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 PARP3 10039 broad.mit.edu 37 3 51978185 51978185 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:51978185C>A ENST00000417220.2 + 4 752 c.264C>A c.(262-264)ctC>ctA p.L88L PARP3_ENST00000431474.1_Silent_p.L88L|PARP3_ENST00000398755.3_Silent_p.L95L Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 88 DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding p.L95L(1) ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TCCAGCTGCTCCAAGACAGCA 0.567000 66 154 2.33925e-33 4.24254e-33 0.870114 1 0 VWC2L 402117 broad.mit.edu 37 2 215301400 215301400 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:215301400C>A ENST00000312504.5 + 3 1240 c.438C>A c.(436-438)caC>caA p.H146Q VWC2L_ENST00000427124.1_Intron|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 146 VWFC 2. extracellular region p.H146Q(1) breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 ATGAAGTTCACTGTGTTGTAG 0.453000 16 66 1.15088e-07 1.38522e-07 0.500413 1 0 MAP3K5 4217 broad.mit.edu 37 6 136913701 136913701 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:136913701C>A ENST00000359015.4 - 22 3290 c.2930G>T c.(2929-2931)aGc>aTc p.S977I MAP3K5_ENST00000355845.4_Missense_Mutation_p.S224I NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 977 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding p.S977I(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) ACTGCTGCTGCTGGTGTCCTC 0.478000 16 91 9.16793e-09 1.14134e-08 0.520397 1 0 ANK1 286 broad.mit.edu 37 8 41530361 41530361 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:41530361C>A ENST00000396942.1 - 38 4690 c.4607G>T c.(4606-4608)cGt>cTt p.R1536L ANK1_ENST00000289734.7_Missense_Mutation_p.R1536L|ANK1_ENST00000265709.8_Missense_Mutation_p.R1577L|ANK1_ENST00000347528.4_Missense_Mutation_p.R1536L|ANK1_ENST00000396945.1_Missense_Mutation_p.R1536L|ANK1_ENST00000352337.4_Missense_Mutation_p.R1536L|ANK1_ENST00000379758.2_Missense_Mutation_p.R1536L P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1536 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.R1536L(1)|p.R1577L(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTGGTCTGCACGTAGCGGAGA 0.612000 44 32 5.34276e-22 8.57851e-22 0.870114 1 0 SNHG12 85028 broad.mit.edu 37 1 28906908 28906908 + RNA SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:28906908G>A ENST00000488745.1 - 0 1100 SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384584.1_RNA TAGGAAAGCTGAGTGGCAGCT 0.458000 19 19 0 0 0.575678 0 0 NXPE3 91775 broad.mit.edu 37 3 101520220 101520220 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:101520220G>T ENST00000422132.1 + 2 432 c.235G>T c.(235-237)Gac>Tac p.D79Y NXPE3_ENST00000273347.5_Missense_Mutation_p.D79Y|NXPE3_ENST00000491511.1_Missense_Mutation_p.D79Y|NXPE3_ENST00000477909.1_Missense_Mutation_p.D79Y neurexophilin and PC-esterase domain family, member 3 p.D79Y(1) CATGGAGGAGGACTCCTTGCT 0.552000 65 129 4.20717e-43 8.0127e-43 0.870114 1 0 MYH7 4625 broad.mit.edu 37 14 23884924 23884924 + Missense_Mutation SNP C C A rs45464193 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:23884924C>A ENST00000355349.3 - 35 5233 c.5071G>T c.(5071-5073)Gtg>Ttg p.V1691L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1691 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.V1691L(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGCTCCACCACGGCACGCAAC 0.637000 12 67 4.3838e-07 5.1521e-07 0.435327 1 0 BEND2 139105 broad.mit.edu 37 X 18234842 18234842 + Missense_Mutation SNP T T C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:18234842T>C ENST00000380033.4 - 2 169 c.37A>G c.(37-39)Ata>Gta p.I13V BEND2_ENST00000380030.3_Missense_Mutation_p.I13V NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 13 p.I13V(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 TCGACAGTTATAATAACAAAA 0.318000 13 26 0 0 0.435327 0 0 ZNF827 152485 broad.mit.edu 37 4 146806894 146806894 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:146806894C>A ENST00000508784.1 - 4 1910 c.1683G>T c.(1681-1683)gcG>gcT p.A561A ZNF827_ENST00000513320.1_Silent_p.A211A|ZNF827_ENST00000379448.4_Silent_p.A561A Q17R98 ZN827_HUMAN zinc finger protein 827 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A561A(2) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) ACAATGCTGACGCACTGTTGG 0.502000 56 58 3.30226e-22 5.36701e-22 0.870114 1 0 CHAF1B 8208 broad.mit.edu 37 21 37775118 37775118 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr21:37775118C>T ENST00000314103.4 + 8 877 c.726C>T c.(724-726)ttC>ttT p.F242F NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 242 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding p.F242F(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 GACTGAGTTTCACTCCCGACG 0.453000 145 184 0 0 0.870114 0 0 NTRK3 4916 broad.mit.edu 37 15 88576096 88576096 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:88576096G>T ENST00000394480.1 - 14 1898 c.1577C>A c.(1576-1578)cCg>cAg p.P526Q NTRK3_ENST00000360948.2_Missense_Mutation_p.P526Q|NTRK3_ENST00000542733.2_Missense_Mutation_p.P428Q|NTRK3_ENST00000357724.2_Missense_Mutation_p.P518Q|NTRK3_ENST00000557856.1_Missense_Mutation_p.P518Q|NTRK3_ENST00000540489.2_Missense_Mutation_p.P526Q|NTRK3_ENST00000317501.3_Missense_Mutation_p.P526Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.P526Q|NTRK3_ENST00000558676.1_Missense_Mutation_p.P518Q|NTRK3_ENST00000558306.1_5'UTR NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 526 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.P526Q(3) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) ACACGTGTCCGGCTTGTGGCA 0.577000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 4 16 8.12818e-05 8.80094e-05 0.248553 1 0 INSL5 10022 broad.mit.edu 37 1 67263727 67263727 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:67263727C>A ENST00000304526.2 - 2 411 c.377G>T c.(376-378)tGt>tTt p.C126F NM_005478.4 NP_005469.2 Q9Y5Q6 INSL5_HUMAN insulin-like 5 126 extracellular region hormone activity p.C126F(1) breast(2)|endometrium(1)|lung(5) 8 AGTCATGGAACAGCCATCAGT 0.428000 10 87 4.68919e-08 5.69554e-08 0.361761 1 0 EPG5 57724 broad.mit.edu 37 18 43497741 43497741 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr18:43497741G>A ENST00000282041.5 - 17 3176 c.3142C>T c.(3142-3144)Ctg>Ttg p.L1048L NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1048 autophagy p.L1048L(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GACTGGACCAGAATTCCCAAT 0.413000 74 79 0 0 0.870114 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141294041 141294041 + Silent SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:141294041T>A ENST00000389328.4 - 14 2369 c.2355A>T c.(2353-2355)acA>acT p.T785T TRAPPC9_ENST00000438773.2_Silent_p.T687T|TRAPPC9_ENST00000389327.3_Silent_p.T678T NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 687 cell differentiation endoplasmic reticulum|Golgi apparatus p.T785T(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TGACTTCCACTGTGGAGCCAC 0.522000 87 63 0 0 0.870114 0 0 DACH2 117154 broad.mit.edu 37 X 85950086 85950086 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:85950086C>A ENST00000373131.1 + 4 959 c.796C>A c.(796-798)Caa>Aaa p.Q266K DACH2_ENST00000373125.4_Missense_Mutation_p.Q279K|DACH2_ENST00000510272.1_Missense_Mutation_p.Q60K|DACH2_ENST00000508860.1_Missense_Mutation_p.Q112K NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding p.Q279K(1)|p.Q266K(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 ACCTGGACCCCAACATGGAAT 0.468000 17 43 1.67942e-08 2.08425e-08 0.539581 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32893977 32893977 + RNA SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:32893977G>T ENST00000330048.5 - 0 1280 NR_003083.2 TCCAGGTGTGGCCACATGTGG 0.577000 36 112 4.3181e-19 6.69096e-19 0.769981 1 0 AOC4P 90586 broad.mit.edu 37 17 41019706 41019706 + RNA SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:41019706G>C ENST00000585538.1 + 0 545 NR_002773.1 AGCCCAACGTGAGTGAGCTGG 0.672000 4 17 0 0 0.248553 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46952048 46952048 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:46952048G>T ENST00000409879.2 - 3 1101 c.41C>A c.(40-42)cCt>cAt p.P14H KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P14H|KIAA0226L_ENST00000429979.1_5'UTR|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.P14H|KIAA0226L_ENST00000389908.3_Intron|KIAA0226L_ENST00000378797.2_5'UTR|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000378781.3_5'UTR Q9H714 CM018_HUMAN KIAA0226-like 0 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 TTCTCGAAGAGGCAGATTGAC 0.438000 5 11 5.9392e-07 6.94939e-07 0.217242 1 0 MXRA5 25878 broad.mit.edu 37 X 3240858 3240858 + Silent SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:3240858T>A ENST00000217939.6 - 5 3022 c.2868A>T c.(2866-2868)acA>acT p.T956T NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 956 extracellular region p.T956T(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ACTCACTGGATGTGGGCTCTG 0.507000 19 51 0 0 0.729181 0 0 CHD4 1108 broad.mit.edu 37 12 6707148 6707148 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:6707148C>A ENST00000309577.6 - 12 1967 c.1804G>T c.(1804-1806)Gac>Tac p.D602Y CHD4_ENST00000357008.2_Missense_Mutation_p.D602Y|CHD4_ENST00000544040.1_Missense_Mutation_p.D595Y|CHD4_ENST00000544484.1_Missense_Mutation_p.D599Y Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 602 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.D602Y(2) central_nervous_system(2) 2 AATTTAGGGTCCTTGTTCTTT 0.483000 172 249 9.51103e-86 1.88333e-85 0.870114 1 0 LINGO1 84894 broad.mit.edu 37 15 77907657 77907657 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:77907657G>A ENST00000355300.6 - 2 766 c.592C>T c.(592-594)Ctg>Ttg p.L198L LINGO1_ENST00000561030.1_Silent_p.L192L NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 198 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane p.L192L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 CATTTCTCCAGCGTCAGCTGC 0.607000 33 60 0 0 0.870114 0 0 COL27A1 85301 broad.mit.edu 37 9 117020842 117020842 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:117020842C>A ENST00000356083.3 + 28 3554 c.3163C>A c.(3163-3165)Cca>Aca p.P1055T NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1055 Collagen-like 7.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent p.P1055T(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 ATCTCGAGGCCCACCAGGCAT 0.622000 13 29 1.49906e-05 1.66377e-05 0.457914 1 0 AGAP2 116986 broad.mit.edu 37 12 58126629 58126629 + Splice_Site SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:58126629C>T ENST00000257897.3 - 6 760 c.676_splice c.e6+1 p.E225_splice AGAP2_ENST00000547588.1_Splice_Site_p.E561_splice NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 561 Interactions with HOMER1 and NF2 (By similarity). axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding p.E225E(1)|p.E225D(1)|p.E561D(1)|p.E561E(1) breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 TACACTCACCCTCCTGGAAGA 0.557000 67 385 0 0 0.870114 0 0 HOXB1 3211 broad.mit.edu 37 17 46608020 46608020 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:46608020C>A ENST00000239174.6 - 1 339 c.247G>T c.(247-249)Ggg>Tgg p.G83W HOXB1_ENST00000577092.1_Missense_Mutation_p.G83W NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 83 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity p.G83W(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGAGCATACCCCGAGGGCGCG 0.652000 14 76 7.93312e-07 9.2015e-07 0.457914 1 0 DNAH10 196385 broad.mit.edu 37 12 124293409 124293409 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:124293409T>A ENST00000409039.3 + 18 2724 c.2699T>A c.(2698-2700)cTg>cAg p.L900Q NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 900 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.L718Q(1)|p.L900Q(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GAAACCATTCTGACGGCACCT 0.458000 100 508 0 0 0.870114 0 0 ALOX12B 242 broad.mit.edu 37 17 7983194 7983194 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:7983194G>T ENST00000319144.4 - 7 1080 c.820C>A c.(820-822)Ccc>Acc p.P274T AC129492.6_ENST00000399413.3_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 274 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity p.P274T(1) endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 ATCAGGCCGGGGTTGACGCCG 0.652000 Multiple Myeloma(8;0.094) 5 17 5.9392e-07 6.94939e-07 0.217242 1 0 TUBB1 81027 broad.mit.edu 37 20 57599325 57599325 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:57599325C>A ENST00000217133.1 + 4 1112 c.843C>A c.(841-843)taC>taA p.Y281* NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 281 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity p.Y281*(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) GCCAGCAGTACCGAGCCCTCT 0.657000 11 22 0.00010058 0.00010861 0.411799 1 0 SHC1 6464 broad.mit.edu 37 1 154940998 154940998 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:154940998G>A ENST00000448116.2 - 4 943 c.723C>T c.(721-723)ctC>ctT p.L241L SHC1_ENST00000368453.4_Silent_p.L131L|SHC1_ENST00000368449.4_Silent_p.L12L|SHC1_ENST00000368445.5_Silent_p.L241L|SHC1_ENST00000606391.1_Silent_p.L42L|SHC1_ENST00000368450.1_Silent_p.L131L NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 241 PID. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity p.L241L(1)|p.L131L(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCATGAGGTTGAGGCTGCTGG 0.557000 131 346 0 0 0.870114 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835210 27835210 + Missense_Mutation SNP G G T rs141517982 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:27835210G>T ENST00000331442.3 - 1 149 c.98C>A c.(97-99)gCt>gAt p.A33D NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 33 nucleosome assembly nucleosome|nucleus DNA binding p.A33D(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 GCGCTTAGCAGCGCCGGCGCC 0.617000 10 119 7.93312e-07 9.2015e-07 0.457914 1 0 FAM43A 131583 broad.mit.edu 37 3 194407680 194407680 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:194407680G>T ENST00000329759.4 + 1 1059 c.125G>T c.(124-126)tGc>tTc p.C42F NM_153690.4 NP_710157.2 Q8N2R8 FA43A_HUMAN family with sequence similarity 43, member A 42 breast(2)|central_nervous_system(1)|lung(6)|skin(1) 10 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) GCGCGGGCGTGCCCCGAAGGC 0.677000 5 19 3.59834e-05 3.9552e-05 0.217242 1 0 CSMD1 64478 broad.mit.edu 37 8 3216805 3216805 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:3216805C>A ENST00000602557.1 - 22 3731 c.3176G>T c.(3175-3177)gGt>gTt p.G1059V CSMD1_ENST00000602723.1_Missense_Mutation_p.G1059V|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1059V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1058V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1059V|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1058V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1058V Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1059 Sushi 6. integral to membrane p.G787V(1)|p.G1058V(1) 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) AAAGTGAAAACCAATTCTTCG 0.522000 12 44 0.000219431 0.000235358 0.457914 1 0 CLSTN2 64084 broad.mit.edu 37 3 140282979 140282979 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:140282979C>T ENST00000458420.3 + 16 2849 c.2659C>T c.(2659-2661)Ccc>Tcc p.P887S NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 887 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.P887S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CACAGTCAACCCCATGGAGGT 0.592000 HNSCC(16;0.037) 27 81 0 0 0.693898 0 0 TTLL11 158135 broad.mit.edu 37 9 124751595 124751595 + Missense_Mutation SNP T T C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:124751595T>C ENST00000321582.5 - 4 1605 c.1418A>G c.(1417-1419)aAg>aGg p.K473R TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.K473R NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 473 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity p.K473R(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 CCAGACCTTCTTGATGTCAAC 0.522000 14 70 0 0 0.539581 0 0 PLCB4 5332 broad.mit.edu 37 20 9364988 9364988 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:9364988C>T ENST00000378501.2 + 11 1009 c.994C>T c.(994-996)Ctc>Ttc p.L332F PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.L332F|PLCB4_ENST00000334005.3_Missense_Mutation_p.L332F|PLCB4_ENST00000414679.2_Missense_Mutation_p.L332F|PLCB4_ENST00000278655.4_Missense_Mutation_p.L332F|PLCB4_ENST00000378493.1_Missense_Mutation_p.L332F NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 332 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.L332F(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TAACACTTATCTCACTGGCAG 0.458000 38 109 0 0 0.870114 0 0 RGS1 5996 broad.mit.edu 37 1 192544966 192544966 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:192544966C>T ENST00000367459.3 + 1 110 c.44C>T c.(43-45)cCa>cTa p.P15L RGS1_ENST00000469578.2_Missense_Mutation_p.P15L NM_002922.3 NP_002913.3 Q08116 RGS1_HUMAN regulator of G-protein signaling 1 15 immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity p.P15L(1)|p.P2L(1) kidney(8)|large_intestine(1)|lung(13) 22 Breast(1374;0.188) GACAAAATGCCAGGAATGTTC 0.428000 17 77 0 0 0.520397 0 0 GPNMB 10457 broad.mit.edu 37 7 23313759 23313759 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:23313759C>T ENST00000258733.4 + 11 1894 c.1599C>T c.(1597-1599)ctC>ctT p.L533L GPNMB_ENST00000381990.2_Silent_p.L545L|GPNMB_ENST00000453162.2_Silent_p.L487L|GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000539136.1_Silent_p.L434L Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 545 negative regulation of cell proliferation melanosome p.L545L(1) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) GTGTCTTTCTCAACCGTGCAA 0.408000 49 108 0 0 0.870114 0 0 FAM35A 54537 broad.mit.edu 37 10 88911171 88911171 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:88911171C>T ENST00000298786.4 + 3 174 c.60C>T c.(58-60)atC>atT p.I20I FAM35A_ENST00000298784.1_Silent_p.I20I Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 20 p.I20I(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 CACTGAAAATCACAGTATCAG 0.343000 13 101 0 0 0.500413 0 0 MYEF2 50804 broad.mit.edu 37 15 48444134 48444134 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:48444134C>A ENST00000324324.7 - 12 1423 c.1144G>T c.(1144-1146)Ggg>Tgg p.G382W MYEF2_ENST00000267836.6_Missense_Mutation_p.G382W NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 382 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding p.G382W(1) endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) CCACCAAACCCTATTCCTATG 0.408000 14 129 4.14922e-12 5.70875e-12 0.500413 1 0 GOLGA3 2802 broad.mit.edu 37 12 133357453 133357453 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:133357453C>T ENST00000204726.3 - 18 4071 c.3513G>A c.(3511-3513)aaG>aaA p.K1171K GOLGA3_ENST00000456883.2_Silent_p.K1171K|GOLGA3_ENST00000450791.2_Silent_p.K1171K NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1171 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity p.K1171K(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GGACAAGATGCTTCATCTGGC 0.537000 14 112 0 0 0.457914 0 0 CHGB 1114 broad.mit.edu 37 20 5903918 5903918 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:5903918G>C ENST00000378961.4 + 4 1332 c.1128G>C c.(1126-1128)caG>caC p.Q376H NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 376 extracellular region hormone activity p.Q376H(1) breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CAAGACCTCAGAGTGAGGAGA 0.517000 23 186 0 0 0.624587 0 0 LOC349160 349160 broad.mit.edu 37 7 136848928 136848928 + RNA SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:136848928C>A ENST00000439694.1 - 0 164 AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000599888.1_RNA CACATTCAACCAGGTTGTGCT 0.507000 8 66 0.0581538 0.0595722 0.335167 1 0 LHFPL5 222662 broad.mit.edu 37 6 35773736 35773736 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:35773736G>T ENST00000360215.1 + 1 666 c.289G>T c.(289-291)Gcc>Tcc p.A97S LHFPL5_ENST00000373853.1_Missense_Mutation_p.A97S NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 97 integral to membrane p.A97F(1) endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 CTTCAAGACTGCCATGTTCTT 0.537000 81 91 6.38486e-60 1.24575e-59 0.870114 1 0 COL12A1 1303 broad.mit.edu 37 6 75875472 75875472 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:75875472C>A ENST00000322507.8 - 14 3043 c.2734G>T c.(2734-2736)Gtt>Ttt p.V912F COL12A1_ENST00000483888.2_Missense_Mutation_p.V912F|COL12A1_ENST00000416123.2_Missense_Mutation_p.V912F|COL12A1_ENST00000345356.6_Intron NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 912 Fibronectin type-III 6. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.V912F(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TCTTTAGTAACTAAATCTTGA 0.363000 23 150 2.98393e-07 3.554e-07 0.639603 1 0 C8orf34 116328 broad.mit.edu 37 8 69445253 69445253 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:69445253A>T ENST00000337103.4 + 6 2233 c.641A>T c.(640-642)cAg>cTg p.Q214L C8orf34_ENST00000518698.1_Missense_Mutation_p.Q325L|C8orf34_ENST00000539993.1_Missense_Mutation_p.Q239L|C8orf34_ENST00000348340.2_Missense_Mutation_p.Q239L Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 239 signal transduction cAMP-dependent protein kinase regulator activity p.Q239L(1)|p.Q214L(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GGATTAAAACAGCAGCAACAG 0.358000 56 83 0 0 0.870114 0 0 TAAR9 134860 broad.mit.edu 37 6 132860409 132860409 + RNA SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:132860409C>A ENST00000434551.1 + 0 981 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) TTATTGTAAGCGGCAAGGTCT 0.328000 5 60 0.000602214 0.000637357 0.184627 1 0 SMARCAL1 50485 broad.mit.edu 37 2 217340026 217340026 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:217340026C>T ENST00000357276.4 + 15 2609 c.2279C>T c.(2278-2280)tCa>tTa p.S760L SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S760L NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 760 Helicase C-terminal. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity p.S760L(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GGCTCCACCTCATCAGCTGAG 0.622000 Schimke Immuno-Osseous Dysplasia 20 80 0 0 0.592651 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764549 140764549 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:140764549G>T ENST00000518325.1 + 1 2083 c.2083G>T c.(2083-2085)Gtg>Ttg p.V695L PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018920.2 NP_061743.1 p.V695L(1) NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCTGGTGGTGGCGGTGGC 0.637000 3 28 1.23904e-05 1.37902e-05 0.184627 1 0 PKHD1 5314 broad.mit.edu 37 6 51612663 51612663 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:51612663C>A ENST00000371117.3 - 58 10026 c.9751G>T c.(9751-9753)Gaa>Taa p.E3251* PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E3251* NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3251 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.E3251*(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TGATTTGGTTCTGAGGTGAAT 0.438000 75 100 1.75807e-36 3.23258e-36 0.870114 1 0 NOTCH4 4855 broad.mit.edu 37 6 32170317 32170317 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:32170317G>T ENST00000375023.3 - 21 3429 c.3291C>A c.(3289-3291)caC>caA p.H1097Q NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1097 EGF-like 28. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.H1097Q(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGCCTCCGTGGTGGCAGTGAT 0.632000 11 5 1.01871e-10 1.33268e-10 0.575678 1 0 IGF2BP1 10642 broad.mit.edu 37 17 47123622 47123622 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:47123622G>T ENST00000290341.3 + 14 1862 c.1527_splice c.e14-1 p.V510_splice IGF2BP1_ENST00000431824.2_Splice_Site_p.V371_splice NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 510 KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.V510L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CCACCCCCAGGTGAACGAGTT 0.557000 5 72 0.000157383 0.000169033 0.278610 1 0 TRAF3IP1 26146 broad.mit.edu 37 2 239234561 239234561 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:239234561G>A ENST00000373327.4 + 3 526 c.304G>A c.(304-306)Gaa>Aaa p.E102K TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.E102K|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.E102K NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 102 Abolishes microtubules-binding when missing. cytoplasm|cytoskeleton protein binding p.E102K(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) GCATGAGCCTGAAAGAACAAA 0.458000 12 28 0 0 0.457914 0 0 PNLIP 5406 broad.mit.edu 37 10 118313347 118313347 + Missense_Mutation SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:118313347A>G ENST00000369221.2 + 6 596 c.568A>G c.(568-570)Aca>Gca p.T190A NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 190 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity p.T190A(2) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGGACGCATCACAGGTTGGTG 0.552000 34 36 0 0 0.769981 0 0 CACNA1C 775 broad.mit.edu 37 12 2760919 2760919 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:2760919C>A ENST00000399655.1 + 32 4324 c.4059C>A c.(4057-4059)ttC>ttA p.F1353L CACNA1C_ENST00000406454.3_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.F1340L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.F1342L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.F1381L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.F1375L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.F1373L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.F1342L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.F1370L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.F1353L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.F1401L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.F1378L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.F1353L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1401 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.F1375L(1)|p.F1431L(1)|p.F1401L(1)|p.F1353L(1)|p.F888L(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGTGGACCTTCATCAAGTCCT 0.647000 11 13 0.00136819 0.00143283 0.411799 1 0 DAB1 1600 broad.mit.edu 37 1 57480786 57480786 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:57480786T>A ENST00000371236.2 - 12 1477 c.1214A>T c.(1213-1215)aAg>aTg p.K405M DAB1_ENST00000371234.4_Missense_Mutation_p.K405M|DAB1_ENST00000371231.1_Missense_Mutation_p.K438M|DAB1_ENST00000420954.2_Missense_Mutation_p.K403M|DAB1_ENST00000414851.2_Missense_Mutation_p.K387M|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.K319M O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 438 cell differentiation|nervous system development p.K405M(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTGCCTGGGCTTGTCGGTCTG 0.607000 11 101 0 0 0.361761 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18194960 18194960 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:18194960G>C ENST00000314254.3 + 1 577 c.157G>C c.(157-159)Ggc>Cgc p.G53R RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 53 integral to membrane|plasma membrane G-protein coupled receptor activity p.G53R(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CTGGCTCCTGGGCTACCGCAT 0.552000 67 92 0 0 0.870114 0 0 BAI3 577 broad.mit.edu 37 6 69646450 69646450 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:69646450G>A ENST00000370598.1 + 5 1729 c.908G>A c.(907-909)tGt>tAt p.C303Y NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 303 TSP type-1 1. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.C303Y(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGGAGCACATGTTCGGTTACT 0.468000 6 48 0 0 0.248553 0 0 TJP1 7082 broad.mit.edu 37 15 30020222 30020222 + Splice_Site SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:30020222C>A ENST00000346128.6 - 16 2493 c.2017_splice c.e16-1 p.K673_splice TJP1_ENST00000545208.2_Splice_Site_p.K673_splice|TJP1_ENST00000400011.2_Splice_Site_p.K677_splice|TJP1_ENST00000356107.6_Splice_Site_p.K673_splice NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 673 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction p.K673N(1) breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GTGGTTCACTCTCTATTCATT 0.398000 36 67 1.62957e-23 2.69792e-23 0.840704 1 0 OR5M10 390167 broad.mit.edu 37 11 56344905 56344905 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:56344905A>T ENST00000526812.2 - 1 358 c.293T>A c.