R34C URI1_ENST00000360605.4_Intron|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000312051.6_Silent_p.C5C O94763 RMP_HUMAN URI1, prefoldin-like chaperone 34 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding GGCGCGGCTGCGCGAGGAGCA 0.776000 4 4 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71590290 71590290 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr2:71590290G>C ENST00000409544.1 + 4 2017 c.1387G>C c.(1387-1389)Gat>Cat p.D463H ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.D463H|ZNF638_ENST00000355812.3_Missense_Mutation_p.D463H|ZNF638_ENST00000264447.4_Missense_Mutation_p.D463H NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 463 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TAGGTATCCTGATTGGAATCC 0.269000 13 23 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35749406 35749406 + Silent SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr20:35749406G>C ENST00000400441.3 - 16 2009 c.2010C>G c.(2008-2010)ctC>ctG p.L670L MROH8_ENST00000441008.2_Silent_p.L656L|MROH8_ENST00000217333.8_Silent_p.L499L maestro heat-like repeat family member 8 AGCATGTTCTGAGGAGGAGAG 0.463000 5 13 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235383646 235383646 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:235383646C>G ENST00000264183.3 - 15 1875 c.1378G>C c.(1378-1380)Gaa>Caa p.E460Q ARID4B_ENST00000349213.3_Missense_Mutation_p.E460Q|ARID4B_ENST00000366603.2_Missense_Mutation_p.E460Q NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 460 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TCTTTTCTTTCAATTTCATCC 0.308000 43 26 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768175 31768175 + Missense_Mutation SNP T T A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:31768175T>A ENST00000240587.4 - 2 2851 c.2524A>T c.(2524-2526)Aat>Tat p.N842Y NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 842 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GACAAGGCATTCTCGCGTAGC 0.522000 7 147 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228491578 228491578 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:228491578C>T ENST00000570156.2 + 52 14015 c.13941C>T c.(13939-13941)gaC>gaT p.D4647D OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.D1337D|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3690 Ig-like 47. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGTGGAGGACACTGGAGAGT 0.572000 58 45 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3980668 3980668 + Missense_Mutation SNP T T C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:3980668T>C ENST00000309311.6 - 9 1278 c.1190A>G c.(1189-1191)tAt>tGt p.Y397C NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 397 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) TTTGGAAATATACATCATAAG 0.522000 18 30 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13168365 13168365 + Splice_Site SNP T T G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr9:13168365T>G ENST00000319217.7 - 22 3501 c.3254A>C c.(3253-3255)aAa>aCa p.K1085T MPDZ_ENST00000541718.1_Splice_Site_p.K1085T|MPDZ_ENST00000381015.4_Splice_Site_p.K1085T|MPDZ_ENST00000536827.1_Splice_Site_p.K1085T|MPDZ_ENST00000447879.1_Splice_Site_p.K1085T|MPDZ_ENST00000546205.1_Splice_Site_p.K1085T|MPDZ_ENST00000381022.2_Splice_Site_p.K1085T NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1085 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TGATACTTACTTTATGTCAGG 0.383000 57 79 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228548180 228548180 + Silent SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:228548180C>G ENST00000284548.11 + 81 19661 c.19587C>G c.(19585-19587)ctC>ctG p.L6529L OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Silent_p.L3648L NM_052843.3 NP_443075.3 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7550 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTCTCGGCCTCTTTAGGCCTG 0.701000 3 11 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50774154 50774154 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr15:50774154G>C ENST00000433963.1 + 12 2195 c.1695G>C c.(1693-1695)aaG>aaC p.K565N USP8_ENST00000396444.3_Missense_Mutation_p.K565N|USP8_ENST00000425032.3_Missense_Mutation_p.K488N|USP8_ENST00000307179.4_Missense_Mutation_p.K565N P40818 UBP8_HUMAN ubiquitin specific peptidase 8 565 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CTGATGCCAAGAAATCTGTAG 0.413000 12 14 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150922683 150922683 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr5:150922683G>C ENST00000261800.5 - 9 8017 c.8005C>G c.(8005-8007)Cct>Gct p.P2669A NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2669 Cadherin 23. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCCAGTGAGGAGGGCCTCCA 0.463000 37 50 0 0 1 0 0 TEKT4 150483 broad.mit.edu 37 2 95537391 95537391 + Missense_Mutation SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr2:95537391G>T ENST00000295201.4 + 1 204 c.67G>T c.(67-69)Gcc>Tcc p.A23S AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.A23S NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 23 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 TAACACGGGCGCCTACACGTC 0.667000 9 24 3.86212e-05 3.98281e-05 1 1 0 PLCB2 5330 broad.mit.edu 37 15 40581093 40581093 + Silent SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr15:40581093G>A ENST00000260402.3 - 32 3630 c.3381C>T c.(3379-3381)taC>taT p.Y1127Y PLCB2_ENST00000557821.1_Silent_p.Y1123Y|PLCB2_ENST00000456256.2_Silent_p.Y1112Y NM_001284297.1|NM_004573.2 NP_001271226.1|NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 1127 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCCTGGCCTCGTACTCTGCCA 0.652000 25 25 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518643 108518643 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr13:108518643G>A ENST00000375915.2 - 1 440 c.302C>T c.(301-303)cCc>cTc p.P101L NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 101 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GGGCCAGGAGGgctcctgctg 0.736000 7 11 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99691001 99691001 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr7:99691001C>T ENST00000303887.5 - 14 2517 c.1872G>A c.(1870-1872)gtG>gtA p.V624V MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Silent_p.V448V NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 624 Interaction with ATRIP. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CTTTCTCCACCACATCCACCA 0.532000 24 46 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150741223 150741223 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr7:150741223G>A ENST00000358849.4 + 15 2024 c.1931G>A c.(1930-1932)cGc>cAc p.R644H ABCB8_ENST00000542328.1_Missense_Mutation_p.R556H|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.R661H|ABCB8_ENST00000498578.1_Missense_Mutation_p.R644H NM_001282291.1|NM_001282293.1|NM_007188.3 NP_001269220.1|NP_001269222.1|NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 661 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTGCAGGCCGCACGGTGCTG 0.642000 3 23 0 0 1 0 0 DCUN1D2 55208 broad.mit.edu 37 13 114138283 114138283 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr13:114138283G>A ENST00000478244.1 - 2 374 c.92C>T c.(91-93)aCg>aTg p.T31M DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Missense_Mutation_p.T31M|DCUN1D2_ENST00000460318.1_5'UTR NM_001014283.1 NP_001014305.1 Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain containing 2 31 UBA-like. breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1) 7 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) CTCATTCTGCGTTAAGCAGTA 0.527000 4 148 0 0 1 0 0 TICAM2 353376 broad.mit.edu 37 5 114916672 114916672 + Silent SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr5:114916672G>C ENST00000408996.4 - 4 1175 c.789C>G c.(787-789)ctC>ctG p.L263L TMED7-TICAM2_ENST00000282382.4_Silent_p.L263L|TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000427199.2_Silent_p.L94L NM_001164468.2|NM_001164469.2 NP_001157940.1|NP_001157941.1 toll-like receptor adaptor molecule 2 cervix(1)|kidney(1)|lung(2)|soft_tissue(1) 5 all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05) TCTGGACTCTGAGGGCTTCAT 0.428000 77 111 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463768 25463768 + RNA SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr15:25463768C>T ENST00000424208.1 + 0 2994 SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA NR_003305.1 TGGGTTGGGTCAGTGATGAGA 0.527000 85 146 0 0 1 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313386 1313386 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr6:1313386C>T ENST00000296839.2 + 1 712 c.447C>T c.