(292-294)tTc>tAc p.F98Y NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F98Y(1) central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 ACACTGTGTGAAGCATCCAGC 0.438000 20 106 0 0 0.608945 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635158 122635158 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:122635158C>A ENST00000249284.2 - 1 596 c.531G>T c.(529-531)caG>caT p.Q177H NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 177 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding p.Q177H(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GAGCCTGGAACTGATACTGAT 0.408000 65 124 5.10652e-33 9.17794e-33 0.870114 1 0 TTN 7273 broad.mit.edu 37 2 179435906 179435906 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:179435906C>A ENST00000589042.1 - 326 75177 c.74953G>T c.(74953-74955)Gca>Tca p.A24985S TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A22417S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A15920S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A16045S|TTN_ENST00000342175.6_Missense_Mutation_p.A16112S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A23344S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23344 Ig-like 123. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A15920S(1)|p.A16045S(1)|p.A16112S(1)|p.A22417S(1)|p.A22415S(1) 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) ATGTTCTCTGCAGAGACTCTA 0.443000 24 130 4.47668e-21 7.10217e-21 0.667858 1 0 SPAG6 9576 broad.mit.edu 37 10 22700045 22700045 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:22700045G>T ENST00000376603.2 + 10 1770 c.1628G>T c.(1627-1629)gGt>gTt p.G543V SPAG6_ENST00000538630.1_Missense_Mutation_p.G442V|SPAG6_ENST00000376601.1_Missense_Mutation_p.G228V|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376624.3_Missense_Mutation_p.G467V|SPAG6_ENST00000313311.6_Intron O75602 SPAG6_HUMAN sperm associated antigen 6 467 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding p.G467I(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 GCAGAACCTGGTTCTCTCCTT 0.408000 24 78 6.21321e-17 9.30233e-17 0.639603 1 0 ABCG4 64137 broad.mit.edu 37 11 119020801 119020801 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:119020801C>A ENST00000307417.3 + 2 490 c.126C>A c.(124-126)aaC>aaA p.N42K ABCG4_ENST00000531739.1_Missense_Mutation_p.N42K|ABCG4_ENST00000449422.2_Missense_Mutation_p.N42K NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 42 cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity p.N42K(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) AGGTGGAGAACCACATCACTG 0.657000 21 54 6.33239e-15 9.13787e-15 0.592651 1 0 PAPPA2 60676 broad.mit.edu 37 1 176563851 176563851 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:176563851T>A ENST00000367662.3 + 3 2275 c.1111T>A c.(1111-1113)Tac>Aac p.Y371N PAPPA2_ENST00000367661.3_Missense_Mutation_p.Y371N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 371 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.Y371N(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGCAGCCACTTACGATGGACG 0.572000 19 59 0 0 0.740014 0 0 IGKV3D-11 28876 broad.mit.edu 37 2 90212229 90212229 + RNA SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:90212229C>A ENST00000390277.2 + 0 418 CAGTTTATTACTGTCAGCAGC 0.498000 8 85 3.09899e-07 3.67458e-07 0.307466 1 0 BDP1 55814 broad.mit.edu 37 5 70800487 70800487 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:70800487G>C ENST00000358731.4 + 16 2544 c.2281G>C c.(2281-2283)Gaa>Caa p.E761Q BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 761 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding p.E761Q(1) NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TAAAGATTTTGAAGAGGAAGA 0.348000 20 94 0 0 0.575678 0 0 LPAR4 2846 broad.mit.edu 37 X 78010479 78010479 + Missense_Mutation SNP A A C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:78010479A>C ENST00000435339.2 + 2 518 c.113A>C c.(112-114)aAg>aCg p.K38T RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Missense_Mutation_p.K38T NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 38 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled p.K38T(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 GATTCCTTCAAGTATAATCTC 0.398000 74 303 0 0 0.870114 0 0 CYP11B1 1584 broad.mit.edu 37 8 143960518 143960518 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:143960518G>A ENST00000292427.4 - 2 357 c.325C>T c.(325-327)Cac>Tac p.H109Y CYP11B1_ENST00000377675.3_Missense_Mutation_p.H154Y|CYP11B1_ENST00000517471.1_Missense_Mutation_p.H109Y NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 109 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity p.H109N(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CTCATCCTGTGGGGATGCAGG 0.612000 Familial Hyperaldosteronism type I 4 44 0 0 0.750413 0 0 CHD5 26038 broad.mit.edu 37 1 6206463 6206463 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:6206463C>A ENST00000262450.3 - 11 1710 c.1611G>T c.(1609-1611)gtG>gtT p.V537V CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 537 Chromo 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding p.V537V(1) breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TGCGATACATCACCGTGTGGT 0.567000 29 30 3.73988e-18 5.71729e-18 0.706142 1 0 TEX37 200523 broad.mit.edu 37 2 88828700 88828700 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:88828700C>A ENST00000303254.3 + 4 393 c.251C>A c.(250-252)cCc>cAc p.P84H NM_152670.2 NP_689883.1 testis expressed 37 p.P84H(1) CTGGGACTCCCCGGCTTCTTC 0.547000 18 127 7.45023e-12 1.0111e-11 0.592651 1 0 ZNF701 55762 broad.mit.edu 37 19 53085491 53085491 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:53085491C>T ENST00000540331.1 + 5 602 c.377C>T c.(376-378)tCa>tTa p.S126L CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.S60L|ZNF701_ENST00000301093.2_Missense_Mutation_p.S126L NM_001172655.1 NP_001166126.1 Q9NV72 ZN701_HUMAN zinc finger protein 701 60 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S60L(1) endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) ATGTTCTCATCAACAGGACAA 0.363000 21 95 0 0 0.592651 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431719 56431719 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:56431719C>A ENST00000302969.2 + 1 582 c.558C>A c.(556-558)gcC>gcA p.A186A NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A186A(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 CACTCTTGGCCCTCTCTTGCT 0.458000 62 161 2.50483e-33 4.53254e-33 0.870114 1 0 C10orf76 79591 broad.mit.edu 37 10 103783277 103783277 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:103783277G>C ENST00000370033.4 - 8 745 c.626C>G c.(625-627)gCt>gGt p.A209G NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 209 integral to membrane p.A209G(1) autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) GAGGACGACAGCATCATACCC 0.453000 44 91 0 0 0.870114 0 0 MSLN 10232 broad.mit.edu 37 16 816888 816888 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:816888G>T ENST00000566549.1 + 14 1794 c.1377G>T c.(1375-1377)gcG>gcT p.A459A MSLN_ENST00000382862.3_Silent_p.A467A|MSLN_ENST00000545450.2_Silent_p.A459A|MSLN_ENST00000563941.1_Silent_p.A459A Q13421 MSLN_HUMAN mesothelin 467 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane p.A467A(2) breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) TCCCCAGGGCGGTCAGGCCCC 0.647000 12 73 1.3612e-06 1.56294e-06 0.479597 1 0 DOCK10 55619 broad.mit.edu 37 2 225695309 225695309 + Silent SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:225695309T>A ENST00000409592.3 - 27 3080 c.2967A>T c.(2965-2967)gcA>gcT p.A989A DOCK10_ENST00000258390.7_Silent_p.A995A Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 995 GTP binding p.A993A(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTAGGATAATTGCAAAGAAGA 0.279000 4 11 0 0 0.184627 0 0 DNAH11 8701 broad.mit.edu 37 7 21603895 21603895 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:21603895C>A ENST00000328843.6 + 6 1105 c.1074C>A c.(1072-1074)cgC>cgA p.R358R DNAH11_ENST00000409508.3_Silent_p.R358R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 358 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R358R(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CACAGACACGCATATTAATCG 0.443000 Kartagener syndrome 31 69 2.08457e-15 3.05227e-15 0.750413 1 0 DSCAM 1826 broad.mit.edu 37 21 41667981 41667981 + Splice_Site SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr21:41667981C>A ENST00000400454.1 - 10 2660 c.e10+1 NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.?(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TAACTCCATACCTTTAGAGAA 0.418000 36 63 2.05212e-20 3.21727e-20 0.812448 1 0 MAP2K1 5604 broad.mit.edu 37 15 66727454 66727454 + Missense_Mutation SNP A A C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:66727454A>C ENST00000307102.5 + 2 701 c.170A>C c.(169-171)aAg>aCg p.K57T NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 57 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K57T(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 CTTACCCAGAAGCAGAAGGTG 0.542000 95 167 0 0 0.870114 0 0 DZIP3 9666 broad.mit.edu 37 3 108407548 108407548 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:108407548C>A ENST00000361582.3 + 30 3609 c.3379C>A c.(3379-3381)Cag>Aag p.Q1127K DZIP3_ENST00000463306.1_Missense_Mutation_p.Q1127K NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 1127 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding p.Q1127K(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 ACTCACTTCACAGGGTCCTGC 0.438000 4 16 0.00198382 0.00207482 0.248553 1 0 CMTR2 55783 broad.mit.edu 37 16 71318668 71318668 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:71318668C>A ENST00000338099.5 - 3 1492 c.1156G>T c.(1156-1158)Gga>Tga p.G386* FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.G386* Q8IYT2 FTSJ1_HUMAN 386 integral to membrane methyltransferase activity|nucleic acid binding p.G386*(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCCGCCTTTCCCATGCACTCA 0.323000 31 46 4.31634e-10 5.59162e-10 0.760397 1 0 SP4 6671 broad.mit.edu 37 7 21521652 21521652 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:21521652G>T ENST00000222584.3 + 5 2236 c.2018G>T c.(2017-2019)gGa>gTa p.G673V NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 673 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding p.G673V(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 TGGCATACTGGAGAAAGACCT 0.403000 64 118 3.7469e-33 6.74949e-33 0.870114 1 0 PRSS3 5646 broad.mit.edu 37 9 33797891 33797891 + Missense_Mutation SNP A A C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:33797891A>C ENST00000361005.5 + 3 436 c.436A>C c.(436-438)Aat>Cat p.N146H RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.N103H|PRSS3_ENST00000429677.3_Missense_Mutation_p.N82H|PRSS3_ENST00000379405.3_Missense_Mutation_p.N89H NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 146 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity p.N89H(1)|p.N146H(1) large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) GCAGTTCATCAATGCGGCCAA 0.542000 20 110 0 0 0.575678 0 0 MUC16 94025 broad.mit.edu 37 19 9077693 9077693 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:9077693G>T ENST00000397910.4 - 3 9956 c.9753C>A c.(9751-9753)gcC>gcA p.A3251A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3252 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A3251A(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CACTTCCTAGGGCTGTGGACT 0.517000 44 157 2.93687e-30 5.19651e-30 0.870114 1 0 PIEZO2 63895 broad.mit.edu 37 18 10696195 10696195 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr18:10696195G>C ENST00000302079.6 - 43 6727 c.6728C>G c.(6727-6729)aCc>aGc p.T2243S PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2268S|PIEZO2_ENST00000538948.1_Missense_Mutation_p.T200S|PIEZO2_ENST00000285141.4_Missense_Mutation_p.T98S|PIEZO2_ENST00000503781.3_Missense_Mutation_p.T2243S Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2243 integral to membrane ion channel activity p.T2243S(1)|p.T98S(1) CACCACCATGGTTCCAAACTG 0.522000 13 59 0 0 0.457914 0 0 RABL3 285282 broad.mit.edu 37 3 120449566 120449566 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:120449566C>A ENST00000273375.3 - 2 144 c.115G>T c.(115-117)Gtg>Ttg p.V39L RABL3_ENST00000483733.1_Missense_Mutation_p.V39L|RABL3_ENST00000491398.1_5'UTR NM_173825.3 NP_776186.2 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 39 Small GTPase-like. small GTPase mediated signal transduction GTP binding p.V39L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) GAGCAGCCCACAGTCCATGAT 0.363000 44 120 3.68337e-26 6.28062e-26 0.870114 1 0 IQSEC2 23096 broad.mit.edu 37 X 53280025 53280025 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:53280025C>A ENST00000396435.3 - 5 1933 c.1733G>T c.(1732-1734)tGc>tTc p.C578F IQSEC2_ENST00000375365.2_Missense_Mutation_p.C373F|IQSEC2_ENST00000375368.5_Missense_Mutation_p.C568F NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 568 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity p.C578F(1)|p.C575F(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 GCACTCCAAGCACCCGGGACC 0.652000 8 6 3.86212e-05 4.22188e-05 0.361761 1 0 OR4K5 79317 broad.mit.edu 37 14 20389218 20389218 + Silent SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:20389218G>C ENST00000315915.4 + 1 478 c.453G>C c.(451-453)gtG>gtC p.V151V NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V151V(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTGGGCTGTGAGCTTGGTGC 0.443000 115 819 0 0 0.870114 0 0 DOCK8 81704 broad.mit.edu 37 9 286497 286497 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:286497G>C ENST00000453981.1 + 3 305 c.193G>C c.(193-195)Gaa>Caa p.E65Q DOCK8_ENST00000432829.2_5'UTR|DOCK8_ENST00000469391.1_5'UTR Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 65 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.E65Q(1) breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGTGGACTTTGAAGGACTTCT 0.527000 14 60 0 0 0.457914 0 0 TRIP11 9321 broad.mit.edu 37 14 92484063 92484063 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:92484063T>A ENST00000267622.4 - 5 993 c.620A>T c.(619-621)gAt>gTt p.D207V NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 207 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity p.D207V(1) breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTCACTTTGATCAGAGTTATC 0.289000 T PDGFRB AML 18 44 0 0 0.557998 0 0 PPIG 9360 broad.mit.edu 37 2 170493101 170493101 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:170493101G>T ENST00000260970.3 + 14 1553 c.1333G>T c.(1333-1335)Gat>Tat p.D445Y PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.D430Y|PPIG_ENST00000448752.2_Missense_Mutation_p.D445Y NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 445 D -> E (in dbSNP:rs1050354). protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity p.D445Y(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) TTCAGAAAAAGATGACAAGTA 0.313000 8 23 0.307466 0.309405 0.307466 1 0 RPE65 6121 broad.mit.edu 37 1 68903886 68903886 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:68903886G>T ENST00000262340.5 - 10 1165 c.1112C>A c.(1111-1113)cCt>cAt p.P371H NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 371 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity p.P371H(1) central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 AATATTCAAAGGAAGTACATA 0.373000 13 118 1.36491e-13 1.92099e-13 0.435327 1 0 DCHS1 8642 broad.mit.edu 37 11 6662213 6662213 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:6662213C>A ENST00000299441.3 - 2 1043 c.632G>T c.(631-633)gGg>gTg p.G211V NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 211 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G211V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCCAGTTCCCCAGTAACTAC 0.617000 32 139 2.08457e-15 3.05227e-15 0.750413 1 0 OR6Y1 391112 broad.mit.edu 37 1 158517680 158517680 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:158517680G>T ENST00000302617.3 - 1 215 c.216C>A c.(214-216)tcC>tcA p.S72S NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S72S(1) NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) TCTCCAGGAAGGAGAGGTGGC 0.473000 39 116 9.45814e-24 1.56915e-23 0.804634 1 0 ADRBK1 156 broad.mit.edu 37 11 67051244 67051244 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:67051244G>T ENST00000308595.5 + 16 1685 c.1395_splice c.e16+1 p.K465_splice ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 465 AGC-kinase C-terminal. K -> R (in Ref. 1; CAA43470). activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity p.R465S(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) TCTTGCAGAAGGTAACAGTCT 0.632000 13 52 4.7546e-09 5.95632e-09 0.500413 1 0 FBXO31 79791 broad.mit.edu 37 16 87367539 87367539 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:87367539C>A ENST00000568879.1 - 1 340 c.341G>T c.(340-342)tGg>tTg p.W114L FBXO31_ENST00000311635.7_Silent_p.V450V p.V450V(1)|p.V278V(1) AGCTCACGCCCACGGGCAGCA 0.667000 16 33 0.000958276 0.00101151 0.557998 1 0 TRIO 7204 broad.mit.edu 37 5 14369489 14369489 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:14369489A>T ENST00000344204.4 + 18 3097 c.3073A>T c.(3073-3075)Agc>Tgc p.S1025C TRIO_ENST00000537187.1_Missense_Mutation_p.S1025C|TRIO_ENST00000509967.2_Missense_Mutation_p.S976C NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1025 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.S1025C(1) NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ACAGGTCTGCAGCGTCCTCGA 0.582000 6 78 0 0 0.248553 0 0 TIMD4 91937 broad.mit.edu 37 5 156381592 156381592 + Silent SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:156381592T>A ENST00000274532.2 - 2 290 c.234A>T c.(232-234)tcA>tcT p.S78S TIMD4_ENST00000407087.3_Silent_p.S78S NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 78 Ig-like V-type. integral to membrane p.S78S(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGACTTTCTTGAGGTCACCC 0.527000 16 87 0 0 0.500413 0 0 ZNF536 9745 broad.mit.edu 37 19 31039771 31039771 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:31039771G>T ENST00000355537.3 + 4 3392 c.3245G>T c.(3244-3246)gGt>gTt p.G1082V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1082 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.G1082V(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ATGGCCCAAGGTCAGCTCAAG 0.517000 59 50 2.53126e-37 4.69755e-37 0.870114 1 0 HS3ST3A1 9955 broad.mit.edu 37 17 13399534 13399534 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:13399534C>T ENST00000284110.1 - 2 1998 c.1201G>A c.(1201-1203)Gac>Aac p.D401N HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.D199N NM_006042.1 NP_006033.1 Q9Y663 HS3SA_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 401 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity p.D401N(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CAGCCAAAGTCGTGCCCGGTC 0.433000 9 55 0 0 0.411799 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803511 185803511 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:185803511C>A ENST00000302277.6 + 4 3982 c.3388C>A c.(3388-3390)Cag>Aag p.Q1130K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1130 intracellular zinc ion binding p.Q1130K(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GCCACACCAACAGTTTCTTTC 0.537000 19 83 6.94344e-10 8.89385e-10 0.539581 1 0 GJB5 2709 broad.mit.edu 37 1 35223275 35223275 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:35223275G>T ENST00000338513.1 + 2 517 c.344G>T c.(343-345)cGc>cTc p.R115L NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 115 cell communication|epidermis development connexon complex|integral to membrane p.R115L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) AACAGTGGGCGCCTCTACCTG 0.602000 63 132 1.61742e-36 2.98773e-36 0.870114 1 0 PPP2R2B 5521 broad.mit.edu 37 5 146070760 146070760 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:146070760C>T ENST00000394413.3 - 4 948 c.378G>A c.(376-378)agG>agA p.R126R PPP2R2B_ENST00000356826.3_Silent_p.R126R|PPP2R2B_ENST00000394410.2_Silent_p.R115R|PPP2R2B_ENST00000504198.1_Silent_p.R132R|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Silent_p.R115R|PPP2R2B_ENST00000336640.6_Silent_p.R129R|PPP2R2B_ENST00000453001.1_Silent_p.R126R|PPP2R2B_ENST00000394411.4_Silent_p.R126R|PPP2R2B_ENST00000394414.1_Silent_p.R192R|PPP2R2B_ENST00000394409.3_Silent_p.R184R Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 126 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.R184R(1)|p.R129R(1)|p.R115R(1)|p.R126R(1) endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCCTTCTGGCCTCTTATCAC 0.517000 20 65 0 0 0.592651 0 0 NUDT13 25961 broad.mit.edu 37 10 74882005 74882005 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:74882005C>G ENST00000357321.4 + 4 414 c.296C>G c.(295-297)tCt>tGt p.S99C NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000349051.5_Missense_Mutation_p.S99C|NUDT13_ENST00000372997.3_Missense_Mutation_p.S99C|NUDT13_ENST00000488223.1_3'UTR NM_015901.4 NP_056985.3 Q86X67 NUD13_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 13 99 hydrolase activity|metal ion binding p.S99C(1) large_intestine(2)|lung(5) 7 Prostate(51;0.0119) ATTGGATGCTCTGAGCAGCAG 0.453000 46 178 0 0 0.870114 0 0 TTF2 8458 broad.mit.edu 37 1 117626717 117626717 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:117626717G>T ENST00000369466.3 + 11 2025 c.1981G>T c.(1981-1983)Gag>Tag p.E661* NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 661 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding p.E661*(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) AAATGAGGTGGAGAAACGGGT 0.463000 23 106 1.37878e-21 2.20937e-21 0.654019 1 0 SLC2A9 56606 broad.mit.edu 37 4 9982270 9982270 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:9982270G>C ENST00000506583.1 - 7 757 c.540C>G c.(538-540)atC>atG p.I180M SLC2A9_ENST00000309065.3_Missense_Mutation_p.I180M|SLC2A9_ENST00000264784.3_Missense_Mutation_p.I209M Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 209 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity p.I180M(1)|p.I209M(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CGCCAATGCAGATAAAGATGG 0.577000 17 47 0 0 0.500413 0 0 OR4K1 79544 broad.mit.edu 37 14 20404218 20404218 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:20404218C>A ENST00000285600.4 + 1 452 c.393C>A c.(391-393)caC>caA p.H131Q NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H131Q(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) AGCCTCTGCACTACAGTACAA 0.443000 50 329 1.78197e-24 2.9687e-24 0.870114 1 0 LYNX1 66004 broad.mit.edu 37 8 143856771 143856771 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:143856771G>A ENST00000398906.1 - 4 549 c.165C>T c.(163-165)ccC>ccT p.P55P LYNX1_ENST00000523332.1_Silent_p.P55P|LYNX1_ENST00000335822.5_Intron|LYNX1_ENST00000395192.2_Silent_p.P55P|LYNX1_ENST00000345173.6_Silent_p.P55P NM_177477.2 NP_803430.1 Q86SR0 SLUR2_HUMAN Ly6/neurotoxin 1 59 UPAR/Ly6. extracellular region p.P55P(1) endometrium(1)|lung(2)|skin(1) 4 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCATCCTGGTGGGGGTGTAGT 0.647000 5 56 0 0 0.217242 0 0 UGT1A1 54658 broad.mit.edu 37 2 234676909 234676909 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:234676909T>A ENST00000360418.3 + 4 1128 c.1128T>A c.(1126-1128)caT>caA p.H376Q UGT1A5_ENST00000373414.3_Missense_Mutation_p.H377Q|UGT1A10_ENST00000344644.5_Missense_Mutation_p.H373Q|UGT1A8_ENST00000373450.4_Missense_Mutation_p.H373Q|UGT1A6_ENST00000305139.6_Missense_Mutation_p.H375Q|UGT1A7_ENST00000373426.3_Missense_Mutation_p.H373Q|UGT1A10_ENST00000373445.1_Missense_Mutation_p.H373Q|UGT1A9_ENST00000354728.4_Missense_Mutation_p.H373Q|UGT1A6_ENST00000406651.1_Missense_Mutation_p.H108Q|UGT1A4_ENST00000373409.3_Missense_Mutation_p.H377Q|UGT1A3_ENST00000482026.1_Missense_Mutation_p.H377Q|UGT1A6_ENST00000373424.1_Missense_Mutation_p.H108Q|UGT1A1_ENST00000305208.5_Missense_Mutation_p.H376Q P22309 UD11_HUMAN 376 H -> R (in CN1 and CN2). bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding p.H373Q(4)|p.H377Q(3)|p.H375Q(1)|p.H376Q(1) breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CTGGTTCCCATGGTGTTTATG 0.493000 24 120 0 0 0.681144 0 0 MAP2 4133 broad.mit.edu 37 2 210558138 210558138 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:210558138T>A ENST00000360351.4 + 7 1750 c.1244T>A c.(1243-1245)aTa>aAa p.I415K MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I411K|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 415 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity p.I415K(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AAGGAGGCCATAAATCAAGAG 0.443000 14 72 0 0 0.500413 0 0 JAK1 3716 broad.mit.edu 37 1 65332725 65332725 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:65332725C>A ENST00000342505.4 - 7 1062 c.814G>T c.(814-816)Gct>Tct p.A272S NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 272 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.A272S(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCCAAGGTAGCCAAGTATTTC 0.373000 Mis ALL 45 270 3.54909e-21 5.64178e-21 0.859065 1 0 NADSYN1 55191 broad.mit.edu 37 11 71208569 71208569 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:71208569G>T ENST00000319023.2 + 19 1993 c.1805G>T c.(1804-1806)gGg>gTg p.G602V NADSYN1_ENST00000530055.1_Missense_Mutation_p.G231V|NADSYN1_ENST00000539574.1_Missense_Mutation_p.G342V NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 602 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding p.G602V(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCGGTCTATGGGAAACTCAGG 0.532000 11 62 6.40141e-05 6.94066e-05 0.387290 1 0 CST4 1472 broad.mit.edu 37 20 23669590 23669590 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:23669590C>G ENST00000217423.3 - 1 87 c.17G>C c.(16-18)tGt>tCt p.C6S NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 6 extracellular region cysteine-type endopeptidase inhibitor activity p.C6S(1) breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) TAGCAGGGTACACAGAGGCCG 0.617000 9 50 0 0 0.479597 0 0 ACP1 52 broad.mit.edu 37 2 272282 272282 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:272282C>T ENST00000272067.6 + 3 304 c.208C>T c.(208-210)Cac>Tac p.H70Y ACP1_ENST00000439645.2_Missense_Mutation_p.H70Y|ACP1_ENST00000272065.5_Intron|ACP1_ENST00000407983.3_3'UTR|ACP1_ENST00000484464.1_Intron|ACP1_ENST00000405233.1_3'UTR NM_007099.3 NP_009030.1 P24666 PPAC_HUMAN acid phosphatase 1, soluble 70 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity p.H70Y(1) endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) TCATGGCATTCACACAGCCCA 0.468000 18 35 0 0 0.575678 0 0 TIAM2 26230 broad.mit.edu 37 6 155451515 155451515 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:155451515G>T ENST00000461783.3 + 6 2431 c.1158G>T c.(1156-1158)tgG>tgT p.W386C TIAM2_ENST00000456144.1_Missense_Mutation_p.W386C|TIAM2_ENST00000360366.4_Missense_Mutation_p.W386C|TIAM2_ENST00000318981.5_Missense_Mutation_p.W386C|TIAM2_ENST00000529824.2_Missense_Mutation_p.W386C|TIAM2_ENST00000367174.2_5'UTR Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 386 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.W386C(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TCAGTGACTGGACGGGAAGCC 0.547000 10 55 0.00136819 0.00143283 0.411799 1 0 OR5B3 441608 broad.mit.edu 37 11 58170341 58170341 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:58170341G>T ENST00000309403.2 - 1 541 c.542C>A c.(541-543)gCa>gAa p.A181E NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 181 A -> T (in dbSNP:rs11229411). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) AACCATGACTGCTGGAATATC 0.403000 7 114 4.36969e-10 5.62421e-10 0.435327 1 0 MAGI2 9863 broad.mit.edu 37 7 77885848 77885848 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:77885848C>G ENST00000354212.4 - 10 1712 c.1459G>C c.(1459-1461)Gca>Cca p.A487P MAGI2_ENST00000536571.1_Missense_Mutation_p.A319P|MAGI2_ENST00000535697.1_Missense_Mutation_p.A324P|MAGI2_ENST00000522391.1_Missense_Mutation_p.A487P|MAGI2_ENST00000419488.1_Missense_Mutation_p.A487P NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 487 PDZ 2. cell junction|synapse|synaptosome phosphatase binding p.A487P(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ACAACATCTGCATGAGTGTGT 0.413000 10 93 0 0 0.361761 0 0 HOXA5 3202 broad.mit.edu 37 7 27183102 27183102 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:27183102G>T ENST00000222726.3 - 1 185 c.125C>A c.