(445-447)ctC>ctT p.L149L NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 149 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) ACGAGTACCTCATGGGCAAGT 0.657000 21 27 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1459994 1459994 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr2:1459994C>T ENST00000345913.4 + 7 850 c.759C>T c.(757-759)ttC>ttT p.F253F TPO_ENST00000337415.3_Silent_p.F253F|TPO_ENST00000382198.1_Silent_p.F253F|TPO_ENST00000329066.4_Silent_p.F253F|TPO_ENST00000382201.3_Silent_p.F253F|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.F253F|TPO_ENST00000346956.3_Silent_p.F253F NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 253 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AAGCTGCCTTCGGGGGAGGGG 0.473000 24 30 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124746144 124746144 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:124746144G>A ENST00000311127.4 - 3 885 c.818C>T c.(817-819)aCg>aTg p.T273M NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 273 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 CCTAGAAGGCGTGGTCAGCTC 0.537000 4 14 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23523720 23523720 + Silent SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr22:23523720C>G ENST00000305877.8 + 1 1324 c.573C>G c.(571-573)gtC>gtG p.V191V BCR_ENST00000359540.3_Silent_p.V191V|BCR_ENST00000398512.5_Silent_p.V191V NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 191 Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 TGGTGAAGGTCAACGACAAAG 0.667000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 27 29 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 9 43 0 0 1 0 0 CKMT1A 548596 broad.mit.edu 37 15 43991212 43991212 + Silent SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr15:43991212G>A ENST00000413453.2 + 9 1703 c.1179G>A c.(1177-1179)ttG>ttA p.L393L STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Silent_p.L393L P12532 KCRU_HUMAN creatine kinase, mitochondrial 1A 393 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity lung(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) TAAACTATTTGATTGATTGTG 0.483000 61 70 0 0 1 0 0 MARS 4141 broad.mit.edu 37 12 57908749 57908749 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr12:57908749C>T ENST00000262027.5 + 17 2246 c.2112C>T c.(2110-2112)gcC>gcT p.A704A MARS_ENST00000315473.5_Silent_p.A470A NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 704 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TCCGGGATGCCTTGCGCAGTA 0.512000 26 39 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65268310 65268310 + RNA SNP A A G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr11:65268310A>G ENST00000534336.1 + 0 3078 NR_002819.2 ATTTTCTAATATAATGGGGGA 0.413000 16 15 0 0 1 0 0 ANXA7 310 broad.mit.edu 37 10 75139939 75139939 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr10:75139939C>G ENST00000372921.5 - 10 995 c.939G>C c.(937-939)caG>caC p.Q313H ANXA7_ENST00000535178.1_Missense_Mutation_p.Q183H NM_001156.3 NP_001147.1 P20073 ANXA7_HUMAN annexin A7 calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 26 Prostate(51;0.0119) GGTTTATACTCTGGTTCTCAT 0.393000 54 93 0 0 1 0 0 TMC8 147138 broad.mit.edu 37 17 76130591 76130591 + Silent SNP T T G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr17:76130591T>G ENST00000318430.5 + 8 1307 c.933T>G c.(931-933)gtT>gtG p.V311V TMC8_ENST00000589691.1_Silent_p.V88V NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 311 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) TCCTGGTGGTTGGGGCCATCA 0.617000 28 24 0 0 1 0 0 PHLDA1 22822 broad.mit.edu 37 12 76424750 76424750 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr12:76424750C>T ENST00000266671.5 - 1 2962 c.772G>A c.(772-774)Gag>Aag p.E258K PHLDA1_ENST00000602540.1_Missense_Mutation_p.E117K|RP11-290L1.3_ENST00000552367.1_RNA Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 258 PH. apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) TCCTTGCCCTCTGCCATCACC 0.577000 11 18 0 0 1 0 0 GGPS1 9453 broad.mit.edu 37 1 235505737 235505737 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:235505737C>A ENST00000282841.5 + 4 785 c.553C>A c.(553-555)Caa>Aaa p.Q185K GGPS1_ENST00000358966.2_Missense_Mutation_p.Q185K|GGPS1_ENST00000488594.1_Missense_Mutation_p.Q185K|GGPS1_ENST00000476121.1_Missense_Mutation_p.Q185K|GGPS1_ENST00000391855.2_Missense_Mutation_p.Q131K O95749 GGPPS_HUMAN geranylgeranyl diphosphate synthase 1 185 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;1.39e-05) GCTCTTTTTCCAAATTAGGGA 0.358000 4 152 0.150653 0.150653 1 1 0 WNT7A 7476 broad.mit.edu 37 3 13896125 13896125 + Silent SNP G G A rs144400215 TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:13896125G>A ENST00000285018.4 - 3 778 c.474C>T c.(472-474)taC>taT p.Y158Y NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 158 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 AGCCGATGCCGTAGCGGATGT 0.602000 4 118 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73044510 73044510 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr10:73044510C>T ENST00000335350.6 + 3 754 c.338C>T c.(337-339)tCg>tTg p.S113L UNC5B_ENST00000373192.4_Missense_Mutation_p.S113L NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 113 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 ATCGAGGTGTCGCGGCAGCAG 0.667000 33 38 0 0 1 0 0 HPR 3250 broad.mit.edu 37 16 72107863 72107863 + Silent SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr16:72107863C>A ENST00000540303.2 + 2 110 c.78C>A c.(76-78)gtC>gtA p.V26V HPR_ENST00000561690.1_Silent_p.V26V|HPR_ENST00000228226.8_Silent_p.V63V|HPR_ENST00000356967.5_Silent_p.V26V NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 26 proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) GCAATGATGTCACGGATATTT 0.517000 37 85 1.42033e-22 1.68601e-22 1 1 0 KCNV1 27012 broad.mit.edu 37 8 110984974 110984974 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr8:110984974C>T ENST00000524391.1 - 3 1536 c.504G>A c.(502-504)aaG>aaA p.K168K KCNV1_ENST00000297404.1_Silent_p.K168K Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 168 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CTGTGTCCTTCTTGAAGTCTA 0.398000 34 57 0 0 1 0 0 WEE1 7465 broad.mit.edu 37 11 9597625 9597625 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr11:9597625G>C ENST00000299613.6 + 2 880 c.125G>C c.(124-126)aGa>aCa p.R42T WEE1_ENST00000450114.2_Missense_Mutation_p.R256T NM_001143976.1 NP_001137448.1 P30291 WEE1_HUMAN WEE1 G2 checkpoint kinase 256 Poly-Glu. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) CGTAGAAAGAGAACGTATTGG 0.358000 33 48 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10401565 10401565 + Splice_Site SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:10401565C>A ENST00000397077.1 - 12 2342 c.e12+1 ATP2B2_ENST00000343816.4_Splice_Site|ATP2B2_ENST00000352432.4_Splice_Site|ATP2B2_ENST00000383800.4_Splice_Site|ATP2B2_ENST00000360273.2_Splice_Site Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CCAGCGCTTACTTCTTGAGCA 0.622000 23 44 3.6726e-16 4.17917e-16 1 1 0 LOC101927079 101927079 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 6 264 0 0 1 0 0 ERCC5 2073 broad.mit.edu 37 13 103506721 103506721 + Missense_Mutation SNP A A G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr13:103506721A>G ENST00000355739.4 + 4 1887 c.464A>G c.(463-465)cAc>cGc p.H155R BIVM-ERCC5_ENST00000602836.1_Silent_p.T580T|ERCC5_ENST00000535557.1_Missense_Mutation_p.H155R NM_000123.3 NP_000114 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GAAGAAAAACACAGGTAAATG 0.348000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 15 36 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123806102 123806102 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr12:123806102G>C ENST00000420886.2 - 16 2302 c.2303C>G c.(2302-2304)tCt>tGt p.S768C SBNO1_ENST00000267176.4_Missense_Mutation_p.S767C|SBNO1_ENST00000602398.1_Missense_Mutation_p.S768C|SBNO1_ENST00000602750.1_Missense_Mutation_p.S767C NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 768 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATCCTCATTAGACTCATCTAA 0.318000 31 63 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686243 125686243 + Missense_Mutation SNP A A G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chrX:125686243A>G ENST00000371126.1 - 1 591 c.349T>C c.(349-351)Tgt>Cgt p.C117R NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 117 p.C117R(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 AGCGTGTTACACTTGGTGCCG 0.642000 24 3 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195690247 195690247 + RNA SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:195690247C>T ENST00000427841.1 - 0 2248 NR_003264.2 GCACAGTCAGCCTCATTCAAA 0.413000 11 18 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 43 50 0 0 1 0 0 LPGAT1 9926 broad.mit.edu 37 1 211961046 211961046 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:211961046C>G ENST00000366997.4 - 4 607 c.381G>C c.