(124-126)tCc>tAc p.S42Y HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 42 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S42*(1) central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 GTACCTGCCGGAGTGCATGCT 0.607000 14 49 3.27435e-08 3.99531e-08 0.457914 1 0 OBSCN 84033 broad.mit.edu 37 1 228475809 228475809 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:228475809G>A ENST00000570156.2 + 42 11220 c.11146G>A c.(11146-11148)Gaa>Aaa p.E3716K OBSCN_ENST00000366707.4_Missense_Mutation_p.E406K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3287K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2134K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E406K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3287K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2749 Ig-like 38. 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 p.E3570K(1)|p.E3471K(1)|p.E3287K(1)|p.E3341K(1) 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) GGAGGCCACAGAAGGGGCCAC 0.597000 10 72 0 0 0.335167 0 0 TTK 7272 broad.mit.edu 37 6 80741183 80741183 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:80741183G>T ENST00000509894.1 + 14 2347 c.e14-1 TTK_ENST00000230510.3_Splice_Site|TTK_ENST00000369798.2_Splice_Site P33981 TTK_HUMAN TTK protein kinase mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.?(2) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TACTTATTTAGGTTTTAGCAT 0.299000 12 86 2.80697e-09 3.53865e-09 0.387290 1 0 SSFA2 6744 broad.mit.edu 37 2 182794337 182794337 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:182794337G>T ENST00000320370.7 + 17 3837 c.3725G>T c.(3724-3726)tGc>tTc p.C1242F SSFA2_ENST00000409001.1_3'UTR|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409136.1_3'UTR|SSFA2_ENST00000431877.2_3'UTR|SSFA2_ENST00000428267.2_3'UTR NM_006751.5 NP_006742.2 P28290 SSFA2_HUMAN sperm specific antigen 2 0 cytoplasm|plasma membrane actin binding p.C1242F(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCAATGATATGCACTGGTGGA 0.338000 30 193 1.30293e-26 2.24082e-26 0.779181 1 0 DOCK9 23348 broad.mit.edu 37 13 99461650 99461650 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:99461650G>T ENST00000376460.1 - 48 5403 c.5323C>A c.(5323-5325)Cgc>Agc p.R1775S DOCK9_ENST00000339416.2_Missense_Mutation_p.R1776S|DOCK9_ENST00000448493.2_3'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1776 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.R1776S(1)|p.R1775S(1) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGAAGCCTGCGGCCCGAGTGC 0.542000 24 74 5.77227e-19 8.89242e-19 0.729181 1 0 OR5M3 219482 broad.mit.edu 37 11 56237377 56237377 + Silent SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:56237377T>A ENST00000312240.2 - 1 637 c.597A>T c.(595-597)atA>atT p.I199I NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I199I(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TGCCGGCAAGTATGATCATTG 0.413000 40 190 0 0 0.819951 0 0 LAMB1 3912 broad.mit.edu 37 7 107569637 107569637 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:107569637C>G ENST00000393561.1 - 29 5015 c.4831G>C c.(4831-4833)Gat>Cat p.D1611H LAMB1_ENST00000222399.6_Missense_Mutation_p.D1587H P07942 LAMB1_HUMAN laminin, beta 1 1587 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.D1587H(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTTTAACATCTGTTGCACTT 0.383000 32 203 0 0 0.769981 0 0 MYO7A 4647 broad.mit.edu 37 11 76870504 76870504 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:76870504G>C ENST00000409709.3 + 10 1287 c.1015G>C c.(1015-1017)Gaa>Caa p.E339Q MYO7A_ENST00000458637.2_Missense_Mutation_p.E339Q|MYO7A_ENST00000409893.1_Missense_Mutation_p.E339Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.E328Q NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 339 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity p.E339Q(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACGCACATTTGAAAACCTGGA 0.602000 14 49 0 0 0.479597 0 0 VCP 7415 broad.mit.edu 37 9 35061054 35061054 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:35061054G>A ENST00000358901.6 - 11 2212 c.1317C>T c.(1315-1317)gcC>gcT p.A439A NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 439 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding p.A439A(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCATGACCTCGGCATCAATGG 0.527000 54 380 0 0 0.870114 0 0 DLX5 1749 broad.mit.edu 37 7 96651650 96651650 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:96651650C>A ENST00000222598.4 - 2 860 c.387G>T c.(385-387)atG>atT p.M129I DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.M129I NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 129 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.M129_V130>IL(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) TGCCATTCACCATTCTCACCT 0.458000 16 166 0.000422831 0.000449294 0.500413 1 0 MAGEB3 4114 broad.mit.edu 37 X 30254106 30254106 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:30254106C>G ENST00000361644.2 + 5 802 c.65C>G c.(64-66)aCc>aGc p.T22S MAGEB3_ENST00000378986.1_Missense_Mutation_p.T22S NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 22 p.T22S(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 CGGGGTCAGACCCAGGATCAC 0.517000 15 57 0 0 0.500413 0 0 PTPRT 11122 broad.mit.edu 37 20 40733211 40733211 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:40733211G>T ENST00000373198.3 - 26 3839 c.3604C>A c.(3604-3606)Cag>Aag p.Q1202K PTPRT_ENST00000373201.1_Missense_Mutation_p.Q1170K|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q1190K|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q1179K|PTPRT_ENST00000373187.1_Missense_Mutation_p.Q1180K|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q1183K|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q1189K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1180 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.Q1202K(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCTCATACCTGAAATTCATCT 0.443000 41 129 2.77807e-22 4.52428e-22 0.864702 1 0 ZNF474 133923 broad.mit.edu 37 5 121488479 121488479 + Missense_Mutation SNP A A C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:121488479A>C ENST00000296600.4 + 2 1177 c.794A>C c.(793-795)aAg>aCg p.K265T CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 265 intracellular zinc ion binding p.K265T(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) CTCCCACAGAAGCCTCAGCCC 0.552000 4 11 0 0 0.248553 0 0 TRIML1 339976 broad.mit.edu 37 4 189061773 189061773 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:189061773G>T ENST00000332517.3 + 2 640 c.500G>T c.(499-501)tGc>tTc p.C167F NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 167 multicellular organismal development ligase activity|zinc ion binding p.C167F(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GTGAAACTGTGCCAGGTCGGT 0.423000 27 46 3.90053e-15 5.65931e-15 0.760397 1 0 TRAV17 28666 broad.mit.edu 37 14 22466152 22466152 + RNA SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:22466152C>A ENST00000390445.2 + 0 229 AGAAGAGGATCCTCAGGCCTT 0.418000 9 24 0.000274275 0.000291829 0.307466 1 0 NEURL4 84461 broad.mit.edu 37 17 7226813 7226813 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:7226813C>A ENST00000399464.2 - 14 2423 c.2408G>T c.(2407-2409)tGg>tTg p.W803L NEURL4_ENST00000570460.1_Missense_Mutation_p.W781L|NEURL4_ENST00000315614.7_Missense_Mutation_p.W803L NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 p.W803F(2) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCTCAGCATCCATGTGTCATA 0.572000 24 24 7.87624e-14 1.1144e-13 0.639603 1 0 LRRC4B 94030 broad.mit.edu 37 19 51051826 51051826 + Nonsense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:51051826G>C ENST00000599957.1 - 2 467 c.270C>G c.(268-270)taC>taG p.Y90* LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.Y90* Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 90 cell junction|integral to membrane|presynaptic membrane p.Y90*(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GCAGGTTCAGGTACCGCGTGT 0.667000 3 10 0 0 0.115264 0 0 MAP3K19 80122 broad.mit.edu 37 2 135744679 135744679 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:135744679G>T ENST00000375845.3 - 7 1793 c.1763C>A c.(1762-1764)cCc>cAc p.P588H MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P605H|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P475H|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 p.P588H(1) TTGAAACCTGGGCAATTGCCA 0.428000 53 193 1.38658e-30 2.46434e-30 0.870114 1 0 KRTAP21-1 337977 broad.mit.edu 37 21 32127565 32127565 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr21:32127565G>T ENST00000335093.3 - 1 181 c.132C>A c.(130-132)tcC>tcA p.S44S NM_181619.1 NP_853650.1 Q3LI58 KR211_HUMAN keratin associated protein 21-1 44 intermediate filament p.S44S(1) breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 agccataatgggagccaaacc 0.547000 4 61 3.59834e-05 3.9552e-05 0.217242 1 0 E4F1 1877 broad.mit.edu 37 16 2285496 2285496 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:2285496G>A ENST00000301727.4 + 14 2326 c.2278G>A c.(2278-2280)Gag>Aag p.E760K E4F1_ENST00000564139.1_3'UTR|E4F1_ENST00000565090.1_Missense_Mutation_p.E583K NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 760 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.E760K(1) ovary(1) 1 AGAGGACATCGAGATCCTGGA 0.652000 4 15 0 0 0.150653 0 0 UNC13C 440279 broad.mit.edu 37 15 54592569 54592569 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:54592569G>A ENST00000545554.1 + 12 4266 c.4266G>A c.(4264-4266)atG>atA p.M1422I UNC13C_ENST00000260323.11_Missense_Mutation_p.M1422I|UNC13C_ENST00000537900.1_Missense_Mutation_p.M1420I Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1422 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.M1422I(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATCAAGCTATGACGTAAGTAC 0.333000 3 9 0 0 0.115264 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890035 23890035 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:23890035G>T ENST00000532292.1 - 1 1140 c.1046C>A c.(1045-1047)tCc>tAc p.S349Y NM_019066.4 NP_061939.3 MAGE-like 2 p.S349Y(1) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CAGGATCCTGGAGGTGCTAGG 0.667000 13 24 3.27435e-08 3.99531e-08 0.457914 1 0 SIK1 150094 broad.mit.edu 37 21 44838254 44838254 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr21:44838254C>A ENST00000270162.6 - 12 1762 c.1630G>T c.(1630-1632)Ggg>Tgg p.G544W NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 544 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.G544W(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 GACTGCGACCCCAGGAAGGGC 0.716000 12 25 0.0242445 0.024964 0.479597 1 0 TRHDE 29953 broad.mit.edu 37 12 73046866 73046866 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:73046866G>T ENST00000261180.4 + 17 2875 c.2779G>T c.(2779-2781)Gct>Tct p.A927S NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 927 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.A927S(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AATCCATGTAGCTCGAAATCC 0.353000 23 108 4.72057e-08 5.72495e-08 0.667858 1 0 PCDHA11 56138 broad.mit.edu 37 5 140250061 140250061 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:140250061A>T ENST00000398640.2 + 1 1373 c.1373A>T c.(1372-1374)gAg>gTg p.E458V PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018902.3 NP_061725.1 p.E458V(1) breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACAGCCCGAGTACACCGTG 0.652000 21 86 0 0 0.592651 0 0 VCAM1 7412 broad.mit.edu 37 1 101190386 101190386 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:101190386G>A ENST00000294728.2 + 4 969 c.868G>A c.(868-870)Gtg>Atg p.V290M VCAM1_ENST00000347652.2_Missense_Mutation_p.V290M|VCAM1_ENST00000370119.4_Missense_Mutation_p.V228M|VCAM1_ENST00000370115.1_Missense_Mutation_p.V290M NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 290 Ig-like C2-type 3. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.V290M(1) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TGGAATTTATGTGTGTGAAGG 0.358000 24 94 0 0 0.667858 0 0 HOMER1 9456 broad.mit.edu 37 5 78697767 78697767 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:78697767C>T ENST00000334082.6 - 6 2081 c.639G>A c.(637-639)caG>caA p.Q213Q HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Silent_p.Q39Q|HOMER1_ENST00000282260.6_Intron NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 213 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane p.Q213Q(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) CAGCAAGTTGCTGTTTCCATT 0.478000 44 204 0 0 0.853193 0 0 CHAT 1103 broad.mit.edu 37 10 50827906 50827906 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:50827906C>A ENST00000395562.2 + 4 746 c.277C>A c.(277-279)Ctc>Atc p.L93I CHAT_ENST00000455728.2_Missense_Mutation_p.L57I|CHAT_ENST00000351556.3_Missense_Mutation_p.L57I|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Missense_Mutation_p.L57I|CHAT_ENST00000339797.1_Missense_Mutation_p.L57I|CHAT_ENST00000337653.2_Missense_Mutation_p.L175I NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 175 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity p.L175I(1) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCCTGGTGGCCTCGGCGAGAC 0.622000 7 10 1.08611e-07 1.30924e-07 0.387290 1 0 COL28A1 340267 broad.mit.edu 37 7 7571510 7571510 + Silent SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:7571510G>C ENST00000399429.3 - 3 290 c.150C>G c.(148-150)gtC>gtG p.V50V NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 50 VWFA 1. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity p.V50V(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCACGATGAAGACAATATCTA 0.358000 10 100 0 0 0.335167 0 0 DNAH17 8632 broad.mit.edu 37 17 76433798 76433798 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:76433798G>A ENST00000389840.5 - 74 12064 c.11940C>T c.(11938-11940)aaC>aaT p.N3980N DNAH17_ENST00000585328.1_Silent_p.N3981N|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 p.N3981N(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTTGATGGCGTTCTCCAGAA 0.652000 7 26 0 0 0.361761 0 0 SEMA4G 57715 broad.mit.edu 37 10 102732998 102732998 + Silent SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:102732998C>G ENST00000210633.3 + 2 315 c.237C>G c.(235-237)ctC>ctG p.L79L SEMA4G_ENST00000370250.4_Silent_p.L79L|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Silent_p.L79L Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 79 Sema. cell differentiation|nervous system development integral to membrane receptor activity p.L79L(1) breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) TGTTCTCTCTCAGTGCCAACG 0.607000 3 61 0 0 0.150653 0 0 CD163L1 283316 broad.mit.edu 37 12 7585988 7585988 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:7585988C>A ENST00000313599.3 - 3 484 c.427G>T c.(427-429)Gtt>Ttt p.V143F CD163L1_ENST00000416109.2_Missense_Mutation_p.V143F|CD163L1_ENST00000396630.1_Missense_Mutation_p.V143F Q9NR16 C163B_HUMAN CD163 molecule-like 1 143 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.V143F(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TTCACACCAACATCTTCTCCA 0.438000 44 80 2.84776e-26 4.87663e-26 0.870114 1 0 AIM2 9447 broad.mit.edu 37 1 159032508 159032508 + Splice_Site SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:159032508C>A ENST00000368130.4 - 6 1294 c.1005_splice c.e6-1 p.V336_splice NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 336 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus p.V336F(1) breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) GCCTTAATAACCTGGATGGAG 0.398000 14 71 4.3838e-07 5.1521e-07 0.435327 1 0 NSRP1 84081 broad.mit.edu 37 17 28506276 28506276 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:28506276G>A ENST00000247026.5 + 5 532 c.469G>A c.(469-471)Gaa>Aaa p.E157K NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 157 Necessary for alternative splicing activity. developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding p.E157K(1) autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 AGAGAGAGCTGAAGAAGAAGA 0.408000 7 29 0 0 0.278610 0 0 AGL 178 broad.mit.edu 37 1 100340791 100340791 + Silent SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:100340791C>G ENST00000294724.4 + 9 1642 c.1164C>G c.(1162-1164)ctC>ctG p.L388L AGL_ENST00000477753.1_3'UTR|AGL_ENST00000361915.3_Silent_p.L388L|AGL_ENST00000361302.3_Silent_p.L372L|AGL_ENST00000370165.3_Silent_p.L388L|AGL_ENST00000370161.2_Silent_p.L372L|AGL_ENST00000361522.4_Silent_p.L371L|AGL_ENST00000370163.3_Silent_p.L388L NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 388 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding p.L388L(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) AGCATCGACTCATTAACTATC 0.368000 19 61 0 0 0.539581 0 0 SLC6A19 340024 broad.mit.edu 37 5 1221988 1221988 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:1221988C>T ENST00000304460.10 + 12 1930 c.1874C>T c.(1873-1875)aCa>aTa p.T625I NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 625 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.T625I(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACACTGTCCACAGCCTCCATG 0.602000 10 29 0 0 0.435327 0 0 PTPRT 11122 broad.mit.edu 37 20 41076865 41076865 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:41076865A>T ENST00000373198.3 - 9 1790 c.1555T>A c.(1555-1557)Tac>Aac p.Y519N PTPRT_ENST00000373201.1_Missense_Mutation_p.Y519N|PTPRT_ENST00000373184.1_Missense_Mutation_p.Y519N|PTPRT_ENST00000373190.1_Missense_Mutation_p.Y519N|PTPRT_ENST00000373187.1_Missense_Mutation_p.Y519N|PTPRT_ENST00000373193.3_Missense_Mutation_p.Y519N|PTPRT_ENST00000356100.2_Missense_Mutation_p.Y519N NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 519 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.Y519N(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTTACCTCGTAGAGCGTGATG 0.488000 98 252 0 0 0.870114 0 0 CLCN3 1182 broad.mit.edu 37 4 170634343 170634343 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:170634343C>G ENST00000513761.1 + 12 2822 c.2263C>G c.(2263-2265)Ctt>Gtt p.L755V CLCN3_ENST00000347613.4_Missense_Mutation_p.L755V|CLCN3_ENST00000504131.2_Missense_Mutation_p.L738V|CLCN3_ENST00000360642.3_Missense_Mutation_p.L728V NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 755 CBS 2. endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity p.L755V(1) breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TCGAAGCATTCTTGACATGAG 0.493000 18 110 0 0 0.539581 0 0 CYP11B1 1584 broad.mit.edu 37 8 143960508 143960508 + Missense_Mutation SNP C C A rs61751139 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:143960508C>A ENST00000292427.4 - 2 367 c.335G>T c.(334-336)aGc>aTc p.S112I CYP11B1_ENST00000377675.3_Missense_Mutation_p.S157I|CYP11B1_ENST00000517471.1_Missense_Mutation_p.S112I NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 112 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity p.S112I(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GGGCTCCAGGCTCATCCTGTG 0.617000 Familial Hyperaldosteronism type I 7 35 4.4194e-11 5.84856e-11 0.769981 1 0 SERPING1 710 broad.mit.edu 37 11 57382045 57382045 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:57382045C>T ENST00000403558.1 + 7 1989 c.1623C>T c.(1621-1623)ccC>ccT p.P541P SERPING1_ENST00000378323.4_Silent_p.P503P|SERPING1_ENST00000378324.2_Silent_p.P446P|SERPING1_ENST00000340687.6_Silent_p.P461P|SERPING1_ENST00000278407.4_Silent_p.P498P NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 498 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity p.P498P(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 TATATGACCCCAGGGCCTGAG 0.622000 6 50 0 0 0.217242 0 0 PRRG3 79057 broad.mit.edu 37 X 150869017 150869017 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:150869017G>C ENST00000370353.3 + 4 598 c.208G>C c.(208-210)Gtc>Ctc p.V70L PRRG3_ENST00000538575.1_Missense_Mutation_p.V70L|PRRG3_ENST00000370354.1_3'UTR Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 70 extracellular region|integral to membrane calcium ion binding p.V70L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) AGTCTACTCTGTCCGAGACCC 0.527000 112 209 0 0 0.870114 0 0 ELP4 26610 broad.mit.edu 37 11 31531344 31531344 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:31531344G>T ENST00000395934.2 + 1 20 c.13G>T c.(13-15)Gca>Tca p.A5S ELP4_ENST00000379163.5_Missense_Mutation_p.A5S|ELP4_ENST00000350638.5_Missense_Mutation_p.A5S Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 5 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding p.A5S(2) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) GGCGGCAGTGGCAACCTGCGG 0.587000 5 17 1.08611e-07 1.30924e-07 0.387290 1 0 PRRC2B 84726 broad.mit.edu 37 9 134319603 134319603 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:134319603C>G ENST00000357304.4 + 5 556 c.501C>G c.(499-501)ttC>ttG p.F167L PRRC2B_ENST00000405995.1_Missense_Mutation_p.F167L|PRRC2B_ENST00000458550.1_Missense_Mutation_p.F167L NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 167 protein binding p.F167L(2) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 TGTTATCCTTCTCTCCCGAGG 0.547000 10 36 0 0 0.361761 0 0 KNDC1 85442 broad.mit.edu 37 10 135012104 135012104 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:135012104G>T ENST00000304613.3 + 14 2113 c.2092G>T c.(2092-2094)Gag>Tag p.E698* KNDC1_ENST00000368572.2_Nonsense_Mutation_p.E698*|KNDC1_ENST00000368571.2_Nonsense_Mutation_p.E633* Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 698 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction p.E698*(1) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CTTGGCCCAGGAGGAGTCCGA 0.706000 5 4 2.7689e-08 3.40984e-08 0.248553 1 0 LECT1 11061 broad.mit.edu 37 13 53307452 53307452 + Nonsense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:53307452G>A ENST00000448904.2 - 3 366 c.256C>T c.(256-258)Caa>Taa p.Q86* LECT1_ENST00000377962.3_Nonsense_Mutation_p.Q86* NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 86 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane p.Q86*(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) GACCCATCTTGTAATTTCCCA 0.383000 90 174 0 0 0.870114 0 0 WDFY3 23001 broad.mit.edu 37 4 85701425 85701425 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:85701425C>G ENST00000322366.6 - 26 4608 c.4201G>C c.(4201-4203)Gtt>Ctt p.V1401L WDFY3_ENST00000295888.4_Missense_Mutation_p.V1401L Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1401 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding p.V1401L(1) breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GTAGTGGCAACAGGCTTAGGG 0.443000 46 87 0 0 0.859065 0 0 TNR 7143 broad.mit.edu 37 1 175332952 175332952 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:175332952G>T ENST00000367674.1 - 13 3307 c.2599C>A c.(2599-2601)Cca>Aca p.P867T TNR_ENST00000263525.2_Missense_Mutation_p.P867T NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 867 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.P867T(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ATGTCTTTTGGGGGATCAATT 0.443000 22 106 2.89027e-11 3.83129e-11 0.624587 1 0 TBR1 10716 broad.mit.edu 37 2 162279909 162279909 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:162279909T>A ENST00000389554.3 + 6 1537 c.1220T>A c.(1219-1221)cTg>cAg p.L407Q TBR1_ENST00000410035.1_Missense_Mutation_p.L120Q|TBR1_ENST00000489530.1_3'UTR|AC009487.4_ENST00000437683.1_RNA NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 407 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.L407Q(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 ATGGACCGCCTGACCCCCTCG 0.692000 5 34 0 0 0.307466 0 0 TMTC1 83857 broad.mit.edu 37 12 29665010 29665010 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:29665010G>T ENST00000256062.5 - 17 2623 c.2150C>A c.(2149-2151)gCc>gAc p.A717D TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.A887D|TMTC1_ENST00000552618.1_Missense_Mutation_p.A849D|TMTC1_ENST00000539277.1_Missense_Mutation_p.A825D NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 825 integral to membrane binding p.A717D(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GTTCATCCAGGCCTGTGCTTG 0.458000 41 262 5.04308e-16 7.43877e-16 0.819951 1 0 IGLV7-46 28775 broad.mit.edu 37 22 22724453 22724453 + RNA SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr22:22724453C>A ENST00000390295.2 + 0 383 TAGTGGTGCTCGGCACAGTGA 0.552000 17 23 3.45872e-05 3.81751e-05 0.500413 1 0 GNAT3 346562 broad.mit.edu 37 7 80108232 80108232 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:80108232C>T ENST00000398291.3 - 4 479 c.386G>A c.(385-387)cGg>cAg p.R129Q CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 129 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.R129Q(2) endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 TCTCCACAGCCGTTTTATTAC 0.443000 96 137 0 0 0.870114 0 0 CNTLN 54875 broad.mit.edu 37 9 17135167 17135167 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:17135167G>C ENST00000380647.3 + 1 188 c.104G>C c.(103-105)cGc>cCc p.R35P CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000262360.5_Missense_Mutation_p.R35P|CNTLN_ENST00000380641.4_Missense_Mutation_p.R35P|CNTLN_ENST00000425824.1_Missense_Mutation_p.R35P Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 35 centriole|membrane two-component sensor activity p.R35P(1) breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) CACGCAATGCGCAGCGAGGCC 0.697000 3 6 0 0 0.115264 0 0 RP1L1 94137 broad.mit.edu 37 8 10473996 10473996 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:10473996C>A ENST00000382483.3 - 3 934 c.711G>T c.(709-711)gaG>gaT p.E237D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 237 intracellular signal transduction p.E237D(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AAGTTTCAGCCTCGCTTCTCC 0.542000 17 62 1.02788e-11 1.3879e-11 0.520397 1 0 VANGL1 81839 broad.mit.edu 37 1 116206455 116206455 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:116206455C>T ENST00000355485.2 + 4 649 c.378C>T c.(376-378)acC>acT p.T126T VANGL1_ENST00000310260.3_Silent_p.T126T|VANGL1_ENST00000369509.1_Silent_p.T126T|VANGL1_ENST00000369510.3_Silent_p.T124T NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 126 multicellular organismal development integral to membrane protein binding p.T126T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TTTTCCTCACCCCTATTGCCT 0.532000 25 112 0 0 0.654019 0 0 VKORC1 79001 broad.mit.edu 37 16 31105880 31105880 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:31105880G>T ENST00000319788.7 - 1 381 c.171C>A c.(169-171)tcC>tcA p.S57S RP11-196G11.1_ENST00000529564.1_Silent_p.S57S|VKORC1_ENST00000300851.6_Silent_p.S57S|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000394975.2_Silent_p.S57S|VKORC1_ENST00000354895.4_Silent_p.S57S Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 57 peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity p.S57S(1) lung(3)|urinary_tract(1) 4 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) GTGCACACCTGGAGGAGAAGA 0.687000 11 13 4.36969e-10 5.62421e-10 0.435327 1 0 KLK8 11202 broad.mit.edu 37 19 51501051 51501051 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:51501051C>A ENST00000600767.1 - 6 1072 c.583G>T c.(583-585)Ggc>Tgc p.G195C KLK8_ENST00000598195.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_Missense_Mutation_p.G195C|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Missense_Mutation_p.G54C|KLK8_ENST00000391806.2_Missense_Mutation_p.G240C O60259 KLK8_HUMAN kallikrein-related peptidase 8 195 Peptidase S1. G -> V (in Ref. 11; AAH40887). cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity p.G240C(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) CAGACCATGCCATCTGTGATC 0.512000 46 73 8.20599e-20 1.27898e-19 0.859065 1 0 PCDHA11 56138 broad.mit.edu 37 5 140248772 140248772 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:140248772C>A ENST00000398640.2 + 1 84 c.84C>A c.(82-84)agC>agA p.S28R PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018902.3 NP_061725.1 p.S28R(1) breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGGGGAGCGGCCAGCTCC 0.622000 15 53 8.00594e-06 8.94782e-06 0.557998 1 0 ARFIP1 27236 broad.mit.edu 37 4 153803943 153803943 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:153803943C>A ENST00000451320.2 + 7 866 c.702C>A c.(700-702)gcC>gcA p.A234A ARFIP1_ENST00000405727.2_Silent_p.A202A|ARFIP1_ENST00000429148.2_Silent_p.A54A|ARFIP1_ENST00000356064.3_Silent_p.A202A|ARFIP1_ENST00000353617.2_Silent_p.A234A P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 234 AH. intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane p.A234A(2) ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) TTCTTGGGGCCATTAATTTTT 0.363000 58 54 4.17463e-26 7.1031e-26 0.870114 1 0 IGHM 3507 broad.mit.edu 37 14 106321244 106321244 + RNA SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:106321244G>C ENST00000390559.2 - 0 744 TAGGTGGTCAGGTCTGTGACC 0.567000 5 75 0 0 0.184627 0 0 MGAT5 4249 broad.mit.edu 37 2 135076304 135076304 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:135076304C>T ENST00000409645.1 + 5 819 c.567C>T c.