(379-381)ttG>ttC p.L127F LPGAT1_ENST00000366996.1_Missense_Mutation_p.L127F NM_014873.2 NP_055688.1 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 127 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) TATGATCCATCAACCACATCA 0.343000 62 58 0 0 1 0 0 MRE11A 4361 broad.mit.edu 37 11 94194190 94194190 + Missense_Mutation SNP T T C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr11:94194190T>C ENST00000323929.3 - 12 1460 c.1238A>G c.(1237-1239)aAc>aGc p.N413S MRE11A_ENST00000407439.3_Missense_Mutation_p.N416S|MRE11A_ENST00000323977.3_Missense_Mutation_p.N413S|MRE11A_ENST00000393241.4_Missense_Mutation_p.N413S NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 413 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) TTTCCCAAAGTTGATCTCTTC 0.338000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 9 16 0 0 1 0 0 NSUN2 54888 broad.mit.edu 37 5 6611850 6611850 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr5:6611850G>C ENST00000264670.6 - 10 1394 c.1083C>G c.(1081-1083)atC>atG p.I361M NSUN2_ENST00000539938.1_Missense_Mutation_p.I125M|NSUN2_ENST00000506139.1_Missense_Mutation_p.I326M NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 361 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 TCCACTGTGTGATTCCAGGCA 0.443000 6 20 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44636539 44636539 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:44636539G>A ENST00000262894.6 + 5 2052 c.1772G>A c.(1771-1773)gGt>gAt p.G591D ZNF225_ENST00000590612.1_Missense_Mutation_p.G591D|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) AGACTCCATGGTGATGAAAAG 0.448000 18 29 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr2:178098960C>G ENST00000397062.3 - 2 639 c.85G>C c.(85-87)Gat>Cat p.D29H NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 29 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D29H(11)|p.D29N(2)|p.D29Y(2) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTCCAAGATCTATATCTTGC 0.363000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 52 13 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92479790 92479790 + Nonsense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:92479790C>T ENST00000370389.2 + 19 3508 c.2584C>T c.(2584-2586)Caa>Taa p.Q862* BRDT_ENST00000402388.1_Nonsense_Mutation_p.Q935*|BRDT_ENST00000394530.3_Nonsense_Mutation_p.Q889*|BRDT_ENST00000362005.3_Nonsense_Mutation_p.Q935*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.Q935* NM_001242810.1 NP_001229739 Q58F21 BRDT_HUMAN bromodomain, testis-specific 935 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) TATGACCCTTCAAAGTGACAT 0.259000 36 60 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178140129 178140129 + Silent SNP G G A rs149049991 TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr5:178140129G>A ENST00000335815.2 - 5 947 c.750C>T c.(748-750)gcC>gcT p.A250A NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 250 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) TTTGGCTAAAGGCTTTTGAAC 0.358000 25 45 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56524877 56524877 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr12:56524877C>G ENST00000394048.5 + 4 885 c.621C>G c.(619-621)atC>atG p.I207M ESYT1_ENST00000541590.1_Missense_Mutation_p.I207M|ESYT1_ENST00000267113.4_Missense_Mutation_p.I207M NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 207 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 AAGAGCAGATCCTGCTGGACT 0.517000 17 29 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49425038 49425038 + Nonsense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr12:49425038G>A ENST00000301067.7 - 39 13449 c.13450C>T c.(13450-13452)Cga>Tga p.R4484* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATCTCAGCTCGCAGCCCCTCG 0.597000 19 61 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138739282 138739282 + Missense_Mutation SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:138739282G>T ENST00000329447.5 - 1 486 c.222C>A c.(220-222)gaC>gaA p.D74E MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 74 p.D74D(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGTCGACGTCGTCCAGGGGCA 0.697000 10 11 7.48243e-07 7.76478e-07 1 1 0 MYO9B 4650 broad.mit.edu 37 19 17305834 17305834 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:17305834G>A ENST00000595618.1 + 22 3750 c.3598G>A c.(3598-3600)Gat>Aat p.D1200N MYO9B_ENST00000397274.2_Missense_Mutation_p.D1200N|MYO9B_ENST00000594824.1_Missense_Mutation_p.D1200N NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1200 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GAGCAGAGAAGATGAAACCCT 0.547000 9 20 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29684009 29684009 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr17:29684009C>T ENST00000358273.4 + 53 8153 c.7770C>T c.(7768-7770)caC>caT p.H2590H NF1_ENST00000356175.3_Silent_p.H2569H|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Silent_p.H383H NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2590 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CACAACAGCACCCACATTTAC 0.403000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 44 134 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39727620 39727620 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr17:39727620C>A ENST00000246662.4 - 1 690 c.625G>T c.(625-627)Gat>Tat p.D209Y KRT9_ENST00000588431.1_5'UTR NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 209 Coil 1B.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) TTGAGATCATCAATAGTGTTA 0.418000 37 63 8.73648e-17 1.00106e-16 1 1 0 KRT76 51350 broad.mit.edu 37 12 53170964 53170964 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr12:53170964C>T ENST00000332411.2 - 1 165 c.112G>A c.(112-114)Gga>Aga p.G38R NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 38 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCACCAGCTCCCCCAGAGCGG 0.617000 29 35 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117509680 117509680 + Missense_Mutation SNP T T G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:117509680T>G ENST00000393203.2 + 6 1934 c.1787T>G c.(1786-1788)cTc>cGc p.L596R NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 596 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) GTCGGCGACCTCTCCAGTCCC 0.483000 28 36 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1818734 1818734 + Missense_Mutation SNP A A C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:1818734A>C ENST00000170168.4 - 9 2967 c.2873T>G c.(2872-2874)tTc>tGc p.F958C NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 958 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCAGCTGTGAAGATGATTGC 0.677000 10 17 0 0 1 0 0 LUC7L 55692 broad.mit.edu 37 16 258139 258139 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr16:258139C>T ENST00000337351.4 - 4 427 c.304G>A c.(304-306)Gag>Aag p.E102K LUC7L_ENST00000397780.1_Missense_Mutation_p.E49K|LUC7L_ENST00000397783.1_Missense_Mutation_p.E102K|LUC7L_ENST00000293872.8_Missense_Mutation_p.E102K NM_018032.3 NP_060502.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 102 metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) TTGGCGAGCTCAGTTCTCCGA 0.478000 24 41 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52256336 52256336 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:52256336C>A ENST00000597542.1 - 9 3025 c.2068G>T c.(2068-2070)Gcc>Tcc p.A690S TLR9_ENST00000360658.2_Missense_Mutation_p.A666S|TLR9_ENST00000494383.1_Missense_Mutation_p.G819V Q9NR96 TLR9_HUMAN toll-like receptor 9 666 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TTAAAGAAGGCCAGGTAATTG 0.607000 27 63 1.08312e-15 1.22407e-15 1 1 0 RASGRF1 5923 broad.mit.edu 37 15 79339117 79339117 + Silent SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr15:79339117G>A ENST00000419573.3 - 5 1123 c.849C>T c.(847-849)caC>caT p.H283H RASGRF1_ENST00000558480.2_Silent_p.H283H|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 283 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TGACGTCGTCGTGTGTGATGG 0.577000 45 59 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45556217 45556217 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr18:45556217C>A ENST00000588982.1 - 4 1775 c.1274G>T c.(1273-1275)tGc>tTc p.C425F ZBTB7C_ENST00000590800.1_Missense_Mutation_p.C425F|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.C425F|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.C425F|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.C425F A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 425 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 CTTGGCGTTGCAGTGGATGCA 0.597000 10 23 1.04858e-14 1.16902e-14 1 1 0 IGHV1-45 28466 broad.mit.edu 37 14 106963095 106963095 + RNA SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr14:106963095C>A ENST00000390621.2 - 0 244 CACTCAAGCGCTTGTCCGGGG 0.542000 44 50 3.7052e-28 4.43013e-28 1 1 0 UGT2B11 10720 broad.mit.edu 37 4 70074116 70074116 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr4:70074116C>G ENST00000446444.1 - 3 963 c.955G>C c.(955-957)Gaa>Caa p.E319Q RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 319 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TTGGCCCTTTCTGCTGTCATG 0.428000 96 136 0 0 1 0 0 GANC 2595 broad.mit.edu 37 15 42643539 42643539 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr15:42643539G>C ENST00000318010.8 + 23 2784 c.2544G>C c.(2542-2544)caG>caC p.Q848H RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_5'UTR NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 848 Q -> R (in dbSNP:rs7180279). carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TTGCTGACCAGAGGGGTCATT 0.488000 35 39 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 5 65 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12577551 12577551 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:12577551G>C ENST00000397732.3 - 2 288 c.117C>G c.(115-117)aaC>aaG p.N39K ZNF709_ENST00000428311.1_Missense_Mutation_p.N39K|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.N39K NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TAGAGGCCAAGTTAACAAAGG 0.428000 23 58 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3257008 3257008 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr8:3257008C>A ENST00000602557.1 - 17 2868 c.2313G>T c.(2311-2313)ttG>ttT p.L771F CSMD1_ENST00000539096.1_Missense_Mutation_p.L770F|CSMD1_ENST00000400186.3_Missense_Mutation_p.L771F|CSMD1_ENST00000602723.1_Missense_Mutation_p.L771F|CSMD1_ENST00000542608.1_Missense_Mutation_p.L770F|CSMD1_ENST00000520002.1_Missense_Mutation_p.L771F|CSMD1_ENST00000537824.1_Missense_Mutation_p.L770F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 771 CUB 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATCCAGGAGGCAAAATGACTC 0.403000 11 19 0.00829132 0.00839305 1 1 0 TET2 54790 broad.mit.edu 37 4 106156348 106156348 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr4:106156348C>A ENST00000540549.1 + 3 2109 c.1249C>A c.(1249-1251)Cag>Aag p.Q417K TET2_ENST00000305737.2_Missense_Mutation_p.Q417K|TET2_ENST00000513237.1_Missense_Mutation_p.Q438K|TET2_ENST00000545826.1_Missense_Mutation_p.Q417K|TET2_ENST00000413648.2_Missense_Mutation_p.Q417K|TET2_ENST00000380013.4_Missense_Mutation_p.Q417K|TET2_ENST00000394764.1_Missense_Mutation_p.Q417K Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 417 Pro-rich. 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) ACAGGTTCCTCAGCTTCCTTC 0.463000 """Mis N, F""" MDS 37 52 4.62619e-21 5.41363e-21 1 1 0 TSC1 7248 broad.mit.edu 37 9 135772845 135772845 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr9:135772845C>T ENST00000298552.3 - 21 2999 c.2778G>A c.(2776-2778)caG>caA p.Q926Q TSC1_ENST00000440111.2_Silent_p.Q926Q|TSC1_ENST00000545250.1_Silent_p.Q875Q NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 926 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GATATTTCTTCTGTTCCAAAA 0.433000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 72 92 0 0 1 0 0 ARCN1 372 broad.mit.edu 37 11 118453966 118453966 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr11:118453966G>C ENST00000359415.4 + 4 628 c.463G>C c.(463-465)Gat>Cat p.D155H ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000264028.4_Missense_Mutation_p.D114H|ARCN1_ENST00000392859.3_Missense_Mutation_p.D26H P48444 COPD_HUMAN archain 1 114 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTTTGCTTTTGATGAAATTGT 0.408000 30 67 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104152952 104152952 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr12:104152952C>T ENST00000388887.2 + 65 7353 c.7149C>T c.(7147-7149)gtC>gtT p.V2383V RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2383 FAS1 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TCGCCAATGTCAGCATGTTTT 0.507000 28 61 0 0 1 0 0 DSCR3 10311 broad.mit.edu 37 21 38604747 38604747 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr21:38604747C>G ENST00000288304.5 - 5 1104 c.312G>C c.(310-312)caG>caC p.Q104H DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000399001.1_Missense_Mutation_p.Q21H|DSCR3_ENST00000398998.1_Missense_Mutation_p.Q98H|DSCR3_ENST00000539844.1_Missense_Mutation_p.Q69H|DSCR3_ENST00000476950.1_Missense_Mutation_p.Q119H|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000309117.6_Missense_Mutation_p.Q146H O14972 DSCR3_HUMAN Down syndrome critical region gene 3 146 vacuolar transport nucleus|retromer complex endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 ACTTCCCCTTCTGAGGCTAAA 0.488000 11 18 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178140210 178140210 + Missense_Mutation SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr5:178140210G>T ENST00000335815.2 - 5 866 c.669C>A c.(667-669)ttC>ttA p.F223L NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 223 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) AAGTGTTAATGAAGGTTTTTT 0.333000 30 61 7.26314e-15 8.15251e-15 1 1 0 USP34 9736 broad.mit.edu 37 2 61508328 61508328 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr2:61508328G>A ENST00000398571.2 - 38 5124 c.5048C>T c.(5047-5049)tCa>tTa p.S1683L NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1683 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) ATCCAGCCCTGACAGGGATAA 0.398000 18 20 0 0 1 0 0 INIP 58493 broad.mit.edu 37 9 115456466 115456466 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr9:115456466C>G ENST00000374242.4 - 3 378 c.73G>C c.(73-75)Gag>Cag p.E25Q INIP_ENST00000497712.2_5'UTR|INIP_ENST00000374238.1_5'UTR|INIP_ENST00000374234.1_5'UTR|INIP_ENST00000374236.1_5'UTR NM_021218.1 NP_067041.1 INTS3 and NABP interacting protein TTTCTTTTCTCTTTGTCCAGT 0.343000 32 49 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814835 106814835 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr8:106814835G>A ENST00000407775.2 + 8 2775 c.2525G>A c.(2524-2526)cGg>cAg p.R842Q RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R710Q|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R573Q|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R710Q|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 842 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAGTCTGAGCGGACGACCACG 0.463000 6 4 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42168767 42168767 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr15:42168767C>A ENST00000320955.6 - 20 4157 c.3930G>T c.(3928-3930)ttG>ttT p.L1310F NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1310 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GGGAAGCCAGCAACTGCCTCC 0.637000 3 8 0.004672 0.00475852 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113347652 113347652 + Silent SNP G G A rs113449703 TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr8:113347652G>A ENST00000297405.5 - 45 7315 c.7071C>T c.(7069-7071)acC>acT p.T2357T CSMD3_ENST00000352409.3_Silent_p.T2287T|CSMD3_ENST00000455883.2_Silent_p.T2253T|CSMD3_ENST00000343508.3_Silent_p.T2317T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2357 CUB 13. integral to membrane|plasma membrane p.T2317T(1)|p.T2357T(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATTCCAAAGCGGTATTGCCAC 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 29 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9324768 9324768 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:9324768G>A ENST00000308682.2 - 1 774 c.746C>T c.(745-747)tCc>tTc p.S249F NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 ATAGAACAAGGAGACCACACA 0.517000 25 34 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54656950 54656950 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:54656950C>T ENST00000358389.3 + 17 2381 c.1527C>T c.(1525-1527)agC>agT p.S509S CNOT3_ENST00000221232.5_Intron|CNOT3_ENST00000496327.1_Intron|CNOT3_ENST00000406403.1_Intron O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 316 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGGTTGACAGCGAGGCTGGTC 0.672000 8 25 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280702 105280702 + Silent SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chrX:105280702G>A ENST00000327674.4 - 1 683 c.348C>T c.(346-348)atC>atT p.I116I SERPINA7_ENST00000372563.1_Silent_p.I116I P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 116 I -> N (in TBG deficiency; Gary; severe TBG deficiency; dbSNP:rs28933689). regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) TCAGTGAACAGATCAGATGCT 0.478000 52 21 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178140036 178140036 + Silent SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr5:178140036G>A ENST00000335815.2 - 5 1040 c.843C>T c.