(565-567)ctC>ctT p.L189L MGAT5_ENST00000281923.2_Silent_p.L189L Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 189 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity p.L189L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TTATTTACCTCAGTGAGGTGA 0.458000 35 137 0 0 0.760397 0 0 DSG1 1828 broad.mit.edu 37 18 28935179 28935179 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr18:28935179G>T ENST00000257192.4 + 15 3232 c.3020G>T c.(3019-3021)gGa>gTa p.G1007V RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G366V NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 1007 Gly/Ser-rich. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding p.G1007V(1) NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AGCAGCTTGGGAGGGACAGCC 0.587000 21 28 3.08376e-08 3.7743e-08 0.654019 1 0 ANK1 286 broad.mit.edu 37 8 41550651 41550651 + Missense_Mutation SNP C C A rs139513895 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:41550651C>A ENST00000396942.1 - 30 3684 c.3601G>T c.(3601-3603)Gcc>Tcc p.A1201S ANK1_ENST00000289734.7_Missense_Mutation_p.A1201S|ANK1_ENST00000265709.8_Missense_Mutation_p.A1242S|ANK1_ENST00000347528.4_Missense_Mutation_p.A1201S|ANK1_ENST00000396945.1_Missense_Mutation_p.A1201S|ANK1_ENST00000352337.4_Missense_Mutation_p.A1201S|ANK1_ENST00000379758.2_Missense_Mutation_p.A1201S P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1201 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.A1201S(1)|p.A1201T(1)|p.A1242S(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTGAAGTTGGCGCACTCGTTG 0.577000 67 68 2.18329e-32 3.89768e-32 0.870114 1 0 DOCK8 81704 broad.mit.edu 37 9 340166 340166 + Silent SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:340166A>G ENST00000432829.2 + 14 1636 c.1320A>G c.(1318-1320)ctA>ctG p.L440L DOCK8_ENST00000453981.1_Silent_p.L508L|DOCK8_ENST00000469391.1_Silent_p.L440L NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 508 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.L440L(1)|p.L508L(1) breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TAGGCTTGCTAAGACTGGAGA 0.423000 16 88 0 0 0.557998 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627756 43627756 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:43627756G>C ENST00000332857.6 - 4 959 c.931C>G c.(931-933)Cag>Gag p.Q311E NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.Q311K(1)|p.Q311E(1) GCTTCCATCTGACAGGTCTCT 0.532000 124 255 0 0 0.870114 0 0 ENPP2 5168 broad.mit.edu 37 8 120638941 120638941 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:120638941C>A ENST00000427067.2 - 3 324 c.144G>T c.(142-144)tgG>tgT p.W48C ENPP2_ENST00000259486.6_Missense_Mutation_p.W52C|ENPP2_ENST00000522826.1_Missense_Mutation_p.W52C|ENPP2_ENST00000075322.6_Missense_Mutation_p.W52C Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 52 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding p.W52C(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AGATGTTGGTCCAGGGGGAGT 0.512000 14 151 7.93312e-07 9.2015e-07 0.457914 1 0 PRSS37 136242 broad.mit.edu 37 7 141537763 141537763 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:141537763G>T ENST00000350549.3 - 3 698 c.327C>A c.(325-327)gcC>gcA p.A109A PRSS37_ENST00000438520.1_Silent_p.A109A NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 109 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.A109A(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 GATTGAGCATGGCAGGCTTAG 0.532000 92 105 5.92634e-42 1.12333e-41 0.870114 1 0 PSG2 5670 broad.mit.edu 37 19 43586697 43586697 + Missense_Mutation SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:43586697A>G ENST00000406487.1 - 1 123 c.25T>C c.(25-27)Tgc>Cgc p.C9R PSG2_ENST00000491995.1_5'UTR NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 9 cell migration|female pregnancy extracellular region p.C9R(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TGCTCTGTGCAGGGAGGGGCT 0.582000 47 133 0 0 0.870114 0 0 COL19A1 1310 broad.mit.edu 37 6 70647993 70647993 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:70647993G>T ENST00000322773.4 + 9 1038 c.e9+1 NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging p.?(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 AGGAGAGCCGGTAAGAAAAAA 0.373000 9 70 5.68852e-11 7.49083e-11 0.307466 1 0 NR5A2 2494 broad.mit.edu 37 1 200143263 200143263 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:200143263C>T ENST00000367362.3 + 8 1797 c.1551C>T c.(1549-1551)ctC>ctT p.L517L NR5A2_ENST00000544748.1_Silent_p.L445L|NR5A2_ENST00000236914.3_Silent_p.L471L NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 517 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.L517L(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) AAGAATACCTCTACTACAAGC 0.463000 25 75 0 0 0.667858 0 0 COL4A2 1284 broad.mit.edu 37 13 111119407 111119407 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:111119407G>C ENST00000360467.5 + 27 2365 c.2059G>C c.(2059-2061)Gga>Cga p.G687R NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 687 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding p.G687R(1) NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGGGCCCAAGGGATTGCCAGG 0.597000 26 78 0 0 0.706142 0 0 CXorf67 340602 broad.mit.edu 37 X 51150411 51150411 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:51150411C>A ENST00000342995.2 + 1 645 c.543C>A c.(541-543)ccC>ccA p.P181P chromosome X open reading frame 67 p.P181P(1) breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 GGTTCCGGCCCAGCAGCTATC 0.652000 3 3 2.0095e-06 2.29083e-06 0.248553 1 0 POLA2 23649 broad.mit.edu 37 11 65048471 65048471 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:65048471C>T ENST00000265465.3 + 8 1284 c.753C>T c.(751-753)gtC>gtT p.V251V POLA2_ENST00000541089.1_Silent_p.V43V NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 251 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding p.V251V(2) endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) AGGAGCCTGTCACTCTGCTGG 0.493000 32 90 0 0 0.840704 0 0 RAB9BP1 9366 broad.mit.edu 37 5 104435726 104435726 + RNA SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:104435726G>T ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA GACTCAGAGAGTGATGGTCTG 0.413000 4 15 0.00024832 0.000264919 0.150653 1 0 ZNF681 148213 broad.mit.edu 37 19 23927877 23927877 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:23927877C>A ENST00000402377.3 - 4 616 c.475G>T c.(475-477)Gga>Tga p.G159* ZNF681_ENST00000395385.3_Nonsense_Mutation_p.G90* NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G159*(1)|p.G90*(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACCTTATGTCCATTTAAATTT 0.259000 12 17 5.16669e-11 6.8149e-11 0.387290 1 0 ITFG1 81533 broad.mit.edu 37 16 47252779 47252779 + Splice_Site SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:47252779C>G ENST00000320640.6 - 14 1681 c.1453_splice c.e14+1 p.A485_splice ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Splice_Site_p.A372_splice NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 485 extracellular region|integral to membrane p.A485P(1) breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) CTGGTCTTACCTGATCCATTT 0.333000 23 71 0 0 0.693898 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C A rs28934576 by1000genomes TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:7577120C>A ENST00000420246.2 - 8 950 c.818G>T c.(817-819)cGt>cTt p.R273L TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 26 0.00024832 0.000264919 0.150653 1 0 PCDHB8 56128 broad.mit.edu 37 5 140559862 140559862 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:140559862C>A ENST00000239444.2 + 1 2492 c.2247C>A c.(2245-2247)aaC>aaA p.N749K NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 749 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.N749K(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTCTCAGAACTATCAGTACG 0.597000 17 109 7.45023e-12 1.0111e-11 0.592651 1 0 WASF3 10810 broad.mit.edu 37 13 27255391 27255391 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:27255391C>T ENST00000361042.4 + 8 1133 c.908C>T c.(907-909)cCc>cTc p.P303L WASF3_ENST00000335327.5_Missense_Mutation_p.P306L Q9UPY6 WASF3_HUMAN WAS protein family, member 3 306 actin filament polymerization cytoplasm|cytoskeleton actin binding p.P306L(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGCCGCCCCCCCCGCCTCCC 0.677000 20 24 0 0 0.693898 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843071 22843071 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr22:22843071G>A ENST00000360412.2 - 4 1428 c.653C>T c.(652-654)cCc>cTc p.P218L ZNF280B_ENST00000406426.1_Missense_Mutation_p.P218L NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P218L(1) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) ATTATTTGAGGGTGTACTTTG 0.388000 28 284 0 0 0.729181 0 0 NEXN 91624 broad.mit.edu 37 1 78399075 78399075 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:78399075G>A ENST00000330010.8 + 9 1267 c.970G>A c.(970-972)Gaa>Aaa p.E324K NEXN_ENST00000457030.1_Missense_Mutation_p.E374K|NEXN_ENST00000334785.7_Missense_Mutation_p.E388K|NEXN_ENST00000480732.1_3'UTR NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 388 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle p.E388K(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) AAAAATGGAAGAAGAAAAACG 0.353000 10 50 0 0 0.335167 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735551 55735551 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:55735551T>A ENST00000312345.2 - 1 439 c.389A>T c.(388-390)aAa>aTa p.K130I NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K130I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AATGCAGACTTTGTGGTTCAT 0.458000 34 64 0 0 0.769981 0 0 FBXL19 54620 broad.mit.edu 37 16 30937210 30937210 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:30937210C>T ENST00000338343.4 + 2 522 c.135C>T c.(133-135)ccC>ccT p.P45P FBXL19_ENST00000565690.1_Silent_p.P45P|FBXL19_ENST00000562319.1_Silent_p.P45P|FBXL19_ENST00000380310.2_Silent_p.P65P|FBXL19_ENST00000471231.2_5'UTR Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 65 Arg-rich. DNA binding|zinc ion binding p.P65P(1) breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 TCGGGGGGCCCGGGCGCATGA 0.662000 3 6 0 0 0.115264 0 0 PNISR 25957 broad.mit.edu 37 6 99857222 99857222 + Splice_Site SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:99857222T>A ENST00000369239.5 - 6 706 c.e6-2 PNISR_ENST00000438806.1_Splice_Site NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein nuclear speck p.?(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 AGCCCCATGCTGAAAGAGTAT 0.458000 39 61 0 0 0.840704 0 0 MRC2 9902 broad.mit.edu 37 17 60744814 60744814 + Nonsense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:60744814G>A ENST00000303375.5 + 6 1439 c.1037G>A c.(1036-1038)tGg>tAg p.W346* NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 346 C-type lectin 1. endocytosis integral to membrane receptor activity|sugar binding p.W346*(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 TCGGGCGGCTGGCAGAACCGT 0.672000 18 40 0 0 0.575678 0 0 BLK 640 broad.mit.edu 37 8 11412873 11412873 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:11412873C>G ENST00000259089.4 + 8 1244 c.652C>G c.(652-654)Ctg>Gtg p.L218V BLK_ENST00000529894.1_Missense_Mutation_p.L147V NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 218 SH2. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity p.L218V(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) GAGGCTGACCCTGCCCTGTGT 0.617000 9 56 0 0 0.411799 0 0 CXCR1 3577 broad.mit.edu 37 2 219029412 219029412 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:219029412G>A ENST00000295683.2 - 2 643 c.523C>T c.(523-525)Cgc>Tgc p.R175C NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 175 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity p.R175C(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 TAAGCCTGGCGGAAAAGGAAG 0.522000 9 37 0 0 0.307466 0 0 NLRP13 126204 broad.mit.edu 37 19 56413553 56413553 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:56413553C>A ENST00000588751.1 - 9 2661 c.2637G>T c.(2635-2637)ctG>ctT p.L879L NLRP13_ENST00000342929.3_Silent_p.L879L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 879 ATP binding p.L879L(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CGGGTGCTGCCAGCTGGCAAA 0.592000 8 25 3.86212e-05 4.22188e-05 0.361761 1 0 APAF1 317 broad.mit.edu 37 12 99097167 99097167 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:99097167A>T ENST00000550527.1 + 17 2459 c.2452A>T c.(2452-2454)Agt>Tgt p.S818C APAF1_ENST00000339433.3_Intron|APAF1_ENST00000359972.2_Intron|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000547045.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.S829C|APAF1_ENST00000357310.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000333991.1_Intron O14727 APAF_HUMAN apoptotic peptidase activating factor 1 829 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding p.S829C(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) CATTCATACTAGTGGCCTATT 0.398000 15 78 0 0 0.500413 0 0 NIPBL 25836 broad.mit.edu 37 5 36986345 36986345 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:36986345G>T ENST00000282516.8 + 10 3562 c.3063G>T c.(3061-3063)gaG>gaT p.E1021D NIPBL_ENST00000448238.2_Missense_Mutation_p.E1021D|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1021 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding p.E1021D(2) autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AAGATAGAGAGGACAAATCAA 0.303000 31 195 1.13719e-10 1.48523e-10 0.729181 1 0 MCM6 4175 broad.mit.edu 37 2 136633878 136633878 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:136633878C>A ENST00000264156.2 - 1 118 c.58G>T c.(58-60)Gac>Tac p.D20Y NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 20 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding p.D20Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) GCCACCTCGTCGCGGACCTCC 0.701000 5 11 0.0381472 0.0391279 0.278610 1 0 CTSF 8722 broad.mit.edu 37 11 66333189 66333189 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:66333189C>A ENST00000310325.5 - 8 1107 c.998G>T c.(997-999)tGc>tTc p.C333F NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 333 proteolysis lysosome cysteine-type endopeptidase activity p.C333F(1) endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GCCGCCCATGCAGGCCTTGTC 0.567000 38 177 1.59361e-14 2.28723e-14 0.827153 1 0 OR8A1 390275 broad.mit.edu 37 11 124440496 124440496 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:124440496G>T ENST00000284287.3 + 1 604 c.532G>T c.(532-534)Ggc>Tgc p.G178C NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G178C(1) haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) AATAGAAACTGGCCTCATGTT 0.493000 11 93 2.27111e-07 2.70904e-07 0.411799 1 0 MRS2 57380 broad.mit.edu 37 6 24403396 24403396 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:24403396G>C ENST00000378386.3 + 1 215 c.122G>C c.(121-123)cGc>cCc p.R41P MRS2_ENST00000274747.7_Missense_Mutation_p.R41P|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.R41P|MRS2_ENST00000535061.1_Missense_Mutation_p.R41P|MRS2_ENST00000378353.1_Missense_Mutation_p.R41P|MRS2_ENST00000483634.1_3'UTR NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 41 ion transport integral to membrane|mitochondrial inner membrane p.R41P(1) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 GCCTGCGGCCGCCGAGCCAAC 0.711000 4 9 0 0 0.387290 0 0 MPPED2 744 broad.mit.edu 37 11 30439175 30439175 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:30439175G>T ENST00000448418.2 - 5 902 c.542C>A c.(541-543)cCg>cAg p.P181Q MPPED2_ENST00000358117.5_Missense_Mutation_p.P181Q|MPPED2_ENST00000524667.1_5'UTR NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 181 nervous system development hydrolase activity|metal ion binding p.P181Q(2) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 ATTAAACCACGGGGTCCTTTG 0.527000 21 39 2.44723e-14 3.49354e-14 0.681144 1 0 LAMA4 3910 broad.mit.edu 37 6 112493878 112493878 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:112493878G>T ENST00000230538.7 - 12 1883 c.1486C>A c.(1486-1488)Ctt>Att p.L496I LAMA4_ENST00000389463.4_Missense_Mutation_p.L489I|LAMA4_ENST00000424408.2_Missense_Mutation_p.L489I|LAMA4_ENST00000522006.1_Missense_Mutation_p.L489I NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 496 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.L489I(1) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ACATAGTTAAGGGCCTGGTCA 0.542000 16 118 1.5739e-10 2.05224e-10 0.500413 1 0 RNF185 91445 broad.mit.edu 37 22 31597539 31597539 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr22:31597539G>T ENST00000326132.5 + 6 578 c.419G>T c.(418-420)gGg>gTg p.G140V RNF185_ENST00000266252.7_Missense_Mutation_p.G84V|RNF185_ENST00000426256.2_Missense_Mutation_p.G78V NM_152267.3 NP_689480.2 Q96GF1 RN185_HUMAN ring finger protein 185 140 integral to membrane zinc ion binding p.G140V(1) NS(1)|large_intestine(1)|lung(3)|skin(1) 6 TTTGGAATTGGGGCATTTCCC 0.438000 122 154 8.88823e-52 1.72156e-51 0.870114 1 0 OR8J3 81168 broad.mit.edu 37 11 55904311 55904311 + Missense_Mutation SNP T T C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:55904311T>C ENST00000301529.1 - 1 883 c.884A>G c.(883-885)aAt>aGt p.N295S NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N295S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) ATTTACATCATTATTCCTCAG 0.353000 28 130 0 0 0.729181 0 0 SHC3 53358 broad.mit.edu 37 9 91653014 91653014 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:91653014C>A ENST00000375835.4 - 11 1856 c.1550G>T c.(1549-1551)gGa>gTa p.G517V SHC3_ENST00000375830.1_Missense_Mutation_p.G65V|SHC3_ENST00000375831.1_Missense_Mutation_p.G65V NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 517 SH2. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity p.G517V(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CAGGAAGTCTCCGTCTTTCTC 0.597000 55 245 2.12129e-23 3.50473e-23 0.870114 1 0 CYP11B1 1584 broad.mit.edu 37 8 143960517 143960517 + Missense_Mutation SNP T T C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:143960517T>C ENST00000292427.4 - 2 358 c.326A>G c.(325-327)cAc>cGc p.H109R CYP11B1_ENST00000377675.3_Missense_Mutation_p.H154R|CYP11B1_ENST00000517471.1_Missense_Mutation_p.H109R NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 109 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GCTCATCCTGTGGGGATGCAG 0.617000 Familial Hyperaldosteronism type I 4 43 0 0 0.760397 0 0 CSMD3 114788 broad.mit.edu 37 8 113871477 113871477 + Missense_Mutation SNP T T G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:113871477T>G ENST00000297405.5 - 11 1896 c.1652A>C c.(1651-1653)aAt>aCt p.N551T CSMD3_ENST00000343508.3_Missense_Mutation_p.N511T|CSMD3_ENST00000352409.3_Missense_Mutation_p.N551T|CSMD3_ENST00000455883.2_Missense_Mutation_p.N447T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 551 CUB 3. integral to membrane|plasma membrane p.N551T(1)|p.N511T(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 TCCTTGAAGATTAGAGCCACA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 169 0 0 0.539581 0 0 DCLK3 85443 broad.mit.edu 37 3 36779850 36779850 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:36779850C>A ENST00000416516.2 - 2 791 c.301G>T c.(301-303)Gag>Tag p.E101* NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 101 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.E101*(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GGTTCTGGCTCCCATTTCCCC 0.592000 61 181 7.92265e-33 1.42074e-32 0.870114 1 0 KCNK13 56659 broad.mit.edu 37 14 90650778 90650778 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:90650778G>A ENST00000282146.4 + 2 1099 c.658G>A c.(658-660)Gaa>Aaa p.E220K NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 220 integral to membrane potassium channel activity|voltage-gated ion channel activity p.E220K(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CACCCCCATTGAAGGCTGGAG 0.557000 13 210 0 0 0.411799 0 0 NCAN 1463 broad.mit.edu 37 19 19334879 19334879 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:19334879C>G ENST00000252575.5 + 4 568 c.525C>G c.(523-525)ttC>ttG p.F175L NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 175 Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding p.F175L(1)|p.F189L(1) breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CACTGACCTTCGCTGAGGCCC 0.577000 28 48 0 0 0.706142 0 0 IRS2 8660 broad.mit.edu 37 13 110434665 110434665 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:110434665C>A ENST00000375856.3 - 1 4250 c.3736G>T c.(3736-3738)Ggc>Tgc p.G1246C NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1246 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity p.G1246C(1) kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) TTCTGGAAGCCGGCAGAGGTC 0.716000 8 7 5.50884e-06 6.17423e-06 0.411799 1 0 EPHB1 2047 broad.mit.edu 37 3 134920428 134920428 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:134920428G>A ENST00000398015.3 + 12 2613 c.2243G>A c.(2242-2244)aGg>aAg p.R748K EPHB1_ENST00000493838.1_Missense_Mutation_p.R309K NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 748 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.R748K(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CTGGCTGCTAGGAACATTCTG 0.557000 40 193 0 0 0.827153 0 0 NELL2 4753 broad.mit.edu 37 12 45001031 45001031 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:45001031G>T ENST00000429094.2 - 15 2088 c.1584C>A c.(1582-1584)ggC>ggA p.G528G NELL2_ENST00000551601.1_Silent_p.G527G|NELL2_ENST00000549027.1_Silent_p.G527G|NELL2_ENST00000452445.2_Silent_p.G528G|NELL2_ENST00000333837.4_Silent_p.G551G|NELL2_ENST00000437801.2_Silent_p.G578G|NELL2_ENST00000395487.2_Silent_p.G527G NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 528 EGF-like 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity p.G578G(1)|p.G528G(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CATTCCTACAGCCATCTTTGC 0.398000 19 54 3.32936e-07 3.93604e-07 0.539581 1 0 TRPM1 4308 broad.mit.edu 37 15 31320613 31320613 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:31320613C>A ENST00000542188.1 - 24 3579 c.3266G>T c.(3265-3267)tGg>tTg p.W1089L RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.W1050L|TRPM1_ENST00000256552.6_Missense_Mutation_p.W1072L NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1050 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity p.W1050L(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TGGAGTGAGCCAGGCGCCGGG 0.512000 37 69 4.90274e-10 6.29001e-10 0.819951 1 0 COL27A1 85301 broad.mit.edu 37 9 116968563 116968563 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:116968563C>T ENST00000356083.3 + 10 2646 c.2255C>T c.(2254-2256)cCc>cTc p.P752L NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 752 Collagen-like 3.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent p.P752L(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GATCCCGGCCCCAAAGGCAGC 0.592000 7 39 0 0 0.278610 0 0 APOB 338 broad.mit.edu 37 2 21234718 21234718 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:21234718C>G ENST00000233242.1 - 26 5149 c.5022G>C c.(5020-5022)gaG>gaC p.E1674D NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1674 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.E1674D(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGAGGCCAAGCTCTGCATTCA 0.493000 16 67 0 0 0.479597 0 0 PLK1 5347 broad.mit.edu 37 16 23695377 23695377 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:23695377A>T ENST00000300093.4 + 5 1114 c.1003A>T c.(1003-1005)Agc>Tgc p.S335C NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 335 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding p.S335C(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) CCTGGACCCCAGCAACCGGAA 0.557000 25 171 0 0 0.681144 0 0 HOXA5 3202 broad.mit.edu 37 7 27181683 27181683 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:27181683C>A ENST00000222726.3 - 2 644 c.584G>T c.(583-585)gGc>gTc p.G195V HOXA5_ENST00000520854.1_5'UTR|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 195 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G195V(1) central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 GGCCCTTTTGCCTTCCGGGCC 0.562000 OREG0017911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 26 1.85244e-09 2.3539e-09 0.654019 1 0 BBS9 27241 broad.mit.edu 37 7 33423310 33423310 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:33423310G>C ENST00000242067.6 + 18 2343 c.1822G>C c.(1822-1824)Gat>Cat p.D608H BBS9_ENST00000396127.2_Missense_Mutation_p.D573H|BBS9_ENST00000355070.2_Missense_Mutation_p.D603H|BBS9_ENST00000354265.4_Missense_Mutation_p.D573H|BBS9_ENST00000350941.3_Missense_Mutation_p.D568H NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 608 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.D608H(2) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) ACAATTTGAAGATCTTTGGCT 0.333000 Bardet-Biedl syndrome 12 43 0 0 0.411799 0 0 OR6C76 390326 broad.mit.edu 37 12 55820133 55820133 + Silent SNP G G T rs143110732 by1000genomes TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:55820133G>T ENST00000328314.3 + 1 96 c.96G>T c.(94-96)acG>acT p.T32T NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T32T(1) NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TATTTCTTACGTATGTACTGA 0.423000 69 196 3.07281e-33 5.54775e-33 0.870114 1 0 DPP6 1804 broad.mit.edu 37 7 154598762 154598762 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:154598762T>A ENST00000404039.1 + 16 2001 c.1414T>A c.(1414-1416)Tgc>Agc p.C472S DPP6_ENST00000377770.3_Missense_Mutation_p.C536S|DPP6_ENST00000427557.1_Missense_Mutation_p.C429S|DPP6_ENST00000332007.3_Missense_Mutation_p.C474S NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 536 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.C472S(1)|p.C474S(1)|p.C536S(1) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GGTTGAGAACTGCACCTACTT 0.582000 49 91 0 0 0.870114 0 0 TMEFF1 8577 broad.mit.edu 37 9 103338820 103338820 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:103338820G>T ENST00000374879.4 + 10 1513 c.1081G>T c.(1081-1083)Gga>Tga p.G361* MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.R324M|TMEFF1_ENST00000334943.6_Nonsense_Mutation_p.G322* NM_003692.4 NP_003683.2 transmembrane protein with EGF-like and two follistatin-like domains 1 p.G361*(1) NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1) 19 Acute lymphoblastic leukemia(62;0.0452) AAACAATAGAGGACGTCGACA 0.328000 15 132 6.72482e-11 8.81184e-11 0.479597 1 0 GRK7 131890 broad.mit.edu 37 3 141497180 141497180 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:141497180G>T ENST00000264952.2 + 1 191 c.54G>T c.(52-54)caG>caT p.Q18H NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 18 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.Q18H(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CCTACCTGCAGGCCCGGAAGC 0.701000 25 57 1.36615e-20 2.14603e-20 0.769981 1 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342471 60342471 + RNA SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:60342471G>T ENST00000581291.1 - 0 1682 breast(2)|kidney(1)|lung(2) 5 CCCTAGCTCTGAAGGGGGTGC 0.607000 11 99 2.61681e-11 3.48617e-11 0.457914 1 0 KIF7 374654 broad.mit.edu 37 15 90177050 90177050 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:90177050C>T ENST00000394412.3 - 12 2535 c.2459G>A c.(2458-2460)cGa>cAa p.R820Q NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 820 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding p.R307Q(1)|p.R820Q(1) central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CTCCTGCAGTCGCTTCTCACT 0.652000 12 29 0 0 0.387290 0 0 GMPS 8833 broad.mit.edu 37 3 155655474 155655474 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:155655474G>T ENST00000496455.1 + 16 2410 c.2075G>T c.(2074-2076)tGg>tTg p.W692L GMPS_ENST00000295920.7_Missense_Mutation_p.W593L NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 692 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity p.W692L(1) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) ACTACTGAGTGGGAGTAATAA 0.348000 T MLL AML 35 59 1.49673e-21 2.39357e-21 0.819951 1 0 FAM71B 153745 broad.mit.edu 37 5 156589540 156589540 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:156589540C>T ENST00000302938.4 - 2 1831 c.1736G>A c.(1735-1737)gGt>gAt p.G579D NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 579 nucleus p.G579D(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTCCTGGCCACCCTGGGCTTT 0.483000 91 412 0 0 0.870114 0 0 NPAS3 64067 broad.mit.edu 37 14 33684503 33684503 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:33684503A>T ENST00000346562.2 + 2 240 c.166A>T c.(166-168)Agc>Tgc p.S56C NPAS3_ENST00000357798.5_Missense_Mutation_p.S56C|NPAS3_ENST00000356141.4_Missense_Mutation_p.S86C|NPAS3_ENST00000341321.4_Missense_Mutation_p.S86C|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551492.1_Missense_Mutation_p.S93C|NPAS3_ENST00000548645.1_Missense_Mutation_p.S56C|NPAS3_ENST00000551008.1_5'UTR NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.S56C(2)|p.S86C(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) AGCCATTACCAGCCAGCTCGA 0.498000 42 83 0 0 0.870114 0 0 OR4A15 81328 broad.mit.edu 37 11 55135609 55135609 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:55135609G>T ENST00000314706.3 + 1 250 c.250G>T c.(250-252)Ggt>Tgt p.G84C NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G84C(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 CCAGTCCCTGGGTTCCCCCAT 0.423000 61 133 8.27458e-37 1.53204e-36 0.870114 1 0 MAP1A 4130 broad.mit.edu 37 15 43820739 43820739 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:43820739T>A ENST00000382031.1 + 5 7813 c.7782T>A c.(7780-7782)gaT>gaA p.D2594E MAP1A_ENST00000399453.1_Missense_Mutation_p.D2356E|MAP1A_ENST00000300231.5_Missense_Mutation_p.D2356E P78559 MAP1A_HUMAN microtubule-associated protein 1A 2356 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.D2356E(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCTCTGAGGATTGTGCAGCCA 0.632000 3 12 0 0 0.184627 0 0 TIE1 7075 broad.mit.edu 37 1 43773124 43773124 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:43773124G>A ENST00000372476.3 + 6 873 c.794G>A c.(793-795)gGg>gAg p.G265E TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000538015.1_Missense_Mutation_p.G265E|TIE1_ENST00000441333.2_Missense_Mutation_p.G265E NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 265 EGF-like 2. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.G265E(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGCCGTTTTGGGCAGAGCTGC 0.637000 12 47 0 0 0.411799 0 0 PRSS41 360226 broad.mit.edu 37 16 2854924 2854924 + RNA SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:2854924G>T ENST00000399677.1 + 0 748 Q7RTY9 PRS41_HUMAN protease, serine, 41 proteolysis anchored to membrane|plasma membrane serine-type endopeptidase activity GGGTGACTCAGGTGGACCCTT 0.622000 5 4 1.23904e-05 1.37902e-05 0.184627 1 0 CLCA1 1179 broad.mit.edu 37 1 86934763 86934763 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:86934763G>T ENST00000234701.3 + 2 460 c.109G>T c.(109-111)Gtt>Ttt p.V37F CLCA1_ENST00000394711.1_Missense_Mutation_p.V37F A8K7I4 CLCA1_HUMAN chloride channel accessory 1 37 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity p.V37F(1) NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AGGCATTGTCGTTGCAATCGA 0.363000 20 138 8.34094e-07 9.66047e-07 0.575678 1 0 TAS2R30 259293 broad.mit.edu 37 12 11286554 11286554 + Nonsense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:11286554C>T ENST00000539585.1 - 1 689 c.290G>A c.(289-291)tGg>tAg p.W97* TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_001097643.1 NP_001091112.1 taste receptor, type 2, member 30 p.W97*(1) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 AGTAGCAAGCCAGCTGCTGAA 0.393000 64 82 0 0 0.870114 0 0 NPAP1 23742 broad.mit.edu 37 15 24921181 24921181 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:24921181G>T ENST00000329468.2 + 1 641 c.167G>T c.(166-168)cGt>cTt p.R56L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.R56L(1) CGGAACGCCCGTCGCAGGCCT 0.751000 9 12 1.58986e-06 1.81764e-06 0.361761 1 0 MEF2C 4208 broad.mit.edu 37 5 88100465 88100465 + Missense_Mutation SNP T T G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:88100465T>G ENST00000504921.2 - 3 880 c.208A>C c.(208-210)Acg>Ccg p.T70P MEF2C_ENST00000539796.1_Missense_Mutation_p.T70P|MEF2C_ENST00000514015.1_Missense_Mutation_p.T70P|MEF2C_ENST00000424173.2_Missense_Mutation_p.T70P|MEF2C_ENST00000514028.1_Missense_Mutation_p.T70P|MEF2C_ENST00000340208.5_Missense_Mutation_p.T70P|MEF2C_ENST00000437473.2_Missense_Mutation_p.T70P|MEF2C_ENST00000506554.1_Missense_Mutation_p.T70P|MEF2C_ENST00000510942.1_Missense_Mutation_p.T70P|MEF2C_ENST00000508569.1_Missense_Mutation_p.T70P Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 70 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.T70P(3) breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TTGTACTCCGTGTACTTGAGA 0.547000 HNSCC(66;0.2) 10 32 0 0 0.411799 0 0 DOCK4 9732 broad.mit.edu 37 7 111398842 111398842 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:111398842C>A ENST00000428084.1 - 41 4439 c.4167G>T c.(4165-4167)ttG>ttT p.L1389F DOCK4_ENST00000494651.2_Missense_Mutation_p.L263F|DOCK4_ENST00000437633.1_Missense_Mutation_p.L1380F Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1380 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding p.L1380F(1)|p.L1377F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CATATATCTGCAAATCTAGGA 0.478000 8 41 0.000274275 0.000291829 0.307466 1 0 CTHRC1 115908 broad.mit.edu 37 8 104388028 104388028 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:104388028C>T ENST00000330295.5 + 2 355 c.213C>T c.(211-213)gcC>gcT p.A71A CTHRC1_ENST00000520337.1_Silent_p.A57A|CTHRC1_ENST00000415886.2_Silent_p.A71A NM_138455.3 NP_612464.1 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 71 Collagen-like. collagen p.A71A(1) endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) GCCCTGGGGCCAATGGCATTC 0.522000 69 302 0 0 0.870114 0 0 MIR516B1 574490 broad.mit.edu 37 19 54240145 54240145 + RNA SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:54240145G>C ENST00000385211.1 + 0 47 NR_030212.1 TCTGTTTTGTGAAAGAAAAGA 0.413000 42 80 0 0 0.864702 0 0 FOXP4 116113 broad.mit.edu 37 6 41556419 41556419 + Missense_Mutation SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:41556419A>G ENST00000373060.1 + 9 1473 c.1015A>G c.(1015-1017)Aca>Gca p.T339A FOXP4_ENST00000307972.4_Missense_Mutation_p.T339A|FOXP4_ENST00000373063.3_Missense_Mutation_p.T338A|FOXP4_ENST00000373057.3_Missense_Mutation_p.T337A|FOXP4_ENST00000409208.1_Missense_Mutation_p.T339A NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 339 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development 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.T339A(1)|p.T338A(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) TGACCGGAGTACAGCCCAGTG 0.627000 60 94 0 0 0.870114 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374332 95374332 + RNA SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:95374332G>T ENST00000494840.1 - 0 1529 NR_077228.1 ACACCCCATGGGGTAGCCGGT 0.438000 31 81 2.09667e-21 3.34628e-21 0.788014 1 0 SMARCD1 6602 broad.mit.edu 37 12 50490683 50490683 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:50490683C>T ENST00000394963.4 + 11 1718 c.1320C>T c.(1318-1320)ttC>ttT p.F440F SMARCD1_ENST00000548573.1_Silent_p.F238F|SMARCD1_ENST00000381513.4_Intron NM_003076.4 NP_003067.3 Q96GM5 SMRD1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 440 Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity p.F401F(1) NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 18 AGCGGGAGTTCATGCTGAGCT 0.468000 28 63 0 0 0.729181 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280957 105280957 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:105280957A>T ENST00000327674.4 - 1 428 c.93T>A c.(91-93)caT>caA p.H31Q SERPINA7_ENST00000372563.1_Missense_Mutation_p.H31Q P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 31 CH -> DS (in Ref. 7; AA sequence). regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.H31Q(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GTTGGGATGAATGGCAGGCTG 0.458000 78 161 0 0 0.870114 0 0 TIAM2 26230 broad.mit.edu 37 6 155532366 155532366 + Silent SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:155532366A>T ENST00000461783.3 + 17 4366 c.3093A>T c.(3091-3093)acA>acT p.T1031T TIAM2_ENST00000456144.1_Silent_p.T1031T|TIAM2_ENST00000360366.4_Silent_p.T1055T|TIAM2_ENST00000456877.2_Silent_p.T343T|TIAM2_ENST00000318981.5_Silent_p.T1031T|TIAM2_ENST00000528391.2_Silent_p.T367T|TIAM2_ENST00000529824.2_Silent_p.T1031T|TIAM2_ENST00000367174.2_Silent_p.T407T Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1031 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.T1031T(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) ATATCACAACAGGTCTGAAAA 0.428000 8 53 0 0 0.307466 0 0 PXDN 7837 broad.mit.edu 37 2 1691403 1691403 + Splice_Site SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:1691403C>A ENST00000252804.4 - 4 467 c.e4+1 NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.?(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GGGGCACTTACAGTTGCTCTA 0.463000 10 11 6.40141e-05 6.94066e-05 0.387290 1 0 TMTC1 83857 broad.mit.edu 37 12 29736464 29736464 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:29736464A>T ENST00000256062.5 - 8 1443 c.970T>A c.(970-972)Tgc>Agc p.C324S TMTC1_ENST00000381224.2_Missense_Mutation_p.C386S|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.C494S|TMTC1_ENST00000552618.1_Missense_Mutation_p.C494S|TMTC1_ENST00000539277.1_Missense_Mutation_p.C432S NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 432 integral to membrane binding p.C324S(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AGCCAAGTGCAGAGCTTGCTC 0.498000 26 42 0 0 0.681144 0 0 OR5H15 403274 broad.mit.edu 37 3 97887954 97887954 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:97887954C>A ENST00000356526.2 + 1 411 c.411C>A c.(409-411)acC>acA p.T137T NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T137T(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CCATTATGACCAATGGACTGT 0.378000 16 148 1.75199e-13 2.45709e-13 0.717897 1 0 ZNF638 27332 broad.mit.edu 37 2 71650950 71650950 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:71650950G>A ENST00000409544.1 + 22 4936 c.4306G>A c.(4306-4308)Gaa>Aaa p.E1436K ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.E376K|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1436K NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1436 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding p.E1436K(1) 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 TTCAGCCAAGGAATTTGGTCT 0.418000 5 75 0 0 0.184627 0 0 GCAT 23464 broad.mit.edu 37 22 38211173 38211173 + Missense_Mutation SNP C C T rs142152598 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr22:38211173C>T ENST00000323205.6 + 5 758 c.695C>T c.(694-696)tCc>tTc p.S232F GCAT_ENST00000248924.6_Missense_Mutation_p.S206F NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 206 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups p.S206F(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GGGGCCTTTTCCATGGATGGC 0.587000 5 48 0 0 0.335167 0 0 SLC12A9 56996 broad.mit.edu 37 7 100460369 100460369 + Missense_Mutation SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:100460369A>G ENST00000354161.3 + 13 1903 c.1778A>G c.(1777-1779)cAg>cGg p.Q593R SLC12A9_ENST00000275729.3_Missense_Mutation_p.Q504R|SLC12A9_ENST00000540482.1_Missense_Mutation_p.Q593R|SLC12A9_ENST00000415287.1_Missense_Mutation_p.Q504R|SLC12A9_ENST00000428758.1_Missense_Mutation_p.Q593R NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 593 integral to membrane|plasma membrane cation:chloride symporter activity p.Q593R(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) GACCGTGCCCAGGTGAAGGCT 0.607000 59 105 0 0 0.870114 0 0 C2orf76 130355 broad.mit.edu 37 2 120069237 120069237 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:120069237G>A ENST00000409466.2 - 6 786 c.265C>T c.(265-267)Ctg>Ttg p.L89L C2orf76_ENST00000409523.1_Silent_p.L89L|C2orf76_ENST00000334816.7_Silent_p.L89L|C2orf76_ENST00000409877.1_Silent_p.L89L Q3KRA6 CB076_HUMAN chromosome 2 open reading frame 76 89 p.L89L(1) large_intestine(1)|lung(3)|pancreas(1) 5 TCTTTCAGCAGGAGTCTTTCG 0.463000 11 185 0 0 0.435327 0 0 MSGN1 343930 broad.mit.edu 37 2 17998016 17998016 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:17998016G>T ENST00000281047.3 + 1 254 c.231G>T c.(229-231)ggG>ggT p.G77G NM_001105569.1 NP_001099039.1 A6NI15 MSGN1_HUMAN mesogenin 1 77 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.G77G(1) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCAGCAGTGGGGGCAGCGAAG 0.637000 13 70 2.32078e-09 2.94433e-09 0.479597 1 0 ELAVL2 1993 broad.mit.edu 37 9 23692846 23692846 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:23692846C>A ENST00000397312.2 - 7 1063 c.789G>T c.(787-789)ttG>ttT p.L263F ELAVL2_ENST00000223951.6_Missense_Mutation_p.L250F|ELAVL2_ENST00000544538.1_Missense_Mutation_p.L263F|ELAVL2_ENST00000380117.1_Missense_Mutation_p.L263F|ELAVL2_ENST00000380110.4_Missense_Mutation_p.L293F NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 263 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding p.L263F(1) breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TAATTCCAGCCAAACTGGTCA 0.428000 26 73 1.42536e-11 1.91487e-11 0.681144 1 0 SLC22A16 85413 broad.mit.edu 37 6 110763979 110763979 + Splice_Site SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:110763979C>A ENST00000368919.3 - 4 718 c.e4-1 SLC22A16_ENST00000439654.1_Splice_Site|SLC22A16_ENST00000330550.4_Splice_Site|SLC22A16_ENST00000456137.2_Splice_Site NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity p.?(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CACTTGCAACCTGAAAAACAA 0.388000 36 64 5.78141e-17 8.67212e-17 0.864702 1 0 C5orf28 64417 broad.mit.edu 37 5 43446488 43446488 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:43446488G>A ENST00000500337.2 - 5 815 c.484C>T c.(484-486)Cgt>Tgt p.R162C C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C|C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C Q0VDI3 CE028_HUMAN chromosome 5 open reading frame 28 162 integral to membrane p.R162C(2) breast(1)|kidney(1)|large_intestine(2)|lung(5) 9 Lung NSC(6;2.07e-05) AAACCATGACGAATCCCATCT 0.388000 17 131 0 0 0.500413 0 0 ASTN2 23245 broad.mit.edu 37 9 119976664 119976664 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:119976664C>A ENST00000313400.4 - 3 1088 c.988G>T c.(988-990)Gaa>Taa p.E330* ASTN2_ENST00000361209.2_Nonsense_Mutation_p.E330*|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.E330*|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 330 integral to membrane p.E330*(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACCTTCTCTTCCCCTGGATGT 0.572000 25 164 9.39395e-14 1.32445e-13 0.706142 1 0 OR1J4 26219 broad.mit.edu 37 9 125281954 125281954 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:125281954T>A ENST00000340750.1 + 1 535 c.535T>A c.(535-537)Tgt>Agt p.C179S NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C179S(1) large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 CCATTTCTTCTGTGATCTTGT 0.507000 24 92 0 0 0.654019 0 0 SHROOM4 57477 broad.mit.edu 37 X 50350458 50350458 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:50350458C>T ENST00000376020.2 - 6 3709 c.3684G>A c.(3682-3684)gaG>gaA p.E1228E SHROOM4_ENST00000460112.3_Silent_p.E1112E|SHROOM4_ENST00000289292.7_Silent_p.E1228E NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1228 ASD2. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding p.E1228E(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GCTGAGCCTGCTCAGGTTGAG 0.502000 23 50 0 0 0.654019 0 0 MUC5B 727897 broad.mit.edu 37 11 1262982 1262982 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:1262982C>A ENST00000447027.1 + 31 4939 c.4881C>A c.(4879-4881)acC>acA p.T1627T MUC5B_ENST00000529681.1_Silent_p.T1624T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1624 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.T1627T(1)|p.T1624T(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACCACCACCCAGGCCCTGT 0.677000 6 7 0.000442599 0.000469673 0.335167 1 0 CXorf36 79742 broad.mit.edu 37 X 45013320 45013320 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:45013320C>T ENST00000398000.2 - 4 870 c.796G>A c.(796-798)Gac>Aac p.D266N CXorf36_ENST00000477281.1_5'UTR NM_176819.3 NP_789789.2 Q9H7Y0 CX036_HUMAN chromosome X open reading frame 36 266 extracellular region p.D266N(1) endometrium(1)|large_intestine(2)|lung(4) 7 TAGGCAAGGTCGGCTGCCTGA 0.562000 16 94 0 0 0.520397 0 0 TRPV5 56302 broad.mit.edu 37 7 142627249 142627249 + Missense_Mutation SNP T T C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:142627249T>C ENST00000265310.1 - 3 601 c.253A>G c.(253-255)Ata>Gta p.I85V TRPV5_ENST00000442623.1_Missense_Mutation_p.I85V NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 85 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.I85V(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) AGGGCTGCTATGTGCAGCGCC 0.567000 9 107 0 0 0.361761 0 0 POMZP3 22932 broad.mit.edu 37 7 76247599 76247599 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:76247599G>A ENST00000310842.4 - 4 930 c.246C>T c.(244-246)ctC>ctT p.L82L AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Silent_p.L82L NM_012230.3 NP_036362.3 Q6PJE2 POZP3_HUMAN POM121 and ZP3 fusion 82 p.L82L(2) kidney(3)|lung(2) 5 Myeloproliferative disorder(862;0.204) AGGCATCAGTGAGACCGTCGA 0.532000 12 186 0 0 0.639603 0 0 GPR158 57512 broad.mit.edu 37 10 25887278 25887278 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:25887278G>T ENST00000376351.3 + 11 3082 c.2723G>T c.(2722-2724)aGc>aTc p.S908I GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 908 integral to membrane|plasma membrane G-protein coupled receptor activity p.S908I(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GTCATAGCAAGCGCCAAGGAG 0.478000 50 205 8.44121e-28 1.46437e-27 0.870114 1 0 OR5M8 219484 broad.mit.edu 37 11 56258337 56258337 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:56258337G>T ENST00000327216.2 - 1 534 c.510C>A c.(508-510)ccC>ccA p.P170P NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P170P(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TAATTTCATTGGGGCCACAGA 0.498000 18 99 2.35188e-11 3.14372e-11 0.539581 1 0 HAX1 10456 broad.mit.edu 37 1 154245987 154245987 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:154245987G>A ENST00000328703.7 + 2 442 c.229G>A c.(229-231)Gat>Aat p.D77N HAX1_ENST00000457918.2_Missense_Mutation_p.D29N|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Missense_Mutation_p.D77N NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 77 actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding p.D77N(1) cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACGTTTCCACGATAACTTCGG 0.547000 Kostmann syndrome 7 83 0 0 0.278610 0 0 KCNH5 27133 broad.mit.edu 37 14 63246455 63246455 + Silent SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:63246455C>G ENST00000322893.7 - 10 2278 c.2010G>C c.(2008-2010)ctG>ctC p.L670L KCNH5_ENST00000394968.1_Silent_p.L612L|KCNH5_ENST00000420622.2_Intron NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 670 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.L670L(2)|p.L612L(2) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CCCGTTTCCTCAGATTGCAAG 0.393000 19 139 0 0 0.575678 0 0 SUN1 23353 broad.mit.edu 37 7 888109 888109 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:888109C>T ENST00000456758.2 + 9 887 c.887C>T c.(886-888)tCa>tTa p.S296L SUN1_ENST00000389574.3_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Intron O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 0 EMD-binding.|SYNE2-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TACACTGCATCATCTTTTTCA 0.338000 63 184 0 0 0.870114 0 0 ABCA9 10350 broad.mit.edu 37 17 66982438 66982438 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:66982438C>T ENST00000340001.4 - 32 4286 c.4075G>A c.(4075-4077)Gaa>Aaa p.E1359K ABCA9_ENST00000370732.2_Missense_Mutation_p.E1359K|ABCA9_ENST00000453985.2_Missense_Mutation_p.E1321K NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1359 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity p.E1359K(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CCCAGGGGTTCCCCTCCACCG 0.507000 12 83 0 0 0.435327 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42861483 42861483 + Silent SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr21:42861483C>G ENST00000398585.3 - 4 447 c.387G>C c.(385-387)ggG>ggC p.G129G TMPRSS2_ENST00000332149.5_Silent_p.G92G|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Silent_p.G92G NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 92 LDL-receptor class A. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity p.G92G(2)|p.G129G(1) TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) CGAGGAAGGTCCCCAGGGTCA 0.557000 T """ERG, ETV1, ETV4, ETV5""" prostate 23 32 0 0 0.624587 0 0 MUC16 94025 broad.mit.edu 37 19 9046284 9046284 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:9046284T>A ENST00000397910.4 - 5 35550 c.35347A>T c.(35347-35349)Agt>Tgt p.S11783C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11785 Thr-rich. G -> E (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S11783C(1)|p.S7416C(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AATGTTTTACTTGTCTCTGTT 0.488000 20 81 0 0 0.592651 0 0 SPAG6 9576 broad.mit.edu 37 10 22700044 22700044 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:22700044G>A ENST00000376603.2 + 10 1769 c.1627G>A c.(1627-1629)Ggt>Agt p.G543S SPAG6_ENST00000538630.1_Missense_Mutation_p.G442S|SPAG6_ENST00000376601.1_Missense_Mutation_p.G228S|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376624.3_Missense_Mutation_p.G467S|SPAG6_ENST00000313311.6_Intron O75602 SPAG6_HUMAN sperm associated antigen 6 467 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding p.G467I(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 AGCAGAACCTGGTTCTCTCCT 0.408000 24 78 0 0 0.639603 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580418 140580418 + Silent SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:140580418A>T ENST00000354757.3 + 1 1071 c.1071A>T c.(1069-1071)ccA>ccT p.P357P PCDHB11_ENST00000536699.1_5'UTR NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 357 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.P357P(1) NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCCAATCCCAGAAAATACGC 0.418000 25 127 0 0 0.654019 0 0 WDR7 23335 broad.mit.edu 37 18 54694412 54694412 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr18:54694412G>T ENST00000254442.3 + 28 4658 c.4447G>T c.(4447-4449)Ggg>Tgg p.G1483W WDR7_ENST00000589935.1_Missense_Mutation_p.G60W|WDR7_ENST00000357574.3_Missense_Mutation_p.G1450W NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1483 p.G1483W(1) NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GGCCCATGACGGGAAGGAGCA 0.597000 11 4 0.00010058 0.00010861 0.411799 1 0 HS3ST2 9956 broad.mit.edu 37 16 22926287 22926287 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:22926287G>C ENST00000261374.3 + 2 942 c.508G>C c.(508-510)Gag>Cag p.E170Q NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 170 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity p.E170Q(1) breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) CAGGACCCTCGAGAGCCAGAT 0.572000 19 137 0 0 0.575678 0 0 TRIM50 135892 broad.mit.edu 37 7 72727232 72727232 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:72727232G>A ENST00000333149.2 - 7 1349 c.1149C>T c.(1147-1149)ggC>ggT p.G383G TRIM50_ENST00000453152.1_Silent_p.G383G NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 383 B30.2/SPRY. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding p.G383G(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 TCAGCCACACGCCGTGCTCGG 0.697000 6 3 0 0 0.248553 0 0 SF1 7536 broad.mit.edu 37 11 64536732 64536732 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:64536732C>T ENST00000377390.3 - 7 1079 c.742G>A c.(742-744)Gct>Act p.A248T SF1_ENST00000489544.1_5'UTR|SF1_ENST00000433274.2_Missense_Mutation_p.A222T|SF1_ENST00000422298.2_Missense_Mutation_p.A133T|SF1_ENST00000377387.1_Missense_Mutation_p.A373T|SF1_ENST00000377394.3_Missense_Mutation_p.A248T|SF1_ENST00000334944.5_Missense_Mutation_p.A248T|SF1_ENST00000227503.9_Missense_Mutation_p.A248T NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 248 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding p.A248T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 TTTAAGCGAGCCAACTCCCGA 0.458000 21 90 0 0 0.624587 0 0 ANO5 203859 broad.mit.edu 37 11 22296152 22296152 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:22296152G>T ENST00000324559.8 + 20 2590 c.2273G>T c.(2272-2274)cGt>cTt p.R758L ANO5_ENST00000532043.1_3'UTR NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 758 R -> C (in MMD3). chloride channel complex|endoplasmic reticulum membrane chloride channel activity p.R758L(1) breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATCATTCCCCGTCTAGTTTAC 0.363000 88 152 1.45855e-51 2.81821e-51 0.870114 1 0 CHAT 1103 broad.mit.edu 37 10 50827905 50827905 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:50827905C>A ENST00000395562.2 + 4 745 c.276C>A c.(274-276)ggC>ggA p.G92G CHAT_ENST00000455728.2_Silent_p.G56G|CHAT_ENST00000351556.3_Silent_p.G56G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Silent_p.G56G|CHAT_ENST00000339797.1_Silent_p.G56G|CHAT_ENST00000337653.2_Silent_p.G174G NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 174 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity p.L175I(1) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCCCTGGTGGCCTCGGCGAGA 0.617000 7 10 1.08611e-07 1.30924e-07 0.387290 1 0 SYT10 341359 broad.mit.edu 37 12 33529782 33529782 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:33529782G>T ENST00000228567.3 - 7 1851 c.1555C>A c.(1555-1557)Cca>Aca p.P519T SYT10_ENST00000535526.1_Missense_Mutation_p.P338T NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 519 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.P519T(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GTGGAAGGTGGTTTAGGAGAA 0.408000 11 89 4.3838e-07 5.1521e-07 0.435327 1 0 USP39 10713 broad.mit.edu 37 2 85875930 85875930 + Nonstop_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:85875930G>C ENST00000323701.6 + 13 1707 c.1697G>C c.(1696-1698)tGa>tCa p.*566S USP39_ENST00000450066.2_Nonstop_Mutation_p.*463S|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Nonstop_Mutation_p.*537S|USP39_ENST00000409766.3_3'UTR|USP39_ENST00000409470.1_Nonstop_Mutation_p.*566S NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 0 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding p.*566S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CAGGGGGCTTGAAGGAGGCGT 0.488000 OREG0014749 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 230 0 0 0.870114 0 0 MAN1B1 11253 broad.mit.edu 37 9 140001223 140001223 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:140001223G>T ENST00000371589.4 + 10 1601 c.1528G>T c.(1528-1530)Gtg>Ttg p.V510L MAN1B1_ENST00000474902.1_Missense_Mutation_p.V213L|MAN1B1_ENST00000540391.1_3'UTR NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 510 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.V510L(1) autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) GCTCACCTTTGTGGGGGAGCT 0.632000 5 45 2.0095e-06 2.29083e-06 0.248553 1 0 ATP2A1 487 broad.mit.edu 37 16 28912103 28912103 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:28912103C>A ENST00000395503.4 + 15 2150 c.1966C>A c.(1966-1968)Cga>Aga p.R656R ATP2A1_ENST00000536376.1_Silent_p.R531R|ATP2A1_ENST00000357084.3_Silent_p.R656R NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 656 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity p.R656R(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 CTACACGGGCCGAGAGTTCGA 0.627000 10 70 5.50884e-06 6.17423e-06 0.411799 1 0 MED12L 116931 broad.mit.edu 37 3 150840700 150840700 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:150840700C>A ENST00000474524.1 + 3 373 c.335C>A c.(334-336)gCa>gAa p.A112E MED12L_ENST00000309237.4_Missense_Mutation_p.A112E|MED12L_ENST00000422248.2_Missense_Mutation_p.A112E|MED12L_ENST00000273432.4_Missense_Mutation_p.A112E NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 112 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.A112E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCCCAGAGTGCAATTCATAGT 0.358000 11 48 1.58986e-06 1.81764e-06 0.361761 1 0 IL17F 112744 broad.mit.edu 37 6 52103574 52103574 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:52103574T>A ENST00000336123.4 - 2 315 c.208A>T c.