(841-843)ctC>ctT p.L281L NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 281 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) GGGATGTACTGAGAGTAAAGG 0.388000 61 92 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211093074 211093074 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:211093074G>A ENST00000367007.4 - 7 1458 c.1289C>T c.(1288-1290)aCa>aTa p.T430I KCNH1_ENST00000271751.4_Missense_Mutation_p.T457I NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 457 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GCTGGTCATTGTGAAATACAA 0.493000 29 95 0 0 1 0 0 PFKFB3 5209 broad.mit.edu 37 10 6263488 6263488 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr10:6263488G>A ENST00000379775.4 + 9 1306 c.976G>A c.(976-978)Gcg>Acg p.A326T PFKFB3_ENST00000317350.4_Missense_Mutation_p.A326T|PFKFB3_ENST00000379785.1_Missense_Mutation_p.A326T|PFKFB3_ENST00000379782.3_Missense_Mutation_p.A326T|PFKFB3_ENST00000360521.2_Missense_Mutation_p.A326T|PFKFB3_ENST00000379789.4_Missense_Mutation_p.A306T|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.A340T NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 326 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 TGAGATCGACGCGGTGAGTCC 0.672000 6 11 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17305626 17305626 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:17305626G>C ENST00000595618.1 + 22 3542 c.3390G>C c.(3388-3390)caG>caC p.Q1130H MYO9B_ENST00000397274.2_Missense_Mutation_p.Q1130H|MYO9B_ENST00000594824.1_Missense_Mutation_p.Q1130H NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1130 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 TCCCACCCCAGAAAACCGTGG 0.612000 7 23 0 0 1 0 0 SERAC1 84947 broad.mit.edu 37 6 158535905 158535905 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr6:158535905G>A ENST00000367104.3 - 15 1731 c.1600C>T c.(1600-1602)Cat>Tat p.H534Y SERAC1_ENST00000367102.2_3'UTR|SERAC1_ENST00000367101.1_3'UTR NM_032861.3 NP_116250.3 Q96JX3 SRAC1_HUMAN serine active site containing 1 534 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) GATCCATGATGAGGGACACTA 0.393000 111 165 0 0 1 0 0 TRAV1-1 28693 broad.mit.edu 37 14 22090453 22090453 + RNA SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr14:22090453G>C ENST00000542354.1 + 0 125 GCAGGACAAAGCCTTGAGCAG 0.473000 18 28 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17305752 17305752 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:17305752G>C ENST00000595618.1 + 22 3668 c.3516G>C c.(3514-3516)gaG>gaC p.E1172D MYO9B_ENST00000397274.2_Missense_Mutation_p.E1172D|MYO9B_ENST00000594824.1_Missense_Mutation_p.E1172D NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1172 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GCAAGGAGGAGAGTGCCCTCA 0.557000 11 33 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147475418 147475418 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr5:147475418C>G ENST00000359874.3 + 10 905 c.832C>G c.(832-834)Caa>Gaa p.Q278E SPINK5_ENST00000256084.7_Missense_Mutation_p.Q278E|SPINK5_ENST00000398454.1_Missense_Mutation_p.Q278E|SPINK5_ENST00000476608.1_3'UTR NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 278 Kazal-like 4. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAAACAGATCAAAATTTGGG 0.348000 43 48 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1415425 1415425 + Missense_Mutation SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:1415425G>T ENST00000446702.2 + 15 2551 c.1924G>T c.(1924-1926)Ggt>Tgt p.G642C CNTN6_ENST00000539053.1_Missense_Mutation_p.G570C|CNTN6_ENST00000350110.2_Missense_Mutation_p.G642C Q9UQ52 CNTN6_HUMAN contactin 6 642 Fibronectin type-III 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATTTTCTGTGGGTTGGCAGGC 0.353000 37 40 7.91308e-09 8.31629e-09 1 1 0 CCDC108 255101 broad.mit.edu 37 2 219874109 219874109 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr2:219874109G>A ENST00000341552.5 - 28 4609 c.4526C>T c.(4525-4527)tCt>tTt p.S1509F CCDC108_ENST00000441968.1_Missense_Mutation_p.S1509F|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.S1509F NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1509 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCATGCACAGAGGCCCTCAA 0.577000 36 14 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52526118 52526118 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:52526118G>A ENST00000345716.4 + 21 4269 c.4135G>A c.(4135-4137)Gag>Aag p.E1379K NISCH_ENST00000479054.1_Missense_Mutation_p.E1379K NM_007184.3 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1379 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CACCAGCTCCGAGATCTTCCT 0.657000 17 29 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100518241 100518241 + Silent SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr4:100518241G>A ENST00000457717.1 + 9 1183 c.927G>A c.(925-927)cgG>cgA p.R309R RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.R309R|MTTP_ENST00000511045.1_Silent_p.R336R NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 309 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AGCTCTGGCGGTCCACCAGGA 0.498000 4 128 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 79010959 79010959 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr10:79010959G>A ENST00000286627.5 - 3 1548 c.596C>T c.(595-597)tCa>tTa p.S199L KCNMA1_ENST00000354353.5_Missense_Mutation_p.S199L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S199L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.S199L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S199L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S199L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S199L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S199L NM_001271519.1|NM_002247.3 NP_001258448.1|NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 199 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TCACTTTGATGAATCTATGAA 0.373000 OREG0020289 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 18 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595719 179595719 + Silent SNP T T G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr2:179595719T>G ENST00000589042.1 - 60 17897 c.17673A>C c.(17671-17673)ggA>ggC p.G5891G TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.G5574G|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.G4647G|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5574 Ig-like 40. 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) AAGTATATTCTCCACTATCTT 0.393000 96 32 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29221101 29221101 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr17:29221101G>A ENST00000321990.4 + 21 5608 c.5230G>A c.(5230-5232)Gat>Aat p.D1744N NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1744 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TCCAACCAACGATCTTACTTT 0.333000 3 47 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118581957 118581957 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:118581957C>G ENST00000336338.5 - 23 3342 c.3277G>C c.(3277-3279)Gaa>Caa p.E1093Q NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1093 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCTTCCTCTTCTAAATAATAA 0.373000 20 22 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53057033 53057033 + Missense_Mutation SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:53057033G>T ENST00000359798.4 + 5 1044 c.864G>T c.(862-864)aaG>aaT p.K288N NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AACCTTACAAGTGTAAAGAGT 0.398000 48 97 5.2432e-18 6.04985e-18 1 1 0 ZSWIM8 23053 broad.mit.edu 37 10 75552335 75552335 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr10:75552335G>A ENST00000604729.1 + 10 2335 c.2038G>A c.(2038-2040)Gag>Aag p.E680K ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.E680K|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.E680K|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.E680K|ZSWIM8_ENST00000431225.1_3'UTR zinc finger, SWIM-type containing 8 GGAAGGGCCTGAGCCTCCCAC 0.597000 11 18 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112178837 112178837 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr5:112178837G>C ENST00000457016.1 + 16 7926 c.7546G>C c.(7546-7548)Gag>Cag p.E2516Q APC_ENST00000257430.4_Missense_Mutation_p.E2516Q|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E2516Q P25054 APC_HUMAN adenomatous polyposis coli 2516 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCCCACTATAGAGTATAATGA 0.453000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 44 73 0 0 1 0 0 TRIM59 286827 broad.mit.edu 37 3 160155928 160155928 + Missense_Mutation SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:160155928G>T ENST00000309784.4 - 3 1229 c.1044C>A c.(1042-1044)ttC>ttA p.F348L TRIM59_ENST00000543469.