(208-210)Atg>Ttg p.M70L NM_052872.3 NP_443104.1 Q96PD4 IL17F_HUMAN interleukin 17F 70 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity p.M70L(1) NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) TTACGTGACATGGAAACGCGC 0.443000 11 58 0 0 0.411799 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71282454 71282454 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:71282454G>A ENST00000335793.3 - 2 580 c.186C>T c.(184-186)ggC>ggT p.G62G CDC42EP4_ENST00000439510.2_Intron|CDC42EP4_ENST00000581014.1_Intron Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 62 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding p.G62G(1) cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) CCAAGGACTCGCCGTCGGGCT 0.647000 11 62 0 0 0.479597 0 0 BIRC6 57448 broad.mit.edu 37 2 32626377 32626377 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:32626377G>A ENST00000421745.2 + 7 1315 c.1181G>A c.(1180-1182)gGg>gAg p.G394E NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 394 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.G366E(1)|p.G394E(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TTTGGGTCGGGGAGCTGCCCT 0.438000 53 282 0 0 0.870114 0 0 CKB 1152 broad.mit.edu 37 14 103986586 103986586 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:103986586G>A ENST00000348956.2 - 7 1197 c.840C>T c.(838-840)atC>atT p.I280I NM_001823.4 NP_001814.2 P12277 KCRB_HUMAN creatine kinase, brain 280 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity p.I280I(1) lung(2)|prostate(1) 3 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) GGCAGGTGAGGATGTAGCCCA 0.557000 7 59 0 0 0.307466 0 0 ST18 9705 broad.mit.edu 37 8 53126806 53126806 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:53126806C>T ENST00000276480.7 - 7 695 c.12G>A c.(10-12)gaG>gaA p.E4E NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 4 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E4E(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TATCTTCAGCCTCTGCATCCA 0.418000 74 95 0 0 0.870114 0 0 HCN3 57657 broad.mit.edu 37 1 155254545 155254545 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:155254545G>A ENST00000368358.3 + 4 1094 c.1086G>A c.(1084-1086)gaG>gaA p.E362E HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 362 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.E362E(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGTACCAGGAGAAGGTCAGCA 0.597000 16 39 0 0 0.557998 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31485912 31485912 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:31485912C>T ENST00000394863.3 + 7 678 c.548C>T c.(547-549)cCg>cTg p.P183L TGFB1I1_ENST00000567607.1_Missense_Mutation_p.P166L|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.P166L|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.P166L NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 183 Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding p.P166L(1)|p.P183L(1) lung(8)|upper_aerodigestive_tract(1) 9 ACTCAGCCACCGGTGGTGAGC 0.607000 12 41 0 0 0.539581 0 0 HAS2 3037 broad.mit.edu 37 8 122641153 122641153 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:122641153G>T ENST00000303924.4 - 2 965 c.428C>A c.(427-429)tCa>tAa p.S143* NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 143 integral to plasma membrane hyaluronan synthase activity p.S143*(1) HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) ATAAGTGGCTGATTTGTCTCT 0.448000 11 583 0.000673444 0.000711799 0.361761 1 0 TNFRSF8 943 broad.mit.edu 37 1 12144556 12144556 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:12144556C>A ENST00000263932.2 + 2 321 c.99C>A c.(97-99)ccC>ccA p.P33P TNFRSF8_ENST00000417814.2_Intron NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 33 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) ATGGAAACCCCAGCCACTACT 0.587000 44 48 5.7616e-29 1.01272e-28 0.870114 1 0 DYSF 8291 broad.mit.edu 37 2 71801371 71801371 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:71801371C>A ENST00000258104.3 + 30 3495 c.3218C>A c.(3217-3219)tCt>tAt p.S1073Y DYSF_ENST00000409582.3_Missense_Mutation_p.S1090Y|DYSF_ENST00000394120.2_Missense_Mutation_p.S1074Y|DYSF_ENST00000409366.1_Missense_Mutation_p.S1074Y|DYSF_ENST00000410041.1_Missense_Mutation_p.S1091Y|DYSF_ENST00000410020.3_Missense_Mutation_p.S1091Y|DYSF_ENST00000429174.2_Missense_Mutation_p.S1073Y|DYSF_ENST00000409651.1_Missense_Mutation_p.S1105Y|DYSF_ENST00000413539.2_Missense_Mutation_p.S1104Y|DYSF_ENST00000409744.1_Missense_Mutation_p.S1060Y|DYSF_ENST00000409762.1_Missense_Mutation_p.S1090Y NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1073 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.S1091Y(1)|p.S1073Y(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GAGTACGCCTCTCTTTTTGGC 0.662000 13 87 1.3612e-06 1.56294e-06 0.479597 1 0 COL11A2 1302 broad.mit.edu 37 6 33144976 33144976 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:33144976G>A ENST00000341947.2 - 24 2225 c.1998C>T c.(1996-1998)atC>atT p.I666I COL11A2_ENST00000374714.1_Silent_p.I640I|COL11A2_ENST00000374712.1_Silent_p.I585I|COL11A2_ENST00000374713.1_Silent_p.I619I|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000395197.1_Silent_p.I606I|COL11A2_ENST00000361917.1_Silent_p.I559I|COL11A2_ENST00000357486.1_Silent_p.I645I|COL11A2_ENST00000374708.4_Silent_p.I580I NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 666 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.I666I(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CATGAGGGCCGATGGCACCCT 0.547000 48 75 0 0 0.870114 0 0 UNC13C 440279 broad.mit.edu 37 15 54919052 54919052 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:54919052G>T ENST00000545554.1 + 32 6386 c.6386G>T c.(6385-6387)gGg>gTg p.G2129V UNC13C_ENST00000260323.11_Missense_Mutation_p.G2129V|UNC13C_ENST00000537900.1_Missense_Mutation_p.G2127V|UNC13C_ENST00000539562.2_Missense_Mutation_p.G50V Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2129 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.G2129V(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AATCGACCAGGGGCTTATGAA 0.378000 10 40 6.42651e-13 8.93442e-13 0.387290 1 0 HBG2 3048 broad.mit.edu 37 11 5274632 5274632 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:5274632G>T ENST00000380259.2 - 8 1559 c.319C>A c.(319-321)Ctg>Atg p.L107M HBG2_ENST00000336906.4_Missense_Mutation_p.L107M|HBG2_ENST00000380252.1_Missense_Mutation_p.L97M hemoglobin, gamma G p.L107M(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATTTCCCAGGAGCTGTTGA 0.517000 32 65 1.30916e-28 2.29104e-28 0.870114 1 0 POLR2D 5433 broad.mit.edu 37 2 128608189 128608189 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:128608189C>T ENST00000272645.4 - 3 381 c.325G>A c.(325-327)Gag>Aag p.E109K POLR2D_ENST00000409698.1_Missense_Mutation_p.E71K|POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409955.1_Intron NM_004805.3 NP_004796.1 O15514 RPB4_HUMAN polymerase (RNA) II (DNA directed) polypeptide D 109 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|nucleotide binding p.E109K(1) large_intestine(1)|lung(4)|urinary_tract(1) 6 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0675) TTGGACTCCTCAGCAGTCTCT 0.383000 21 284 0 0 0.624587 0 0 KMT2A 4297 broad.mit.edu 37 11 118376994 118376994 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:118376994G>C ENST00000534358.1 + 27 10410 c.10387G>C c.(10387-10389)Gcc>Ccc p.A3463P KMT2A_ENST00000354520.4_Missense_Mutation_p.A3422P|KMT2A_ENST00000389506.5_Missense_Mutation_p.A3460P NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.A3460P(1)|p.A3463P(1) CCAGCTCCTTGCCAGCAAAAC 0.527000 27 117 0 0 0.706142 0 0 EPB41L1 2036 broad.mit.edu 37 20 34776397 34776397 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:34776397C>G ENST00000338074.2 + 9 1163 c.1002C>G c.(1000-1002)ttC>ttG p.F334L EPB41L1_ENST00000373950.2_Missense_Mutation_p.F237L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.F334L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.F272L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.F303L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.F272L NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 334 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity p.F334L(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GGAGTAACTTCTATATCAAGA 0.557000 9 54 0 0 0.307466 0 0 NEURL4 84461 broad.mit.edu 37 17 7226812 7226812 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:7226812C>A ENST00000399464.2 - 14 2424 c.2409G>T c.(2407-2409)tgG>tgT p.W803C NEURL4_ENST00000570460.1_Missense_Mutation_p.W781C|NEURL4_ENST00000315614.7_Missense_Mutation_p.W803C NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 p.W803F(2) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACCTCAGCATCCATGTGTCAT 0.572000 24 24 7.87624e-14 1.1144e-13 0.639603 1 0 MCRS1 10445 broad.mit.edu 37 12 49959936 49959936 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:49959936C>G ENST00000550165.1 - 4 339 c.73G>C c.(73-75)Gag>Cag p.E25Q MCRS1_ENST00000357123.4_Missense_Mutation_p.E38Q|MCRS1_ENST00000343810.4_Missense_Mutation_p.E25Q|MCRS1_ENST00000546244.1_Intron Q96EZ8 MCRS1_HUMAN microspherule protein 1 25 Ser-rich. DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding p.E38Q(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 AGTGACTCCTCATCCTCTGAG 0.587000 25 43 0 0 0.870114 0 0 COL14A1 7373 broad.mit.edu 37 8 121210169 121210169 + Splice_Site SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:121210169G>A ENST00000297848.3 + 7 982 c.712_splice c.e7+1 p.G238_splice COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Splice_Site_p.G238_splice|COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000537875.1_Splice_Site_p.G238_splice NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 238 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.G238S(1) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TACACTAACAGGTATGTTTTG 0.333000 10 99 0 0 0.387290 0 0 FAT3 120114 broad.mit.edu 37 11 92620196 92620196 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:92620196C>T ENST00000298047.6 + 24 12985 c.12968C>T c.(12967-12969)aCc>aTc p.T4323I FAT3_ENST00000525166.1_Missense_Mutation_p.T4173I|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.T4323I|FAT3_ENST00000533797.1_Missense_Mutation_p.T658I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4323 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.T4323I(2)|p.T898I(1) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGAGAAGTGACCTGCTTTGCA 0.473000 TCGA Ovarian(4;0.039) 6 13 0 0 0.217242 0 0 LRRC6 23639 broad.mit.edu 37 8 133650261 133650261 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:133650261C>A ENST00000519595.1 - 4 447 c.349G>T c.(349-351)Gag>Tag p.E117* LRRC6_ENST00000518642.1_Nonsense_Mutation_p.E117*|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Nonsense_Mutation_p.E117* Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 117 cytoplasm p.E117*(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AGAAAGAGCTCCTTCAGATGG 0.438000 89 94 1.72036e-36 3.17056e-36 0.870114 1 0 CLLU1OS 574016 broad.mit.edu 37 12 92814926 92814926 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:92814926G>A ENST00000378487.2 - 3 167 c.166C>T c.(166-168)Cca>Tca p.P56S CLLU1OS_ENST00000538965.1_Missense_Mutation_p.P56S NM_001025232.1 NP_001020403.1 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 opposite strand 56 p.P56S(1) large_intestine(1)|lung(7) 8 TCATAGTTTGGAGGTAAACTT 0.418000 30 206 0 0 0.717897 0 0 SP100 6672 broad.mit.edu 37 2 231331929 231331929 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:231331929G>T ENST00000264052.5 + 13 1645 c.1291_splice c.e13+1 p.K430_splice SP100_ENST00000409112.1_Splice_Site_p.K430_splice|SP100_ENST00000341950.4_Splice_Site_p.K430_splice|SP100_ENST00000409897.1_Splice_Site_p.K395_splice|SP100_ENST00000427101.2_Intron|SP100_ENST00000340126.4_Splice_Site_p.K430_splice|SP100_ENST00000409824.1_Splice_Site_p.K405_splice|SP100_ENST00000409341.1_Splice_Site_p.K430_splice NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 430 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding p.K430N(2)|p.K430K(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ATGGTGAGAAGGGTAAGAACA 0.557000 22 113 2.89027e-11 3.83129e-11 0.624587 1 0 DLX5 1749 broad.mit.edu 37 7 96651649 96651649 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:96651649C>A ENST00000222598.4 - 2 861 c.388G>T c.(388-390)Gtg>Ttg p.V130L DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.V130L NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 130 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.M129_V130>IL(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) TTGCCATTCACCATTCTCACC 0.463000 17 167 0.000566183 0.000600019 0.520397 1 0 PPM1B 5495 broad.mit.edu 37 2 44428764 44428764 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:44428764G>C ENST00000378551.2 + 2 838 c.426G>C c.(424-426)aaG>aaC p.K142N PPM1B_ENST00000409895.4_Missense_Mutation_p.K142N|PPM1B_ENST00000409432.3_Missense_Mutation_p.K142N|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000282412.4_Missense_Mutation_p.K142N NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 142 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity p.K142N(3) kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTTCACCTAAGCATATCTACT 0.418000 55 127 0 0 0.870114 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60351469 60351469 + Silent SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:60351469A>G ENST00000602932.1 - 2 222 c.192T>C c.(190-192)cgT>cgC p.R64R TBC1D3P2_ENST00000581291.1_RNA GACCTCTACCACGTCCATCCT 0.537000 78 442 0 0 0.870114 0 0 SYNE1 23345 broad.mit.edu 37 6 152651069 152651069 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:152651069C>A ENST00000367255.5 - 78 15352 c.14751G>T c.(14749-14751)ctG>ctT p.L4917L SYNE1_ENST00000265368.4_Silent_p.L4917L|SYNE1_ENST00000341594.5_Silent_p.L4664L|SYNE1_ENST00000423061.1_Silent_p.L4846L|SYNE1_ENST00000448038.1_Silent_p.L4846L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4917 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.L4917L(2)|p.L4846L(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGATGTCCTGCAGGTTGAGGT 0.502000 HNSCC(10;0.0054) 44 188 5.20837e-25 8.75006e-25 0.840704 1 0 VCAN 1462 broad.mit.edu 37 5 82816655 82816655 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:82816655C>A ENST00000265077.3 + 7 3095 c.2530C>A c.(2530-2532)Cca>Aca p.P844T VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P844T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P796T NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 844 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.P844T(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TAAAGACATCCCAAGTTTCAC 0.433000 30 119 3.99451e-17 6.02574e-17 0.740014 1 0 ARAP3 64411 broad.mit.edu 37 5 141059692 141059692 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:141059692C>A ENST00000239440.4 - 2 427 c.362G>T c.(361-363)gGg>gTg p.G121V ARAP3_ENST00000508305.1_Missense_Mutation_p.G43V NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 121 Pro-rich. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding p.G121V(1) NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TCCTGGTCCCCCGAGGGCTGG 0.647000 33 185 1.66425e-11 2.23205e-11 0.804634 1 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29974692 29974692 + RNA SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:29974692C>A ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TCGACAGTGACGCCGTGAGTC 0.667000 5 7 0.00307968 0.00321673 0.278610 1 0 PKD1 5310 broad.mit.edu 37 16 2158369 2158369 + Missense_Mutation SNP C C A rs148069029 byFrequency TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:2158369C>A ENST00000262304.4 - 15 7007 c.6799G>T c.(6799-6801)Gtg>Ttg p.V2267L PKD1_ENST00000423118.1_Missense_Mutation_p.V2267L NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2267 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding p.V2267L(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCTGACCACACGCGGTATGAG 0.642000 27 63 3.65163e-15 5.30783e-15 0.706142 1 0 EEA1 8411 broad.mit.edu 37 12 93213135 93213135 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:93213135C>A ENST00000322349.8 - 14 1941 c.1677G>T c.(1675-1677)gaG>gaT p.E559D NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 559 Gln/Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding p.E559D(1) endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 GAACAGCAGTCTCTCCTTCAC 0.308000 17 126 2.37509e-13 3.31931e-13 0.592651 1 0 CLSTN2 64084 broad.mit.edu 37 3 140285095 140285095 + Nonstop_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:140285095G>T ENST00000458420.3 + 17 3058 c.2868G>T c.(2866-2868)taG>taT p.*956Y NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 0 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.*956Y(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TCCCCTACTAGTGCCCAGGGG 0.577000 HNSCC(16;0.037) 4 6 0.00024832 0.000264919 0.150653 1 0 CACNG6 59285 broad.mit.edu 37 19 54515405 54515405 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:54515405G>T ENST00000252729.2 + 4 1335 c.745G>T c.(745-747)Ggg>Tgg p.G249W CACNG6_ENST00000352529.1_Missense_Mutation_p.G178W|CACNG6_ENST00000346968.2_Missense_Mutation_p.G203W NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 249 voltage-gated calcium channel complex voltage-gated calcium channel activity p.G249W(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CTGGCCCTGGGGGTCCCTCTG 0.667000 24 69 3.6726e-16 5.44747e-16 0.667858 1 0 CYP24A1 1591 broad.mit.edu 37 20 52779269 52779269 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:52779269G>T ENST00000216862.3 - 7 1370 c.977C>A c.(976-978)gCt>gAt p.A326D CYP24A1_ENST00000395954.3_Missense_Mutation_p.A184D|CYP24A1_ENST00000395955.3_Missense_Mutation_p.A326D NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 326 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen p.A326D(1) breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TTCCACCGCAGCCAGCTGGAG 0.418000 29 83 1.62565e-12 2.25612e-12 0.760397 1 0 DPP6 1804 broad.mit.edu 37 7 154429579 154429579 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:154429579C>A ENST00000404039.1 + 6 1071 c.484C>A c.(484-486)Cat>Aat p.H162N DPP6_ENST00000377770.3_Missense_Mutation_p.H226N|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000332007.3_Missense_Mutation_p.H164N NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 226 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CAAAATTCCTCATGGGTAAGA 0.403000 3 15 0.150653 0.152759 0.150653 1 0 ASB15 142685 broad.mit.edu 37 7 123267186 123267186 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:123267186G>T ENST00000451558.1 + 11 1241 c.720G>T c.(718-720)gcG>gcT p.A240A ASB15_ENST00000434204.1_Silent_p.A240A|ASB15_ENST00000451215.1_Silent_p.A240A|ASB15_ENST00000540573.1_Silent_p.A240A|ASB15_ENST00000275699.3_Silent_p.A240A Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 240 intracellular signal transduction p.A240A(1) breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 TTGCTTTGGCGGATGATGGGG 0.498000 69 129 1.04643e-32 1.8723e-32 0.870114 1 0 OR11H4 390442 broad.mit.edu 37 14 20711254 20711254 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:20711254A>T ENST00000315409.2 + 1 357 c.304A>T c.(304-306)Atc>Ttc p.I102F NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I102F(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) GACCAAGGCCATCTCATTTTC 0.438000 57 163 0 0 0.870114 0 0 TKTL2 84076 broad.mit.edu 37 4 164394038 164394038 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:164394038C>A ENST00000280605.3 - 1 1009 c.849G>T c.(847-849)caG>caT p.Q283H NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 283 cytoplasm metal ion binding|transketolase activity p.Q283H(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCTCATTGGTCTGTATCTGAC 0.408000 179 240 1.68116e-76 3.31251e-76 0.870114 1 0 RAG1 5896 broad.mit.edu 37 11 36596358 36596358 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:36596358C>T ENST00000299440.5 + 2 1616 c.1504C>T c.(1504-1506)Cct>Tct p.P502S NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 502 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.P502S(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GATTTTTCAGCCTTTGCATGC 0.507000 Familial Hemophagocytic Lymphohistiocytosis 98 165 0 0 0.870114 0 0 NTRK3 4916 broad.mit.edu 37 15 88476242 88476242 + Splice_Site SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:88476242C>A ENST00000394480.1 - 16 2211 c.e16+1 NTRK3_ENST00000360948.2_Splice_Site|NTRK3_ENST00000542733.2_Splice_Site|NTRK3_ENST00000357724.2_Splice_Site|NTRK3_ENST00000557856.1_Splice_Site|NTRK3_ENST00000355254.2_Splice_Site|NTRK3_ENST00000558676.1_Splice_Site NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.?(2) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TCCTTGCTTACCTGAGGAACT 0.502000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 18 21 8.00594e-06 8.94782e-06 0.557998 1 0 RPLP0 6175 broad.mit.edu 37 12 120636414 120636414 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:120636414G>C ENST00000551150.1 - 5 909 c.594C>G c.(592-594)atC>atG p.I198M RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000228306.4_Missense_Mutation_p.I198M|RPLP0_ENST00000392514.4_Missense_Mutation_p.I198M|RPLP0_ENST00000546989.1_Missense_Mutation_p.I162M P05388 RLA0_HUMAN ribosomal protein, large, P0 198 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome p.I198M(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGGGTTGTAGATGCTGCCAT 0.527000 22 85 0 0 0.624587 0 0 ADCY1 107 broad.mit.edu 37 7 45699649 45699649 + Missense_Mutation SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:45699649A>G ENST00000297323.7 + 7 1338 c.1316A>G c.(1315-1317)cAt>cGt p.H439R ADCY1_ENST00000432715.1_Missense_Mutation_p.H214R NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 439 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding p.H439R(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AGGAAGGTTCATATCACAAAG 0.517000 36 70 0 0 0.804634 0 0 OR7G1 125962 broad.mit.edu 37 19 9226295 9226295 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:9226295C>T ENST00000293614.1 - 1 144 c.145G>A c.(145-147)Gtc>Atc p.V49I OR7G1_ENST00000541538.1_Missense_Mutation_p.V49I Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V49I(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 TCAGAGATGACAGCCAGGAGA 0.493000 58 258 0 0 0.870114 0 0 HNRNPU 3192 broad.mit.edu 37 1 245020932 245020932 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:245020932G>A ENST00000444376.2 - 8 1759 c.1525C>T c.(1525-1527)Ctt>Ttt p.L509F HNRNPU_ENST00000283179.9_Missense_Mutation_p.L528F NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 528 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding p.L509F(1)|p.L528F(1) NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TTTGTGCCAAGAATGTTATAT 0.403000 40 373 0 0 0.847076 0 0 XIRP2 129446 broad.mit.edu 37 2 168099835 168099835 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:168099835G>A ENST00000409195.1 + 9 2022 c.1933G>A c.(1933-1935)Gag>Aag p.E645K XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E645K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E423K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 470 actin cytoskeleton organization cell junction actin binding p.E645K(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAAAATTCCTGAGCTAGCCAG 0.433000 17 54 0 0 0.557998 0 0 CROCC 9696 broad.mit.edu 37 1 17292345 17292345 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:17292345C>T ENST00000375541.5 + 28 4602 c.4533C>T c.(4531-4533)ctC>ctT p.L1511L NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1511 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.L1511L(1) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCGGGGCCCTCCGGGAATTCC 0.667000 18 40 0 0 0.639603 0 0 PINX1 54984 broad.mit.edu 37 8 10622935 10622935 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:10622935C>A ENST00000314787.3 - 7 1082 c.963G>T c.(961-963)aaG>aaT p.K321N PINX1_ENST00000519088.1_3'UTR|SOX7_ENST00000554914.1_Intron|PINX1_ENST00000426190.2_3'UTR|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000553390.1_Intron NM_017884.4 NP_060354.4 PIN2/TERF1 interacting, telomerase inhibitor 1 p.K321N(1) kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201) TCTTCTTCTTCTTTTTCACTA 0.507000 6 20 0.0215528 0.0222211 0.217242 1 0 TTC17 55761 broad.mit.edu 37 11 43465039 43465039 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:43465039G>C ENST00000039989.4 + 17 2430 c.2416G>C c.(2416-2418)Gga>Cga p.G806R TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.G863R NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 806 binding p.G806R(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 AGACTTACAAGGAATACGGGT 0.493000 21 53 0 0 0.654019 0 0 AFTPH 54812 broad.mit.edu 37 2 64778576 64778576 + Splice_Site SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:64778576G>A ENST00000422803.1 + 2 282 c.e2-1 AFTPH_ENST00000238855.7_Splice_Site|AFTPH_ENST00000238856.4_Splice_Site Q6ULP2 AFTIN_HUMAN aftiphilin protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 CTTTTTTACAGGTGTAAATTA 0.338000 27 87 0 0 0.681144 0 0 PHYHIPL 84457 broad.mit.edu 37 10 60994099 60994099 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:60994099G>T ENST00000373880.4 + 2 406 c.142G>T c.(142-144)Gaa>Taa p.E48* PHYHIPL_ENST00000373878.3_Nonsense_Mutation_p.E22* NM_032439.3 NP_115815.2 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein-like 48 p.E48*(1) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 AGCAGAGATGGAAGAACTTCC 0.348000 23 63 7.88262e-20 1.23099e-19 0.654019 1 0 FLNB 2317 broad.mit.edu 37 3 58154384 58154384 + Splice_Site SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:58154384A>T ENST00000295956.4 + 44 7581 c.7417_splice c.e44+1 p.T2472_splice FLNB_ENST00000358537.3_Splice_Site_p.T2448_splice|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000493452.1_Splice_Site_p.T2279_splice|FLNB_ENST00000490882.1_Splice_Site_p.T2503_splice|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Splice_Site_p.T2292_splice|FLNB_ENST00000429972.2_Splice_Site_p.T2461_splice|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Splice_Site_p.T2431_splice NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2472 Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity). actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding p.T2472T(1)|p.T2503T(1) NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCAAGGTGACAGGTAACGAAC 0.502000 10 29 0 0 0.335167 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102291945 102291945 + RNA SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:102291945G>T ENST00000561463.1 + 0 711 p.G85W(1) ACCGCCTCATGGGGGTAGGCG 0.592000 10 36 7.48243e-07 8.71676e-07 0.335167 1 0 DNAH2 146754 broad.mit.edu 37 17 7667583 7667583 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:7667583G>A ENST00000572933.1 + 20 4788 c.3328G>A c.(3328-3330)Gag>Aag p.E1110K DNAH2_ENST00000389173.2_Missense_Mutation_p.E1110K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1110 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E1110K(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGTGCCAGTCGAGGACAGTGT 0.557000 18 96 0 0 0.608945 0 0 CYP11B1 1584 broad.mit.edu 37 8 143960555 143960555 + Silent SNP G G A rs5284 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:143960555G>A ENST00000292427.4 - 2 320 c.288C>T c.(286-288)gaC>gaT p.D96D CYP11B1_ENST00000377675.3_Silent_p.D141D|CYP11B1_ENST00000517471.1_Silent_p.D96D NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 96 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity p.D96D(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GCTTCTCCACGTCCTCCGGCA 0.627000 Familial Hyperaldosteronism type I 37 51 0 0 0.870114 0 0 ITGA8 8516 broad.mit.edu 37 10 15646309 15646309 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:15646309G>A ENST00000378076.3 - 20 2369 c.2016C>T c.(2014-2016)ctC>ctT p.L672L NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 672 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity p.L672L(1) NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CATTTATTATGAGCATAAGGT 0.368000 16 116 0 0 0.479597 0 0 FH 2271 broad.mit.edu 37 1 241669315 241669315 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:241669315C>A ENST00000366560.3 - 6 930 c.892G>T c.