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron NM_173084.2 NP_775107.1 Q8IWR1 TRI59_HUMAN tripartite motif containing 59 348 integral to membrane|intracellular zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGTGTTGGTTGAAAAAGAGTA 0.313000 16 39 6.72482e-11 7.25226e-11 1 1 0 ZFP69 339559 broad.mit.edu 37 1 40960733 40960733 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:40960733G>C ENST00000372706.1 + 6 1589 c.583G>C c.(583-585)Gat>Cat p.D195H ZFP69_ENST00000372705.3_Missense_Mutation_p.D195H|RP11-656D10.3_ENST00000450713.1_RNA ZFP69 zinc finger protein CTCCACATATGATGATGTCTT 0.393000 32 52 0 0 1 0 0 WDR26 80232 broad.mit.edu 37 1 224606026 224606026 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:224606026G>A ENST00000414423.2 - 6 1148 c.955C>T c.(955-957)Cac>Tac p.H319Y WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.H172Y NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 319 cytoplasm|nucleus biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) TTGGTATTGTGATATAGGCAC 0.428000 32 73 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139754465 139754465 + Nonsense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr7:139754465G>A ENST00000263549.3 - 4 1732 c.859C>T c.(859-861)Caa>Taa p.Q287* NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 287 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) AACTTACCTTGAAAGCTACAA 0.478000 28 58 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8375966 8375966 + Missense_Mutation SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr9:8375966G>T ENST00000381196.4 - 36 5174 c.4631C>A c.(4630-4632)cCc>cAc p.P1544H PTPRD_ENST00000397611.3_Missense_Mutation_p.P1134H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1544H|PTPRD_ENST00000397606.3_Missense_Mutation_p.P1137H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P1137H|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1544H|PTPRD_ENST00000397617.3_Missense_Mutation_p.P1137H|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1531H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1522H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P1138H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P1134H NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1544 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ACCAGCATCGGGAGGGTTACA 0.473000 TSP Lung(15;0.13) 16 22 6.31663e-08 6.59648e-08 1 1 0 PCDHA3 56145 broad.mit.edu 37 5 140181491 140181491 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr5:140181491G>A ENST00000522353.2 + 1 709 c.709G>A c.(709-711)Gac>Aac p.D237N PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D237N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 p.D237N(2) NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATGTAAACGACAACGCCCC 0.443000 29 23 0 0 1 0 0 LAYN 143903 broad.mit.edu 37 11 111414870 111414870 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr11:111414870G>A ENST00000436913.2 + 2 432 c.31G>A c.(31-33)Gtg>Atg p.V11M LAYN_ENST00000533265.1_Missense_Mutation_p.R103H|LAYN_ENST00000375615.3_Missense_Mutation_p.R111H|LAYN_ENST00000525126.1_Missense_Mutation_p.R111H|LAYN_ENST00000375614.2_Missense_Mutation_p.R103H|LAYN_ENST00000528924.1_3'UTR NM_001258391.1 NP_001245320.1 Q6UX15 LAYN_HUMAN layilin 0 cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) CTCAGGAGGCGTGAGGAGAAA 0.468000 10 16 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 3 44 0 0 1 0 0 CYTL1 54360 broad.mit.edu 37 4 5018622 5018622 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr4:5018622C>G ENST00000307746.4 - 3 294 c.268G>C c.(268-270)Gat>Cat p.D90H NM_018659.2 NP_061129.1 Q9NRR1 CYTL1_HUMAN cytokine-like 1 90 signal transduction extracellular space|soluble fraction receptor binding breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) TTCAAGGAATCTACCTGGGCC 0.522000 43 59 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20852648 20852648 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr14:20852648C>A ENST00000262715.5 - 23 3281 c.3241G>T c.(3241-3243)Ggt>Tgt p.G1081C TEP1_ENST00000556935.1_Missense_Mutation_p.G973C NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GCTGCCACACCCCCCCACTCA 0.587000 42 77 9.84934e-19 1.14447e-18 1 1 0 GPR171 29909 broad.mit.edu 37 3 150917051 150917051 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:150917051C>A ENST00000309180.5 - 3 353 c.123G>T c.(121-123)caG>caT p.Q41H MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 41 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCGTATTCTTCTGTATAAAAG 0.363000 32 46 6.50621e-10 6.97094e-10 1 1 0 ZNF808 388558 broad.mit.edu 37 19 53057032 53057032 + Missense_Mutation SNP A A G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:53057032A>G ENST00000359798.4 + 5 1043 c.863A>G c.(862-864)aAg>aGg p.K288R NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AAACCTTACAAGTGTAAAGAG 0.403000 49 97 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27493804 27493804 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr17:27493804G>A ENST00000527372.1 - 2 335 c.155C>T c.(154-156)tCc>tTc p.S52F MYO18A_ENST00000533112.1_Missense_Mutation_p.S52F|MYO18A_ENST00000354329.4_Missense_Mutation_p.S52F|MYO18A_ENST00000531253.1_Missense_Mutation_p.S52F NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 52 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TTCACGCTTGGAGGAGCGGTT 0.567000 7 11 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563777 55563777 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr11:55563777C>A ENST00000335605.1 + 1 746 c.746C>A c.(745-747)tCt>tAt p.S249Y NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 249 S -> A (in dbSNP:rs297054). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) CACCTGACTTCTATCACCATC 0.453000 12 27 5.35356e-11 5.81143e-11 1 1 0 THBS3 7059 broad.mit.edu 37 1 155175090 155175090 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:155175090G>A ENST00000368378.3 - 3 324 c.304C>T c.(304-306)Cgg>Tgg p.R102W THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000541990.1_5'UTR NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 102 TSP N-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) 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) CCATCCTCCCGCTGGTATCGC 0.622000 29 22 0 0 1 0 0 C10orf129 142827 broad.mit.edu 37 10 96971671 96971671 + Nonsense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr10:96971671G>A ENST00000341686.3 + 6 917 c.792G>A c.(790-792)tgG>tgA p.W264* C10orf129_ENST00000394005.3_Nonsense_Mutation_p.W264*|C10orf129_ENST00000430183.1_Nonsense_Mutation_p.W109* NM_207321.2 NP_997204.2 Q6P461 ACSM6_HUMAN chromosome 10 open reading frame 129 264 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) ATGTCTTGTGGAGTCTGGGTG 0.473000 24 38 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1818733 1818733 + Silent SNP G G A rs2304614 byFrequency TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:1818733G>A ENST00000170168.4 - 9 2968 c.2874C>T c.(2872-2874)ttC>ttT p.F958F NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 958 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCAGCTGTGAAGATGATTG 0.672000 10 17 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103324050 103324050 + Silent SNP T T C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr8:103324050T>C ENST00000520539.1 - 19 2937 c.2331A>G c.(2329-2331)aaA>aaG p.K777K UBR5_ENST00000521922.1_Silent_p.K771K|UBR5_ENST00000220959.4_Silent_p.K777K NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 777 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCTGTTCTGCTTTTCCTGTAG 0.398000 3 60 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18847400 18847400 + Silent SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr16:18847400G>A ENST00000446231.2 - 48 8324 c.7912C>T c.(7912-7914)Ctg>Ttg p.L2638L SMG1_ENST00000389467.3_Silent_p.L2638L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2638 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 AGTTGCTCCAGACAGCCACGG 0.567000 6 6 0 0 1 0 0 SNX29P2 440352 broad.mit.edu 37 16 29376089 29376089 + RNA SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr16:29376089C>T ENST00000398878.3 + 0 1517 SNX29P2_ENST00000507381.1_RNA p.S125F(1) GAGCAGAACTCTGGGGACATG 0.453000 3 55 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74319665 74319665 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr9:74319665C>T ENST00000377044.4 - 18 3579 c.3040G>A c.(3040-3042)Gag>Aag p.E1014K TMEM2_ENST00000396272.3_Missense_Mutation_p.E7K|TMEM2_ENST00000377066.5_Missense_Mutation_p.E951K NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 1014 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GACGGATACTCATCTCGTGTA 0.423000 25 39 0 0 1 0 0 EXO1 9156 broad.mit.edu 37 1 242042437 242042437 + Missense_Mutation SNP G G T rs4149978 byFrequency TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:242042437G>T ENST00000366548.3 + 13 2494 c.1901G>T c.(1900-1902)cGa>cTa p.R634L EXO1_ENST00000348581.5_Missense_Mutation_p.R634L|EXO1_ENST00000518483.1_Missense_Mutation_p.R634L NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 634 Interaction with MSH2. R -> Q (in dbSNP:rs4149978). meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CAGCAGTTCCGAAGAAAGAGC 0.478000 Editing and processing nucleases 26 71 4.47668e-21 5.27609e-21 1 1 0 GABPA 2551 broad.mit.edu 37 21 27141413 27141413 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr21:27141413C>T ENST00000354828.3 + 10 1762 c.1235C>T c.(1234-1236)gCg>gTg p.A412V GABPA_ENST00000400075.3_Missense_Mutation_p.A412V NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa 412 positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 TACAGTGCAGCGGAGTTGAAC 0.433000 48 78 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151288456 151288456 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:151288456G>A ENST00000368875.2 - 3 1118 c.538C>T c.(538-540)Cgc>Tgc p.R180C PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Missense_Mutation_p.R180C|PI4KB_ENST00000368874.4_Missense_Mutation_p.R168C|PI4KB_ENST00000368872.1_Missense_Mutation_p.R168C|PI4KB_ENST00000368873.1_Missense_Mutation_p.R168C NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 168 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCCTCGTTGCGAAAGCAGAAG 0.488000 88 75 0 0 1 0 0 SQSTM1 8878 broad.mit.edu 37 5 179247944 179247944 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr5:179247944C>T ENST00000389805.4 + 1 186 c.8C>T c.(7-9)tCg>tTg p.S3L SQSTM1_ENST00000510187.1_Missense_Mutation_p.S3L|SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000402874.3_5'UTR NM_003900.4 NP_003891.1 Q13501 SQSTM_HUMAN sequestosome 1 3 Interaction with LCK. anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTATGGCGTCGCTCACCGTG 0.711000 5 15 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108235874 108235874 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr11:108235874G>C ENST00000278616.4 + 62 9301 c.8916G>C c.(8914-8916)caG>caC p.Q2972H C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.Q2972H|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2972 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATTTACAGCAGAGGCCGGAAG 0.398000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 31 46 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102484885 102484885 + Missense_Mutation SNP A A T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr14:102484885A>T ENST00000360184.4 + 41 8439 c.8275A>T c.(8275-8277)Att>Ttt p.I2759F NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2759 AAA 3 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GCTGAGGCTCATTCCATCCCT 0.577000 20 30 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35749414 35749414 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr20:35749414G>C ENST00000400441.3 - 16 2001 c.2002C>G c.(2002-2004)Ctc>Gtc p.L668V MROH8_ENST00000441008.2_Missense_Mutation_p.L654V|MROH8_ENST00000217333.8_Missense_Mutation_p.L497V maestro heat-like repeat family member 8 CTGAGGAGGAGAGTCTTTGTA 0.463000 5 11 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48952828 48952828 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr2:48952828G>C ENST00000294954.7 - 4 391 c.370C>G c.(370-372)Cga>Gga p.R124G LHCGR_ENST00000344775.3_Missense_Mutation_p.R124G|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.R124G|LHCGR_ENST00000403273.1_Missense_Mutation_p.R124G|LHCGR_ENST00000401907.1_Missense_Mutation_p.R124G NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 124 R -> G (in Ref. 1; AAA59515 and 4; CAA59234). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TATTTTAATCGGGGAAGATTT 0.363000 83 106 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30092450 30092450 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr7:30092450C>T ENST00000449726.1 + 7 1114 c.764C>T c.(763-765)tCa>tTa p.S255L PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S255L|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S255L|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S255L NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 255 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 TGCAGCATATCAAGTGAGGAA 0.279000 15 28 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7065160 7065160 + Missense_Mutation SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr11:7065160G>T ENST00000299481.4 + 4 2249 c.1903G>T c.(1903-1905)Gta>Tta p.V635L NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 635 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CAGGCTGTCTGTAACTGTGGT 0.428000 33 52 2.04263e-09 2.16048e-09 1 1 0 MAP7 9053 broad.mit.edu 37 6 136871504 136871504 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr6:136871504C>G ENST00000354570.3 - 1 453 c.43G>C c.(43-45)Gac>Cac p.D15H NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 15 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) ACTGCGCCGTCGCCGCCCCTG 0.741000 2 1 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60760350 60760350 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr15:60760350C>G ENST00000261520.4 - 4 552 c.318G>C c.(316-318)agG>agC p.R106S NARG2_ENST00000561114.1_Missense_Mutation_p.R106S|NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000439632.1_5'UTR NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 106 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCACATAACTCCTCTGCTCTC 0.373000 35 41 0 0 1 0 0 ETNPPL 64850 broad.mit.edu 37 4 109663689 109663689 + Missense_Mutation SNP C C G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr4:109663689C>G ENST00000296486.3 - 13 1605 c.1451G>C c.(1450-1452)gGa>gCa p.G484A ETNPPL_ENST00000510706.1_Missense_Mutation_p.G444A|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G426A|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G478A NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase CGTGCACATTCCATTTCTCTT 0.448000 40 75 0 0 1 0 0 CASP9 842 broad.mit.edu 37 1 15844866 15844866 + Missense_Mutation SNP C C A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr1:15844866C>A ENST00000546424.1 - 2 401 c.157G>T c.(157-159)Gat>Tat p.D53Y CASP9_ENST00000333868.5_Missense_Mutation_p.D53Y|CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000348549.5_Missense_Mutation_p.D53Y P55211 CASP9_HUMAN caspase 9, apoptosis-related cysteine peptidase 53 CARD. activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1) 18 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) CTGGCCTGATCCCGCCGAGAT 0.527000 24 42 7.92952e-12 8.66471e-12 1 1 0 SBNO1 55206 broad.mit.edu 37 12 123805390 123805390 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr12:123805390G>A ENST00000420886.2 - 17 2346 c.2347C>T c.(2347-2349)Cac>Tac p.H783Y SBNO1_ENST00000267176.4_Missense_Mutation_p.H782Y|SBNO1_ENST00000602398.1_Missense_Mutation_p.H783Y|SBNO1_ENST00000602750.1_Missense_Mutation_p.H782Y NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 783 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TTTTTCTTGTGGTCTTTTCTA 0.323000 13 48 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98660336 98660336 + Silent SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr13:98660336G>C ENST00000261574.5 + 18 1974 c.1794G>C c.(1792-1794)gtG>gtC p.V598V IPO5_ENST00000539640.1_Silent_p.V455V|IPO5_ENST00000490680.1_Silent_p.V580V NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 580 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 CATCAGATGTGATGCAGCTTT 0.383000 16 28 0 0 1 0 0 NONO 4841 broad.mit.edu 37 X 70510515 70510515 + Missense_Mutation SNP G G C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chrX:70510515G>C ENST00000276079.8 + 3 233 c.28G>C c.(28-30)Gag>Cag p.E10Q NONO_ENST00000373856.3_Missense_Mutation_p.E10Q|NONO_ENST00000373841.1_Missense_Mutation_p.E10Q|NONO_ENST00000535149.1_Intron NM_007363.4 NP_031389.3 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 10 DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) TTTTAACTTGGAGAAGCAAAA 0.433000 T TFE3 papillary renal cancer 39 9 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23066305 23066305 + Silent SNP A A G TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr20:23066305A>G ENST00000246006.4 - 1 672 c.525T>C c.(523-525)atT>atC p.I175I NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 175 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CGAAGCCCTCAATGTTACTTC 0.652000 9 29 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682587 100682587 + Missense_Mutation SNP A A C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr7:100682587A>C ENST00000306151.4 + 3 7954 c.7890A>C c.