(892-894)Gct>Tct p.A298S NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 298 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity p.A298S(1) biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) GTAAGTGCAGCCACTTTTGCA 0.413000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 36 133 2.2871e-25 3.87495e-25 0.834066 1 0 C11orf82 220042 broad.mit.edu 37 11 82643734 82643734 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:82643734G>C ENST00000533655.1 + 6 1566 c.1354G>C c.(1354-1356)Gat>Cat p.D452H C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.D151H|C11orf82_ENST00000430323.2_Missense_Mutation_p.D452H NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 452 apoptosis|cell cycle arrest cytoplasm|nucleus p.D452H(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 TAATGACATTGATAAATTTCA 0.423000 16 102 0 0 0.539581 0 0 CDON 50937 broad.mit.edu 37 11 125891246 125891246 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:125891246C>A ENST00000392693.3 - 3 373 c.246G>T c.(244-246)ctG>ctT p.L82L CDON_ENST00000263577.7_Silent_p.L82L NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 82 Ig-like C2-type 1. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding p.L82L(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) AAAGAATTGTCAGAGTCCCCT 0.468000 19 68 2.35188e-11 3.14372e-11 0.539581 1 0 MCRS1 10445 broad.mit.edu 37 12 49952452 49952452 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:49952452C>G ENST00000550165.1 - 16 1629 c.1363G>C c.(1363-1365)Gag>Cag p.E455Q MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000357123.4_Missense_Mutation_p.E468Q|MCRS1_ENST00000343810.4_Missense_Mutation_p.E455Q|MCRS1_ENST00000546244.1_Missense_Mutation_p.E264Q Q96EZ8 MCRS1_HUMAN microspherule protein 1 455 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding p.E468Q(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 TTGGCAGCCTCAGCCCTGATG 0.602000 7 90 0 0 0.307466 0 0 KLK7 5650 broad.mit.edu 37 19 51483660 51483660 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:51483660G>T ENST00000391807.1 - 4 406 c.305C>A c.(304-306)cCc>cAc p.P102H KLK7_ENST00000597707.1_Missense_Mutation_p.P30H|KLK7_ENST00000336317.4_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.P102H NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 102 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity p.P102H(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) GGAGTAGCCGGGGTGGCGGAA 0.572000 21 33 2.37509e-13 3.31931e-13 0.592651 1 0 ADCY10 55811 broad.mit.edu 37 1 167815034 167815034 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:167815034C>A ENST00000367848.1 - 21 2995 c.2498G>T c.(2497-2499)aGg>aTg p.R833M ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.R925M|ADCY10_ENST00000545172.1_Missense_Mutation_p.R772M Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 925 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding p.R925M(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GAATCGAATCCTGTGGCACTC 0.493000 46 99 3.86361e-14 5.49582e-14 0.870114 1 0 ANO3 63982 broad.mit.edu 37 11 26568988 26568988 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:26568988C>T ENST00000256737.3 + 12 2032 c.1180C>T c.(1180-1182)Cta>Tta p.L394L ANO3_ENST00000537978.1_Silent_p.L378L|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000525139.1_Silent_p.L378L|ANO3_ENST00000531568.1_Silent_p.L248L NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 394 chloride channel complex chloride channel activity p.L394L(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GAAGATTGGACTATACTTTGC 0.373000 16 537 0 0 0.539581 0 0 OR9G1 390174 broad.mit.edu 37 11 56468595 56468595 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:56468595G>T ENST00000312153.1 + 1 732 c.732G>T c.(730-732)ctG>ctT p.L244L NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 p.L244L(1) breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 CCTCCCACCTGACCTCTGTCA 0.458000 16 438 1.88708e-17 2.86291e-17 0.729181 1 0 KALRN 8997 broad.mit.edu 37 3 123813744 123813744 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:123813744G>A ENST00000360013.3 + 1 187 c.60G>A c.(58-60)ctG>ctA p.L20L KALRN_ENST00000460856.1_Silent_p.L20L|KALRN_ENST00000240874.3_Silent_p.L20L|KALRN_ENST00000477496.1_3'UTR NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 20 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.L20L(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TCCGGCTGCTGGATCGAGGTA 0.517000 9 66 0 0 0.307466 0 0 CDH18 1016 broad.mit.edu 37 5 19473730 19473730 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:19473730C>A ENST00000507958.1 - 15 2968 c.1978G>T c.(1978-1980)Gat>Tat p.D660Y CDH18_ENST00000274170.4_Missense_Mutation_p.D660Y|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.D660Y Q13634 CAD18_HUMAN cadherin 18, type 2 660 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D660Y(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCTCCTTCATCATCATAGGTG 0.502000 50 260 3.68337e-26 6.28062e-26 0.870114 1 0 MRGPRD 116512 broad.mit.edu 37 11 68747704 68747704 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:68747704G>T ENST00000309106.3 - 1 751 c.752C>A c.(751-753)cCc>cAc p.P251H NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 251 integral to membrane|plasma membrane G-protein coupled receptor activity p.P251H(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTGCATCTCGGGCGGCAGGCT 0.612000 4 27 0.00116845 0.00122848 0.217242 1 0 ZNF257 113835 broad.mit.edu 37 19 22271585 22271585 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:22271585C>G ENST00000594947.1 + 4 1177 c.1033C>G c.(1033-1035)Caa>Gaa p.Q345E NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q345E(1)|p.Q345*(1) haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) GAAACCCTTCCAATGTGAAGA 0.418000 28 46 0 0 0.693898 0 0 ECM2 1842 broad.mit.edu 37 9 95285068 95285068 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:95285068C>T ENST00000344604.5 - 2 230 c.81G>A c.(79-81)agG>agA p.R27R CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.R27R|ECM2_ENST00000375540.1_Silent_p.R27R NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 27 cell-matrix adhesion integrin binding p.R27R(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 TCCTTTGCTTCCTAGGAATTT 0.358000 30 134 0 0 0.717897 0 0 CSMD2 114784 broad.mit.edu 37 1 34035054 34035054 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:34035054G>T ENST00000373381.4 - 52 8227 c.8051C>A c.(8050-8052)tCc>tAc p.S2684Y NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2686 Sushi 17. integral to membrane|plasma membrane protein binding p.S2686Y(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGTGTATCCGGAATTGCAGGA 0.582000 20 72 6.38683e-12 8.72721e-12 0.729181 1 0 IL17F 112744 broad.mit.edu 37 6 52103575 52103575 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:52103575G>T ENST00000336123.4 - 2 314 c.207C>A c.(205-207)tcC>tcA p.S69S NM_052872.3 NP_443104.1 Q96PD4 IL17F_HUMAN interleukin 17F 69 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity p.M70L(1) NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) TACGTGACATGGAAACGCGCT 0.443000 12 61 1.5842e-08 1.96915e-08 0.435327 1 0 URB2 9816 broad.mit.edu 37 1 229773791 229773791 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:229773791A>T ENST00000258243.2 + 4 3567 c.3431A>T c.(3430-3432)gAc>gTc p.D1144V NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1144 nucleolus p.D1144V(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 CAAGGAAGCGACAGGACGCTG 0.582000 21 84 0 0 0.654019 0 0 TFIP11 24144 broad.mit.edu 37 22 26892178 26892178 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr22:26892178G>A ENST00000407690.1 - 12 1993 c.1710C>T c.(1708-1710)atC>atT p.I570I TFIP11_ENST00000407148.1_Silent_p.I570I|TFIP11_ENST00000405938.1_Silent_p.I570I|TFIP11_ENST00000407431.1_Silent_p.I570I NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 570 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity p.I570I(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 GCTTACTACGGATGGGGGAAT 0.592000 7 58 0 0 0.335167 0 0 DCHS1 8642 broad.mit.edu 37 11 6651357 6651357 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:6651357C>T ENST00000299441.3 - 10 5079 c.4668G>A c.(4666-4668)gaG>gaA p.E1556E NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1556 Cadherin 15. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E1556E(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCGGCTGGTCCTCTGGGAGGC 0.716000 9 4 0 0 0.307466 0 0 ZNF492 57615 broad.mit.edu 37 19 22847441 22847441 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:22847441C>A ENST00000456783.2 + 4 1214 c.970C>A c.(970-972)Ctt>Att p.L324I NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L324I(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) GTTATCCCACCTTACTACACA 0.388000 38 43 5.71845e-15 8.28189e-15 0.812448 1 0 INSR 3643 broad.mit.edu 37 19 7267399 7267399 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:7267399C>A ENST00000341500.5 - 2 648 c.609G>T c.(607-609)ggG>ggT p.G203G INSR_ENST00000302850.5_Silent_p.G203G NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 203 Cys-rich. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding p.G203G(2) breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGACAAACTGCCCGTTGATGA 0.522000 20 94 9.04412e-07 1.04597e-06 0.681144 1 0 KIF2B 84643 broad.mit.edu 37 17 51901221 51901221 + Missense_Mutation SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:51901221A>G ENST00000268919.4 + 1 983 c.827A>G c.(826-828)aAc>aGc p.N276S NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 276 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.N276S(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AAAGCCTCCAACGAGTTGGTG 0.567000 15 66 0 0 0.457914 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376528 138376528 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:138376528G>T ENST00000356818.2 + 4 721 c.172G>T c.(172-174)Ggg>Tgg p.G58W PPP1R26_ENST00000401470.3_Missense_Mutation_p.G58W|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G58W|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G58W|PPP1R26_ENST00000605660.1_Missense_Mutation_p.G58W|PPP1R26_ENST00000602993.1_Intron NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 58 nucleolus protein binding p.G58W(1) GCAGCGCGACGGGGCTGCTCG 0.697000 16 41 3.41278e-10 4.42829e-10 0.520397 1 0 FLG2 388698 broad.mit.edu 37 1 152324370 152324370 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:152324370G>T ENST00000388718.5 - 3 5964 c.5892C>A c.(5890-5892)ccC>ccA p.P1964P FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1964 calcium ion binding|structural molecule activity p.P1964P(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCCCTGAGGGCCCTTCAC 0.527000 94 431 3.07327e-39 5.77052e-39 0.870114 1 0 OTOGL 283310 broad.mit.edu 37 12 80733009 80733009 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:80733009G>T ENST00000458043.2 + 42 4994 c.4988G>T c.(4987-4989)cGa>cTa p.R1663L OTOGL_ENST00000547103.1_Missense_Mutation_p.R1651L NM_173591.3 NP_775862.3 otogelin-like p.R28L(1)|p.R1663L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTGGCTTCCGATTTAACTTG 0.353000 120 315 4.71618e-75 9.26974e-75 0.870114 1 0 TTC38 55020 broad.mit.edu 37 22 46684477 46684477 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr22:46684477C>T ENST00000381031.3 + 11 1150 c.1074C>T c.(1072-1074)gaC>gaT p.D358D TTC38_ENST00000445282.2_Silent_p.D300D NM_017931.2 NP_060401.2 Q5R3I4 TTC38_HUMAN tetratricopeptide repeat domain 38 358 binding p.D358D(1) endometrium(4)|large_intestine(3)|lung(4)|ovary(1) 12 CCCTGCGGGACGCCAGCGAGT 0.642000 20 68 0 0 0.624587 0 0 CR1 1378 broad.mit.edu 37 1 207760746 207760746 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:207760746C>A ENST00000367049.4 + 34 5546 c.5546C>A c.(5545-5547)cCa>cAa p.P1849Q CR1_ENST00000367051.1_Missense_Mutation_p.P1399Q|CR1_ENST00000400960.2_Missense_Mutation_p.P1399Q|CR1_ENST00000367053.1_Missense_Mutation_p.P1399Q|CR1_ENST00000367052.1_Missense_Mutation_p.P1399Q|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1399 Sushi 29. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.P1849K(1)|p.P1404K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TGTAAAACCCCAGAGCAGTTT 0.438000 26 99 6.07407e-21 9.59284e-21 0.717897 1 0 PCDHB13 56123 broad.mit.edu 37 5 140594856 140594856 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:140594856G>T ENST00000341948.4 + 1 1348 c.1161G>T c.(1159-1161)caG>caT p.Q387H NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 387 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.Q387H(1) NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCATTCAGGAGGATCTAC 0.458000 35 103 2.80507e-11 3.73075e-11 0.760397 1 0 WSCD2 9671 broad.mit.edu 37 12 108589971 108589971 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:108589971G>T ENST00000332082.4 + 3 1180 c.362G>T c.(361-363)cGg>cTg p.R121L WSCD2_ENST00000261400.3_Missense_Mutation_p.R121L|WSCD2_ENST00000547525.1_Missense_Mutation_p.R121L|WSCD2_ENST00000549903.1_Missense_Mutation_p.R121L Q2TBF2 WSCD2_HUMAN WSC domain containing 2 121 integral to membrane p.R121L(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 AGGGTTGTCCGGGAGAAGGAG 0.567000 11 31 6.40141e-05 6.94066e-05 0.387290 1 0 FRY 10129 broad.mit.edu 37 13 32783856 32783856 + Silent SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:32783856T>A ENST00000380250.3 + 33 4906 c.4410T>A c.(4408-4410)gtT>gtA p.V1470V NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1470 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane p.V1470V(1) NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GCGACACAGTTCTCCTACCCT 0.483000 35 41 0 0 0.812448 0 0 OR8K3 219473 broad.mit.edu 37 11 56085806 56085806 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:56085806G>T ENST00000312711.1 + 1 24 c.24G>T c.(22-24)acG>acT p.T8T NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T8T(1) central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) ATCTAACAACGGTGAATGAAT 0.413000 30 166 3.69857e-22 5.98673e-22 0.729181 1 0 DGKK 139189 broad.mit.edu 37 X 50134575 50134575 + RNA SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:50134575C>G ENST00000376025.2 - 0 1764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.?(1) central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CCAACTGACACTGCAAGAACA 0.493000 17 59 0 0 0.520397 0 0 DCAF8 50717 broad.mit.edu 37 1 160192443 160192443 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:160192443C>T ENST00000368073.3 - 11 1872 c.1438G>A c.(1438-1440)Gtg>Atg p.V480M DCAF8_ENST00000556710.1_Missense_Mutation_p.V634M|DCAF8_ENST00000326837.2_Missense_Mutation_p.V480M|DCAF8_ENST00000368074.1_Missense_Mutation_p.V480M|DCAF8_ENST00000461888.1_5'UTR Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 480 CUL4 RING ubiquitin ligase complex protein binding p.V480M(1)|p.V634M(1) cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 ATACTCACCACGCCTCCCTTG 0.502000 12 156 0 0 0.435327 0 0 KANSL1 284058 broad.mit.edu 37 17 44248468 44248468 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:44248468G>C ENST00000262419.6 - 2 1512 c.1042C>G c.(1042-1044)Cga>Gga p.R348G KANSL1_ENST00000574590.1_Missense_Mutation_p.R348G|KANSL1_ENST00000575318.1_Missense_Mutation_p.R348G|KANSL1_ENST00000576248.1_5'UTR|KANSL1_ENST00000572904.1_Missense_Mutation_p.R348G|KANSL1_ENST00000432791.1_Missense_Mutation_p.R348G|KANSL1_ENST00000393476.3_5'UTR NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 348 MLL1 complex protein binding p.R348*(2)|p.R348G(1) TCAGCCTTTCGAGTCAGCATC 0.458000 17 132 0 0 0.520397 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230312 140230312 + Silent SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:140230312G>C ENST00000378122.3 + 1 2956 c.2232G>C c.(2230-2232)gcG>gcC p.A744A PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A744A|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_014005.3 NP_054724.1 p.A744A(2) breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCTAGCGCGGTGGGGAGTT 0.652000 13 59 0 0 0.479597 0 0 CASP10 843 broad.mit.edu 37 2 202074065 202074065 + Nonsense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:202074065C>T ENST00000286186.6 + 9 1630 c.1195C>T c.(1195-1197)Cag>Tag p.Q399* CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Nonsense_Mutation_p.Q356*|CASP10_ENST00000448480.1_Nonsense_Mutation_p.Q356*|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000272879.5_Nonsense_Mutation_p.Q399*|CASP10_ENST00000313728.7_Nonsense_Mutation_p.Q332* NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 399 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding p.Q399*(2) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 CTTTTTCATCCAGGCCTGCCA 0.532000 20 62 0 0 0.608945 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28214865 28214865 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr21:28214865G>T ENST00000284984.2 - 2 1324 c.870C>A c.(868-870)gcC>gcA p.A290A NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 290 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding p.A290E(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) TGTACAATCTGGCTGCCACCG 0.512000 36 45 6.90743e-12 9.42244e-12 0.788014 1 0 F13A1 2162 broad.mit.edu 37 6 6305703 6305703 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:6305703G>T ENST00000264870.3 - 3 465 c.200C>A c.(199-201)aCt>aAt p.T67N NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 67 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.T67N(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) ATACTTGTCAGTGTGGTGGTC 0.448000 38 87 4.67007e-22 7.52871e-22 0.840704 1 0 GAD1 2571 broad.mit.edu 37 2 171700608 171700608 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:171700608A>T ENST00000358196.3 + 7 1242 c.692A>T c.(691-693)aAg>aTg p.K231M GAD1_ENST00000429023.1_3'UTR NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 231 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding p.K231M(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATAACACTTAAGAAGATGAGA 0.378000 24 80 0 0 0.681144 0 0 EDARADD 128178 broad.mit.edu 37 1 236645629 236645629 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:236645629C>A ENST00000359362.5 + 6 512 c.298C>A c.(298-300)Ccc>Acc p.P100T EDARADD_ENST00000334232.4_Missense_Mutation_p.P110T NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 110 cell differentiation|signal transduction cytoplasm p.P110T(1) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GCTCCGGGCCCCCACCATAAG 0.478000 30 90 7.38237e-10 9.42581e-10 0.706142 1 0 KLHL32 114792 broad.mit.edu 37 6 97424052 97424052 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:97424052G>T ENST00000369261.4 + 3 566 c.204_splice c.e3+1 p.R68_splice KLHL32_ENST00000536676.1_Splice_Site_p.R68_splice|KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Splice_Site_p.R68_splice NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 68 BTB. p.R68L(1) breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) GACTATTTCCGGGTAAGTCAG 0.458000 38 62 4.67007e-22 7.52871e-22 0.840704 1 0 PRRC2B 84726 broad.mit.edu 37 9 134360104 134360104 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:134360104G>T ENST00000357304.4 + 23 5547 c.5492G>T c.(5491-5493)cGg>cTg p.R1831L PRRC2B_ENST00000405995.1_Missense_Mutation_p.R1137L|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R1137L|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1831 protein binding p.R1831L(2) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CCCATCCTGCGGCGGGACCAT 0.572000 42 88 4.14194e-30 7.31253e-30 0.859065 1 0 HS3ST1 9957 broad.mit.edu 37 4 11400898 11400898 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:11400898C>T ENST00000002596.5 - 2 1906 c.732G>A c.(730-732)tcG>tcA p.S244S NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 244 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity p.S244S(3) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 AGTAGAAGTTCGAAGCATTGA 0.572000 8 57 0 0 0.335167 0 0 GLDC 2731 broad.mit.edu 37 9 6554779 6554779 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:6554779C>A ENST00000321612.6 - 19 2355 c.2205G>T c.(2203-2205)gtG>gtT p.V735V NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 735 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding p.V735V(1) cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GACAGATTCCCACCTACCACA 0.577000 7 14 0.0293803 0.0301744 0.248553 1 0 TAAR1 134864 broad.mit.edu 37 6 132967082 132967082 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:132967082C>A ENST00000275216.1 - 1 60 c.61G>T c.(61-63)Gat>Tat p.D21Y NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 21 plasma membrane p.D21Y(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) GCACGGACATCATTTGACCAG 0.383000 175 301 8.46955e-67 1.66061e-66 0.870114 1 0 DDX10 1662 broad.mit.edu 37 11 108709290 108709290 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:108709290G>T ENST00000526794.1 + 14 2115 c.2083G>T c.(2083-2085)Gag>Tag p.E695* DDX10_ENST00000322536.3_Nonsense_Mutation_p.E695* Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 695 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity p.E695*(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGATGAAGGGGAGGTAAGATT 0.328000 T NUP98 AML* 41 232 2.2871e-25 3.87495e-25 0.834066 1 0 TAAR5 9038 broad.mit.edu 37 6 132910326 132910326 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:132910326G>T ENST00000258034.2 - 1 551 c.500C>A c.(499-501)tCg>tAg p.S167* NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 167 synaptic transmission integral to plasma membrane G-protein coupled receptor activity p.S167*(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GAGGAATAACGAAGTGTATGC 0.547000 8 110 1.58986e-06 1.81764e-06 0.361761 1 0 GPR149 344758 broad.mit.edu 37 3 154146868 154146868 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:154146868G>A ENST00000389740.2 - 1 636 c.537C>T c.(535-537)ccC>ccT p.P179P NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 179 integral to membrane|plasma membrane G-protein coupled receptor activity p.P179P(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GGCAGCCCCAGGGCGTGCGCA 0.667000 8 30 0 0 0.278610 0 0 ALX3 257 broad.mit.edu 37 1 110607491 110607491 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:110607491G>A ENST00000369792.4 - 2 399 c.312C>T c.(310-312)ccC>ccT p.P104P NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 104 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P104P(1) large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) AGGGCAGCTGGGGGAAGCTGG 0.612000 13 40 0 0 0.520397 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369960 86369960 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:86369960C>G ENST00000400286.2 - 2 1282 c.684G>C c.(682-684)caG>caC p.Q228H NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 228 LRRCT 1. integral to membrane p.Q228H(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AAGTTTTTAACTGCAATAAGT 0.398000 57 76 0 0 0.870114 0 0 SI 6476 broad.mit.edu 37 3 164748524 164748524 + Silent SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:164748524T>A ENST00000264382.3 - 25 2930 c.2868A>T c.(2866-2868)acA>acT p.T956T NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 956 Isomaltase.|P-type 2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.T956T(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AGCCACGTTGTGTGCACTTTT 0.303000 HNSCC(35;0.089) 59 185 0 0 0.870114 0 0 ASPM 259266 broad.mit.edu 37 1 197112929 197112929 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:197112929C>A ENST00000367409.4 - 3 709 c.453G>T c.(451-453)tgG>tgT p.W151C ASPM_ENST00000294732.7_Missense_Mutation_p.W151C NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 151 mitosis cytoplasm|nucleus calmodulin binding p.W151C(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TAATGGTATCCCAAAGACTCC 0.289000 4 91 0.150653 0.152759 0.150653 1 0 MASTL 84930 broad.mit.edu 37 10 27456180 27456180 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:27456180C>T ENST00000375946.4 + 7 1564 c.961C>T c.(961-963)Ccc>Tcc p.P321S MASTL_ENST00000375940.4_Missense_Mutation_p.P321S|MASTL_ENST00000342386.6_Missense_Mutation_p.P321S NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 321 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity p.P321S(1) breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCACAGCAGTCCCAAATGGGA 0.383000 28 106 0 0 0.706142 0 0 KALRN 8997 broad.mit.edu 37 3 123987731 123987731 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:123987731G>T ENST00000360013.3 + 5 719 c.592G>T c.(592-594)Gtg>Ttg p.V198L KALRN_ENST00000460856.1_Missense_Mutation_p.V198L|KALRN_ENST00000240874.3_Missense_Mutation_p.V198L NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 198 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.V198L(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CAACAGCGCCGTGCACCTGCT 0.612000 21 34 7.41877e-09 9.25113e-09 0.608945 1 0 EEF2 1938 broad.mit.edu 37 19 3979399 3979399 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:3979399C>A ENST00000309311.6 - 11 1729 c.1641G>T c.(1639-1641)gcG>gcT p.A547A NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 547 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity p.A547A(1) 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) CGCCGGCGCCCGCGATGATAT 0.647000 39 135 7.77092e-38 1.44888e-37 0.870114 1 0 ROR2 4920 broad.mit.edu 37 9 94486620 94486620 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:94486620G>A ENST00000375708.3 - 9 2354 c.2156C>T c.(2155-2157)gCc>gTc p.A719V ROR2_ENST00000375715.1_Missense_Mutation_p.A579V|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 719 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.A719V(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 ATACACCCAGGCGGGACAGTC 0.642000 8 41 0 0 0.335167 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229254 90229254 + RNA SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:90229254A>T ENST00000390278.2 + 0 94 TTTGACATCCAGATGATCCAG 0.433000 17 116 0 0 0.539581 0 0 HBG2 3048 broad.mit.edu 37 11 5274633 5274633 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:5274633G>T ENST00000380259.2 - 8 1558 c.318C>A c.(316-318)ctC>ctA p.L106L HBG2_ENST00000336906.4_Silent_p.L106L|HBG2_ENST00000380252.1_Silent_p.L96L hemoglobin, gamma G p.L107M(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATTTCCCAGGAGCTGTTGAG 0.512000 32 64 1.30916e-28 2.29104e-28 0.870114 1 0 GOLIM4 27333 broad.mit.edu 37 3 167745622 167745622 + Missense_Mutation SNP T T C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:167745622T>C ENST00000470487.1 - 12 2206 c.1517A>G c.(1516-1518)tAt>tGt p.Y506C GOLIM4_ENST00000309027.4_Missense_Mutation_p.Y478C NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 506 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus p.Y506C(1) breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GTCTCTTTCATAGGCTAGCAA 0.448000 31 182 0 0 0.729181 0 0 GRIP1 23426 broad.mit.edu 37 12 66856730 66856730 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:66856730C>A ENST00000359742.4 - 9 1256 c.1016G>T c.(1015-1017)cGg>cTg p.R339L GRIP1_ENST00000286445.7_Missense_Mutation_p.R339L|GRIP1_ENST00000398016.3_Missense_Mutation_p.R339L Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 339 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity p.R339L(1) NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TAGGGCCAGCCGGGTCTGATG 0.562000 4 40 0.00909568 0.00942643 0.150653 1 0 PSMA7 5688 broad.mit.edu 37 20 60713265 60713265 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:60713265C>A ENST00000370873.4 - 5 679 c.553G>T c.(553-555)Gat>Tat p.D185Y PSMA7_ENST00000370861.1_Missense_Mutation_p.D115Y|PSMA7_ENST00000484488.1_5'UTR NM_002792.3 NP_002783.1 O14818 PSA7_HUMAN proteasome (prosome, macropain) subunit, alpha type, 7 185 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity p.D185Y(2) large_intestine(1)|lung(2) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) ATGGTCAGATCATCTGTTTCA 0.483000 20 65 3.83957e-06 4.33991e-06 0.639603 1 0 NAV2 89797 broad.mit.edu 37 11 20112467 20112467 + Missense_Mutation SNP T T C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:20112467T>C ENST00000396085.1 + 28 5925 c.5564T>C c.(5563-5565)tTa>tCa p.L1855S NAV2_ENST00000533917.1_Missense_Mutation_p.L916S|NAV2_ENST00000360655.4_Missense_Mutation_p.L1788S|NAV2_ENST00000396087.3_Missense_Mutation_p.L1911S|NAV2_ENST00000349880.4_Missense_Mutation_p.L1852S|NAV2_ENST00000540292.1_Missense_Mutation_p.L1842S|NAV2_ENST00000527559.2_Missense_Mutation_p.L1840S|NAV2_ENST00000311043.8_Missense_Mutation_p.L916S NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1911 nucleus ATP binding|helicase activity p.L1911S(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CGAAATGAGTTAAGAGACAAG 0.493000 10 87 0 0 0.335167 0 0 COL28A1 340267 broad.mit.edu 37 7 7412815 7412815 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:7412815C>T ENST00000399429.3 - 32 2862 c.2722G>A c.