(7888-7890)gaA>gaC p.E2630D NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2630 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTCCTAGTGAAGTAAGTACTT 0.463000 6 210 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61508295 61508295 + Missense_Mutation SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr2:61508295G>T ENST00000398571.2 - 38 5157 c.5081C>A c.(5080-5082)tCt>tAt p.S1694Y NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1694 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TAGCAGAAAAGAACGATTGAT 0.398000 10 20 6.42651e-13 7.06916e-13 1 1 0 ALDH8A1 64577 broad.mit.edu 37 6 135254133 135254133 + Silent SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr6:135254133G>T ENST00000265605.2 - 5 698 c.630C>A c.(628-630)acC>acA p.T210T ALDH8A1_ENST00000367847.2_Silent_p.T160T|ALDH8A1_ENST00000367845.2_Silent_p.T210T NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 210 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CCCTGGGCCCGGTTCCAAACA 0.552000 13 11 0.000151284 0.000155043 1 1 0 GIMAP7 168537 broad.mit.edu 37 7 150217217 150217217 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr7:150217217G>A ENST00000313543.4 + 2 312 c.155G>A c.(154-156)cGg>cAg p.R52Q NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 52 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAAGCATCCCGGGAATGGCAG 0.507000 13 24 0 0 1 0 0 PHLDA1 22822 broad.mit.edu 37 12 76424754 76424754 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr12:76424754C>T ENST00000266671.5 - 1 2958 c.768G>A c.(766-768)atG>atA p.M256I PHLDA1_ENST00000602540.1_Missense_Mutation_p.M115I|RP11-290L1.3_ENST00000552367.1_RNA Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 256 PH. apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) TGCCCTCTGCCATCACCACAG 0.572000 12 19 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184009952 184009952 + Missense_Mutation SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:184009952C>T ENST00000402825.3 + 19 2578 c.2578C>T c.(2578-2580)Cgt>Tgt p.R860C EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R713C|ECE2_ENST00000357474.5_Missense_Mutation_p.R788C|ECE2_ENST00000404464.3_Missense_Mutation_p.R742C NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 860 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTCCAACTCCCGTGACTTCCT 0.662000 17 37 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951592 119951592 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr4:119951592C>T ENST00000307142.4 + 4 1858 c.1662C>T c.(1660-1662)taC>taT p.Y554Y SYNPO2_ENST00000434046.2_Silent_p.Y554Y|SYNPO2_ENST00000429713.2_Silent_p.Y554Y|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 554 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCAAAAGCTACATCGAGGTGA 0.502000 11 37 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75435902 75435902 + Silent SNP C C T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr9:75435902C>T ENST00000297784.5 + 20 2448 c.1908C>T c.(1906-1908)taC>taT p.Y636Y TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.Y636Y|TMC1_ENST00000340019.3_Silent_p.Y636Y NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 636 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 ATAACTTCTACCTGGGCATGC 0.493000 8 129 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209103820 209103820 + Frame_Shift_Del DEL C C - TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr2:209103820delC ENST00000415913.1 - 9 1510 c.1129delG c.(1129-1131)gctfs p.A378fs IDH1_ENST00000446179.1_Frame_Shift_Del_p.A378fs|IDH1_ENST00000345146.2_Frame_Shift_Del_p.A378fs NM_001282387.1 NP_001269316.1 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 378 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATGCAAGCAGCCAAGTCCTTG 0.418 Mis gliobastoma 74 22 --- --- --- --- VILL 50853 broad.mit.edu 37 3 38039624 38039625 + Frame_Shift_Ins INS - - C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr3:38039624_38039625insC ENST00000283713.6 + 8 1074_1075 c.808_809insC c.(808-810)accfs p.T270fs VILL_ENST00000383759.2_Frame_Shift_Ins_p.T270fs|VILL_ENST00000465644.1_Intron O15195 VILL_HUMAN villin-like 270 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GGAGTTGGCGACCCCCCCACTG 0.644 8 24 --- --- --- --- FBXW7 55294 broad.mit.edu 37 4 153253821 153253837 + Frame_Shift_Del DEL TGCTTGTAGCAGGTCTT TGCTTGTAGCAGGTCTT - rs150506693 by1000genomes TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr4:153253821_153253837delTGCTTGTAGCAGGTCTT ENST00000281708.4 - 6 2125_2141 c.896_912delAAGACCTGCTACAAGCA c.(895-912)aaagacctgctacaagcafs p.KDLLQA299fs FBXW7_ENST00000603548.1_Frame_Shift_Del_p.KDLLQA299fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.KDLLQA219fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.KDLLQA299fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.KDLLQA123fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.KDLLQA181fs NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 299 F-box. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.Q303*(1)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATGTCTGAGCTGCTTGTAGCAGGTCTTTGGGTTCCAG 0.346 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 7 46 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187629069 187629070 + Frame_Shift_Ins INS - - C TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr4:187629069_187629070insC ENST00000441802.2 - 2 2121_2122 c.1912_1913insG c.(1912-1914)gtgfs p.V638fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 638 Cadherin 5. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTGGAAAGACACCTTTGCACCT 0.421 HNSCC(5;0.00058) 39 67 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151845346 151845346 + Frame_Shift_Del DEL G G - TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr7:151845346delG ENST00000355193.2 - 53 14055 c.13837delC c.(13837-13839)cacfs p.H4613fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.H4556fs lysine (K)-specific methyltransferase 2C CCAATTGTGTGGAAGATGAGG 0.542 20 9 --- --- --- --- LOC101929066 101929066 broad.mit.edu 37 8 17946060 17946060 + RNA DEL T T - rs142591230 TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr8:17946060delT ENST00000499554.2 + 0 483 CTD-2547L16.1_ENST00000521775.1_RNA GTGAACACTCttttttttttt 0.438 5 5 --- --- --- --- TSC2 7249 broad.mit.edu 37 16 2121862 2121862 + Frame_Shift_Del DEL C C - rs137854309 TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr16:2121862delC ENST00000219476.3 + 19 2654 c.2024delC c.(2023-2025)gcafs p.A675fs TSC2_ENST00000382538.6_Frame_Shift_Del_p.A626fs|TSC2_ENST00000350773.4_Frame_Shift_Del_p.A675fs|TSC2_ENST00000401874.2_Frame_Shift_Del_p.A675fs|TSC2_ENST00000353929.4_Frame_Shift_Del_p.A675fs|TSC2_ENST00000568454.1_Frame_Shift_Del_p.A686fs|TSC2_ENST00000439673.2_Frame_Shift_Del_p.A638fs NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 675 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CCGGCGCCTGCAGGCCCCGCC 0.682 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 2 4 --- --- --- --- SLC16A11 162515 broad.mit.edu 37 17 6945594 6945594 + Frame_Shift_Del DEL G G - TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr17:6945594delG ENST00000308009.1 - 3 1244 c.907delC c.(907-909)caafs p.Q303fs SLC16A11_ENST00000447225.1_Frame_Shift_Del_p.Q279fs NM_153357.1 NP_699188.1 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 303 integral to membrane|plasma membrane symporter activity endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2) 9 ACCCAGCCTTGGTCTGCCAGC 0.731 2 4 --- --- --- --- BRSK1 84446 broad.mit.edu 37 19 55815036 55815036 + Splice_Site DEL C C - TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr19:55815036delC ENST00000309383.1 + 12 1405 c.1128delC c.(1126-1128)gac>ga p.D376fs BRSK1_ENST00000326848.7_Splice_Site_p.D71fs|BRSK1_ENST00000590333.1_Splice_Site_p.D392fs NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 376 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.R379fs*9(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GTCCCTCAGACCCCCCCCGGA 0.582 7 64 --- --- --- --- BFSP1 631 broad.mit.edu 37 20 17477654 17477654 + Frame_Shift_Del DEL A A - TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chr20:17477654delA ENST00000377873.3 - 7 1010 c.971delT c.(970-972)ttcfs p.F324fs BFSP1_ENST00000536626.1_Frame_Shift_Del_p.F185fs|BFSP1_ENST00000544874.1_Frame_Shift_Del_p.F185fs|BFSP1_ENST00000377868.2_Frame_Shift_Del_p.F199fs NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 324 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 AGTTTCAATGAAGGCAGAGGT 0.498 2 4 --- --- --- --- XIST 7503 broad.mit.edu 37 X 73071846 73071846 + RNA DEL A A - TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f0a3f6-b8b0-4e33-80be-6e57f83ab0b1 5feea318-e0fe-4d13-815b-2505a0073b12 g.chrX:73071846delA ENST00000429829.1 - 0 742 NR_001564.2 ATGGGCGATGAAAAAAAAAAA 0.413 3 6 --- --- --- ---