(2722-2724)Gat>Aat p.D908N NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 908 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity p.D908N(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCACGAGAATCTGTCTGTCCA 0.458000 21 85 0 0 0.624587 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28214866 28214866 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr21:28214866G>T ENST00000284984.2 - 2 1323 c.869C>A c.(868-870)gCc>gAc p.A290D NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 290 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding p.A290E(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) GTACAATCTGGCTGCCACCGA 0.517000 35 43 4.34311e-12 5.95498e-12 0.779181 1 0 C11orf40 143501 broad.mit.edu 37 11 4592738 4592738 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:4592738G>T ENST00000307616.1 - 4 568 c.569C>A c.(568-570)gCa>gAa p.A190E NM_144663.1 NP_653264.1 Q8WZ69 CK040_HUMAN chromosome 11 open reading frame 40 190 p.A190E(1) large_intestine(3)|lung(1)|ovary(2)|stomach(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CTGGAGCAGTGCTAGGATGGA 0.433000 7 10 0.0293803 0.0301744 0.248553 1 0 MUC5B 727897 broad.mit.edu 37 11 1279598 1279598 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:1279598G>T ENST00000447027.1 + 43 16660 c.e43+1 MUC5B_ENST00000529681.1_Splice_Site Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.?(2) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTTCTACGGGGTAAGGGCACA 0.617000 6 29 3.59834e-05 3.9552e-05 0.217242 1 0 NEDD4 4734 broad.mit.edu 37 15 56142862 56142862 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:56142862C>A ENST00000508342.1 - 10 2781 c.2482G>T c.(2482-2484)Ggc>Tgc p.G828C NEDD4_ENST00000506154.1_Missense_Mutation_p.G812C|NEDD4_ENST00000338963.2_Missense_Mutation_p.G756C|NEDD4_ENST00000435532.3_Missense_Mutation_p.G409C P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 828 Mediates interaction with TNIK (By similarity). development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity p.G409C(1)|p.G756C(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) ACCTGCTGGCCTGAATCACTG 0.512000 50 64 2.13883e-14 3.06425e-14 0.870114 1 0 C2orf78 388960 broad.mit.edu 37 2 74041303 74041303 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:74041303G>T ENST00000409561.1 + 2 918 c.797G>T c.(796-798)gGg>gTg p.G266V NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 266 p.G266V(2) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TCTACTTCTGGGATGTATTAC 0.453000 25 166 3.6726e-16 5.44747e-16 0.667858 1 0 STAB1 23166 broad.mit.edu 37 3 52536690 52536690 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:52536690G>T ENST00000321725.6 + 6 606 c.530G>T c.(529-531)gGg>gTg p.G177V NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 177 EGF-like 2. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.G177V(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGGCCACGTGGGGATGGAAGC 0.632000 9 36 4.36969e-10 5.62421e-10 0.435327 1 0 ZNF248 57209 broad.mit.edu 37 10 38120853 38120853 + Nonsense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:38120853G>C ENST00000395867.3 - 6 1980 c.1430C>G c.(1429-1431)tCa>tGa p.S477* ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Nonsense_Mutation_p.S477*|AL135791.1_ENST00000583461.1_RNA NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S477*(1) NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 AGTGAGGGCTGATCTGTGGCA 0.438000 83 156 0 0 0.870114 0 0 ZNF730 100129543 broad.mit.edu 37 19 23329182 23329182 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:23329182C>A ENST00000597761.2 + 4 1535 c.1336C>A c.(1336-1338)Cat>Aat p.H446N NM_001277403.1 NP_001264332.1 zinc finger protein 730 p.H446N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 TAAAAGAATTCATACTGGAGA 0.388000 32 55 1.26612e-14 1.82047e-14 0.779181 1 0 CADPS 8618 broad.mit.edu 37 3 62636555 62636555 + Silent SNP G G T rs139597981 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:62636555G>T ENST00000383710.4 - 5 1519 c.1170C>A c.(1168-1170)tcC>tcA p.S390S CADPS_ENST00000490353.2_Silent_p.S390S|CADPS_ENST00000283269.9_Silent_p.S390S|CADPS_ENST00000357948.3_Silent_p.S390S NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 390 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding p.S390S(2) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CATCTGACTTGGAGAGCTGGT 0.517000 18 105 2.39187e-15 3.49581e-15 0.575678 1 0 IGKV1D-8 28904 broad.mit.edu 37 2 90260163 90260163 + RNA SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:90260163C>A ENST00000471857.1 + 0 447 GGCAGTGGATCTGGGACAGAT 0.478000 35 171 9.8876e-21 1.55627e-20 0.804634 1 0 ZNF830 91603 broad.mit.edu 37 17 33289356 33289356 + Silent SNP T T C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:33289356T>C ENST00000361952.3 + 1 808 c.771T>C c.(769-771)gaT>gaC p.D257D NM_052857.3 NP_443089.3 Q96NB3 ZN830_HUMAN zinc finger protein 830 257 cell division|mitosis cytoplasm|nucleus metal ion binding p.D257D(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) CTGAGGTAGATGCAAGAGTAC 0.453000 24 52 0 0 0.667858 0 0 GPR158 57512 broad.mit.edu 37 10 25887972 25887972 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:25887972C>A ENST00000376351.3 + 11 3776 c.3417C>A c.(3415-3417)caC>caA p.H1139Q GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1139 integral to membrane|plasma membrane G-protein coupled receptor activity p.H1139Q(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AAATAGGACACCAGGAAAAAA 0.458000 43 99 1.15505e-17 1.75567e-17 0.847076 1 0 ARHGEF18 23370 broad.mit.edu 37 19 7516153 7516153 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:7516153G>T ENST00000359920.6 + 6 1544 c.e6+1 ARHGEF18_ENST00000319670.9_Splice_Site|CTD-2207O23.3_ENST00000593531.1_Splice_Site NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.?(2) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) AACACGGAAGGTAGGCCTTCT 0.582000 7 39 5.18039e-06 5.83892e-06 0.278610 1 0 GRM4 2914 broad.mit.edu 37 6 34003554 34003554 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:34003554G>T ENST00000374181.3 - 8 2502 c.2333C>A c.(2332-2334)cCc>cAc p.P778H GRM4_ENST00000545715.1_Missense_Mutation_p.P470H|GRM4_ENST00000455714.2_Missense_Mutation_p.P638H|GRM4_ENST00000544773.1_Missense_Mutation_p.P609H|GRM4_ENST00000538487.1_Missense_Mutation_p.P778H|GRM4_ENST00000535756.1_Missense_Mutation_p.P645H|GRM4_ENST00000374177.3_Missense_Mutation_p.P662H NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 778 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.P778H(2)|p.P662H(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GAAGGTCTCGGGCACGCCGCG 0.577000 21 21 3.5997e-14 5.12957e-14 0.624587 1 0 LRRFIP2 9209 broad.mit.edu 37 3 37107382 37107382 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:37107382G>A ENST00000421307.1 - 24 2040 c.1618C>T c.(1618-1620)Cat>Tat p.H540Y LRRFIP2_ENST00000354379.4_Missense_Mutation_p.H219Y|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.H243Y|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.H540Y|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.H322Y|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.H243Y NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 540 Wnt receptor signaling pathway LRR domain binding p.H540Y(1)|p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 ACTGGTTCATGACTGACATCA 0.507000 17 93 0 0 0.693898 0 0 SMAD4 4089 broad.mit.edu 37 18 48591909 48591909 + Nonsense_Mutation SNP G G T rs121912576 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr18:48591909G>T ENST00000342988.3 + 9 1610 c.1072G>T c.(1072-1074)Gga>Tga p.G358* SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G358*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G262* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 358 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.G358*(4)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GGACCCTTCTGGAGGAGATCG 0.418000 82 83 8.41775e-28 1.46437e-27 0.870114 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18681848 18681848 + Silent SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:18681848G>C ENST00000380548.4 + 12 1719 c.1380G>C c.(1378-1380)gtG>gtC p.V460V ADAMTSL1_ENST00000276935.6_Silent_p.V460V|ADAMTSL1_ENST00000327883.7_Silent_p.V460V NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 460 TSP type-1 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.V460V(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GATACCGTGTGGTCCTCTGCA 0.502000 42 227 0 0 0.840704 0 0 UTP18 51096 broad.mit.edu 37 17 49353256 49353256 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:49353256A>T ENST00000225298.7 + 6 798 c.741A>T c.(739-741)gaA>gaT p.E247D NM_016001.2 NP_057085.2 Q9Y5J1 UTP18_HUMAN UTP18 small subunit (SSU) processome component homolog (yeast) 247 rRNA processing nucleolus p.E247D(1) breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) CGAATGCTGAACGTCCTACTG 0.388000 15 92 0 0 0.500413 0 0 SLC9C1 285335 broad.mit.edu 37 3 111950283 111950283 + Silent SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:111950283A>G ENST00000305815.5 - 13 1749 c.1497T>C c.(1495-1497)tgT>tgC p.C499C SLC9C1_ENST00000487372.1_Silent_p.C451C NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 499 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity p.C499C(1) TTTCCTTGTTACAGTGTGGAC 0.323000 20 53 0 0 0.557998 0 0 BRINP1 1620 broad.mit.edu 37 9 121929679 121929679 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:121929679C>A ENST00000265922.3 - 8 2430 c.1969G>T c.(1969-1971)Gtg>Ttg p.V657L DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 657 cell cycle arrest|cell death cytoplasm protein binding p.V657L(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TACCCAAACACCTGCACGTCT 0.577000 46 200 5.78141e-17 8.67212e-17 0.864702 1 0 CTCFL 140690 broad.mit.edu 37 20 56099141 56099141 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:56099141G>T ENST00000426658.2 - 1 782 c.121C>A c.(121-123)Cat>Aat p.H41N CTCFL_ENST00000371196.2_Missense_Mutation_p.H41N|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.H41N|CTCFL_ENST00000422869.2_Missense_Mutation_p.H41N|CTCFL_ENST00000423479.2_Missense_Mutation_p.H41N|CTCFL_ENST00000433949.2_Missense_Mutation_p.H41N|CTCFL_ENST00000422109.2_Missense_Mutation_p.H41N|CTCFL_ENST00000429804.2_Missense_Mutation_p.H41N|CTCFL_ENST00000432255.2_Missense_Mutation_p.H41N|CTCFL_ENST00000539382.1_Intron Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 41 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.H41N(1) NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) GGGCTCCGATGGTCTTTCTCT 0.562000 132 406 1.12733e-80 2.22675e-80 0.870114 1 0 BBS9 27241 broad.mit.edu 37 7 33217115 33217115 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:33217115G>T ENST00000242067.6 + 5 875 c.354G>T c.(352-354)ggG>ggT p.G118G BBS9_ENST00000396127.2_Silent_p.G118G|BBS9_ENST00000355070.2_Silent_p.G118G|BBS9_ENST00000354265.4_Silent_p.G118G|BBS9_ENST00000350941.3_Silent_p.G118G|BBS9_ENST00000425508.2_Silent_p.G73G NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 118 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.G118G(2) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGGAACATGGGAACCAATGTC 0.338000 Bardet-Biedl syndrome 9 119 0.00448238 0.00466963 0.307466 1 0 BCO2 83875 broad.mit.edu 37 11 112065407 112065407 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:112065407G>T ENST00000357685.5 + 5 800 c.665G>T c.(664-666)gGa>gTa p.G222V BCO2_ENST00000532593.1_Missense_Mutation_p.G117V|BCO2_ENST00000438022.1_Missense_Mutation_p.G188V|BCO2_ENST00000526088.1_Missense_Mutation_p.G188V|BCO2_ENST00000393032.2_Missense_Mutation_p.G188V|SDHD_ENST00000532612.1_Intron|BCO2_ENST00000531169.1_Missense_Mutation_p.G188V|BCO2_ENST00000361053.4_Intron Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 222 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.G222V(1) NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 GCTGTGAATGGAGCAACTGCA 0.383000 23 133 3.6726e-16 5.44747e-16 0.667858 1 0 VAV3 10451 broad.mit.edu 37 1 108138841 108138841 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:108138841G>T ENST00000370056.4 - 25 2617 c.2343C>A c.(2341-2343)ggC>ggA p.G781G VAV3_ENST00000527011.1_Silent_p.G781G|VAV3_ENST00000544443.1_Silent_p.G185G|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000415432.2_Silent_p.G221G NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 781 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.G221G(1)|p.G781G(1) NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TACAGCTGTTGCCTGCTCTAT 0.368000 74 177 1.71382e-40 3.23316e-40 0.870114 1 0 ITGAV 3685 broad.mit.edu 37 2 187506203 187506203 + Silent SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:187506203A>G ENST00000261023.3 + 12 1321 c.1047A>G c.(1045-1047)ctA>ctG p.L349L AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.L313L|ITGAV_ENST00000433736.2_Silent_p.L303L NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 349 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding p.L349L(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) CAGTGTCTCTACAGAGAGCTT 0.502000 32 186 0 0 0.760397 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563697 176563697 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:176563697A>T ENST00000367662.3 + 3 2121 c.957A>T c.(955-957)aaA>aaT p.K319N PAPPA2_ENST00000367661.3_Missense_Mutation_p.K319N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 319 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.K319N(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TCAGTGACAAAGGCTGGGCCC 0.537000 19 63 0 0 0.706142 0 0 C10orf90 118611 broad.mit.edu 37 10 128202476 128202476 + Translation_Start_Site SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:128202476G>C ENST00000356858.3 - 0 765 C10orf90_ENST00000284694.7_Missense_Mutation_p.Q19E|C10orf90_ENST00000454341.1_Missense_Mutation_p.Q19E|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_De_novo_Start_OutOfFrame|C10orf90_ENST00000544758.1_Missense_Mutation_p.Q116E Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 p.Q19E(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) AGGGCAATTTGATCTCTTCTA 0.343000 75 87 0 0 0.870114 0 0 BAGE2 85319 broad.mit.edu 37 21 11039159 11039159 + RNA SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr21:11039159G>C ENST00000470054.1 - 0 1044 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTCATGTGGGGACACTAAGGT 0.398000 48 456 0 0 0.870114 0 0 MUC6 4588 broad.mit.edu 37 11 1026437 1026437 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:1026437G>T ENST00000421673.2 - 20 2486 c.2436C>A c.(2434-2436)ggC>ggA p.G812G NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 812 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent p.G812G(4) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCTCGTAGAGGCCCTCGGCGC 0.667000 8 13 0.000157383 0.000169033 0.278610 1 0 FMO3 2328 broad.mit.edu 37 1 171061893 171061893 + Missense_Mutation SNP G G A rs72549320 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:171061893G>A ENST00000367755.4 + 2 205 c.94G>A c.(94-96)Gag>Aag p.E32K FMO3_ENST00000392085.2_Missense_Mutation_p.E32K|FMO3_ENST00000534514.1_3'UTR|FMO3_ENST00000542847.1_5'UTR|FMO3_ENST00000538429.1_Missense_Mutation_p.E32K NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 32 E -> K (in TMAU). xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.E32K(1) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CACCTGCTTTGAGAAGAGCAA 0.502000 19 49 0 0 0.557998 0 0 CLVS2 134829 broad.mit.edu 37 6 123376978 123376978 + Missense_Mutation SNP A A C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:123376978A>C ENST00000275162.4 + 5 2038 c.703A>C c.(703-705)Agt>Cgt p.S235R CLVS2_ENST00000368438.1_Missense_Mutation_p.S89R NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 235 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.S235R(2) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 CAACCTGAACAGTCTACACCA 0.453000 39 177 0 0 0.870114 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720932 140720932 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:140720932C>A ENST00000394576.2 + 1 2394 c.2394C>A c.(2392-2394)ctC>ctA p.L798L PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.L798L(2) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATCTCTACTCGAAGAAGAAA 0.413000 21 100 2.4624e-09 3.11409e-09 0.575678 1 0 FLT1 2321 broad.mit.edu 37 13 29008254 29008254 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:29008254G>T ENST00000282397.4 - 5 868 c.617C>A c.(616-618)aCc>aAc p.T206N FLT1_ENST00000539099.1_Missense_Mutation_p.T206N|FLT1_ENST00000541932.1_Missense_Mutation_p.T206N NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 206 Ig-like C2-type 2. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.T206N(2) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TGCTTCACAGGTCAGAAGCCC 0.418000 57 79 4.96213e-28 8.66473e-28 0.870114 1 0 STAG3 10734 broad.mit.edu 37 7 99802969 99802969 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:99802969C>T ENST00000426455.1 + 29 3607 c.3200C>T c.(3199-3201)cCt>cTt p.P1067L GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.P1067L|GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.P1009L Q9UJ98 STAG3_HUMAN stromal antigen 3 1067 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding p.P1067L(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGACCAGCCCTCAGGTCCTC 0.637000 42 62 0 0 0.870114 0 0 THOC2 57187 broad.mit.edu 37 X 122747510 122747510 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:122747510C>A ENST00000245838.8 - 35 4530 c.4499G>T c.(4498-4500)cGt>cTt p.R1500L THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.R1385L|THOC2_ENST00000355725.4_Missense_Mutation_p.R1500L NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1500 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding p.R1421L(1)|p.R1500L(1) breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 CTCCTCTTTACGTCTCTTGGT 0.373000 138 287 3.50799e-66 6.86121e-66 0.870114 1 0 USH2A 7399 broad.mit.edu 37 1 216256822 216256822 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:216256822G>A ENST00000366943.2 - 26 5660 c.5274C>T c.(5272-5274)aaC>aaT p.N1758N RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.N1758N|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1758 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.N1758N(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTCCATCTTTGTTATAAACGA 0.299000 HNSCC(13;0.011) 68 202 0 0 0.870114 0 0 PRPF38B 55119 broad.mit.edu 37 1 109235396 109235396 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:109235396G>C ENST00000370025.4 + 1 452 c.183G>C c.(181-183)atG>atC p.M61I PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.M61I|PRPF38B_ENST00000370021.1_5'UTR NM_018061.2 NP_060531.2 Q5VTL8 PR38B_HUMAN pre-mRNA processing factor 38B 61 mRNA processing|RNA splicing spliceosomal complex p.M61I(1) NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) TCAACCCCATGATCCTGACCA 0.582000 18 83 0 0 0.608945 0 0 TRAV1-1 28693 broad.mit.edu 37 14 22090691 22090691 + RNA SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:22090691C>G ENST00000542354.1 + 0 363 AGATGAAAGACTCTGCCTCTT 0.468000 14 74 0 0 0.435327 0 0 THEG 51298 broad.mit.edu 37 19 375777 375777 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:375777G>A ENST00000342640.4 - 1 236 c.194C>T c.(193-195)cCc>cTc p.P65L THEG_ENST00000346878.2_Missense_Mutation_p.P65L NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 65 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding p.P65L(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CTCCTCGGGGGGAAGCTCCTC 0.617000 67 154 0 0 0.870114 0 0 LRP8 7804 broad.mit.edu 37 1 53715182 53715182 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:53715182C>A ENST00000306052.6 - 18 2824 c.2723G>T c.(2722-2724)gGg>gTg p.G908V LRP8_ENST00000465675.1_Intron|LRP8_ENST00000371454.2_Intron|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Missense_Mutation_p.G738V NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 908 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity p.G908V(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 tctggtctccccaagacaggg 0.602000 11 20 9.70103e-10 1.23468e-09 0.361761 1 0 OR2A25 392138 broad.mit.edu 37 7 143771977 143771977 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:143771977G>T ENST00000408898.2 + 1 703 c.665G>T c.(664-666)tGt>tTt p.C222F NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C222F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CATATTCTATGTGCCATTCTA 0.488000 28 172 7.41945e-09 9.25113e-09 0.693898 1 0 CLEC4F 165530 broad.mit.edu 37 2 71043138 71043138 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:71043138G>C ENST00000272367.2 - 4 1451 c.1375C>G c.(1375-1377)Caa>Gaa p.Q459E CLEC4F_ENST00000426626.1_Missense_Mutation_p.Q459E NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 459 endocytosis integral to membrane receptor activity|sugar binding p.Q459E(1) endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TGGGTTCTTTGTAGCTGTTCC 0.507000 15 94 0 0 0.479597 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740261 140740261 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:140740261G>T ENST00000522605.1 + 1 559 c.559G>T c.(559-561)Gat>Tat p.D187Y PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 p.D187Y(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGACTCCAGATGGTCGTAA 0.458000 11 99 6.40141e-05 6.94066e-05 0.387290 1 0 SULT1B1 27284 broad.mit.edu 37 4 70599131 70599131 + Splice_Site SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:70599131C>A ENST00000310613.2 - 6 894 c.597_splice c.e6+1 p.E199_splice NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 199 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol p.E199D(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 ACCATTTTACCTCTTTCATAT 0.358000 79 170 9.37156e-40 1.7638e-39 0.870114 1 0 NTSR1 4923 broad.mit.edu 37 20 61340877 61340877 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:61340877C>A ENST00000370501.3 + 1 689 c.318C>A c.(316-318)ggC>ggA p.G106G NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 106 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled p.G106G(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) ACCACCTGGGCAGCCTGGCGC 0.667000 17 40 3.52763e-06 3.99298e-06 0.520397 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971107 21971107 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:21971107T>A ENST00000304494.5 - 2 521 c.251A>T c.(250-252)gAc>gTc p.D84V CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33V|CDKN2A_ENST00000530628.2_Silent_p.R98R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.R139R|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33V|CDKN2A_ENST00000579755.1_Silent_p.R98R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84V NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 84 D -> E (in a bladder tumor).|D -> H (in non-small cell lung carcinoma).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> Y (in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.D84V(6)|p.D84G(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.R139R(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCGGGCAGCGTCGTGCACGGG 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 6 0 0 0.217242 0 0 OR51V1 283111 broad.mit.edu 37 11 5221702 5221702 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:5221702G>C ENST00000321255.1 - 1 228 c.229C>G c.(229-231)Ctc>Gtc p.L77V NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L77V(1) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGTCAGTGAGGGCCAGCATG 0.537000 31 48 0 0 0.840704 0 0 HADHB 3032 broad.mit.edu 37 2 26502035 26502035 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:26502035G>T ENST00000317799.5 + 9 767 c.663G>T c.(661-663)gaG>gaT p.E221D HADHB_ENST00000545822.1_Missense_Mutation_p.E199D|HADHB_ENST00000537713.1_Missense_Mutation_p.E206D|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 221 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding p.E221D(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACCAGTGAGACCATGGGCC 0.532000 23 138 9.95505e-16 1.46301e-15 0.624587 1 0 MYO5A 4644 broad.mit.edu 37 15 52664516 52664516 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:52664516C>A ENST00000399231.3 - 21 2865 c.2622G>T c.(2620-2622)cgG>cgT p.R874R MYO5A_ENST00000358212.6_Silent_p.R874R|MYO5A_ENST00000399233.2_Silent_p.R874R|MYO5A_ENST00000553916.1_Silent_p.R874R|MYO5A_ENST00000356338.6_Silent_p.R874R NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 874 IQ 5. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity p.R874R(1) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CCAGCCAGCCCCGGACTCGCT 0.522000 15 26 7.45023e-12 1.0111e-11 0.592651 1 0 SLC22A11 55867 broad.mit.edu 37 11 64331817 64331817 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:64331817G>T ENST00000301891.4 + 5 1233 c.859G>T c.(859-861)Ggc>Tgc p.G287C SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.G287C|SLC22A11_ENST00000377581.3_Missense_Mutation_p.G287C NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 287 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity p.G287C(1) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) GATTATTAAGGGCAAACCAGA 0.587000 11 43 3.07112e-06 3.48613e-06 0.387290 1 0 TRPS1 7227 broad.mit.edu 37 8 116632061 116632061 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:116632061C>A ENST00000395715.3 - 3 841 c.264G>T c.(262-264)ttG>ttT p.L88F TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.L75F|TRPS1_ENST00000520276.1_Missense_Mutation_p.L79F|TRPS1_ENST00000220888.5_Missense_Mutation_p.L75F NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 75 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L88F(1)|p.L75F(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CTGCGCTTTTCAAGTCCTTCT 0.443000 Langer-Giedion syndrome 103 105 1.66795e-42 3.1691e-42 0.870114 1 0 TRBV6-9 28598 broad.mit.edu 37 7 142104318 142104318 + RNA SNP T T C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:142104318T>C ENST00000390379.1 - 0 146 AGGACAAGTATCCATGGTTCA 0.522000 63 110 0 0 0.870114 0 0 ATP9B 374868 broad.mit.edu 37 18 77107846 77107846 + Missense_Mutation SNP A A C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr18:77107846A>C ENST00000426216.2 + 24 2776 c.2759A>C c.(2758-2760)cAc>cCc p.H920P ATP9B_ENST00000543761.1_Missense_Mutation_p.H241P|ATP9B_ENST00000307671.7_Missense_Mutation_p.H920P NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 920 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity p.H920P(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CTCATGGTGCACGGGCGGAAC 0.607000 29 35 0 0 0.779181 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806724 6806724 + Silent SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:6806724A>G ENST00000307401.4 + 1 477 c.456A>G c.(454-456)gcA>gcG p.A152A NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A152A(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGATCCTGGCATCCCTAAGTG 0.522000 13 137 0 0 0.435327 0 0 SEMA5A 9037 broad.mit.edu 37 5 9066560 9066560 + Missense_Mutation SNP C C G rs139823470 byFrequency TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:9066560C>G ENST00000382496.5 - 17 2937 c.2272G>C c.(2272-2274)Gac>Cac p.D758H NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 758 TSP type-1 4. cell adhesion|cell-cell signaling integral to membrane|plasma membrane p.D758H(1) biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CTGGTGCCGTCGCTAGAACAG 0.512000 31 144 0 0 0.859065 0 0 PTK7 5754 broad.mit.edu 37 6 43127622 43127622 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:43127622G>T ENST00000230419.4 + 19 3191 c.2970G>T c.(2968-2970)tgG>tgT p.W990C PTK7_ENST00000345201.2_Missense_Mutation_p.W950C|PTK7_ENST00000349241.2_Missense_Mutation_p.W860C|PTK7_ENST00000352931.2_Missense_Mutation_p.W934C|PTK7_ENST00000481273.1_Missense_Mutation_p.W998C NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 990 Interaction with CTNNB1.|Protein kinase; inactive. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.W990C(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CTGATGTCTGGGCCTTCGGTG 0.592000 52 71 2.23044e-30 3.95531e-30 0.870114 1 0 EPHB3 2049 broad.mit.edu 37 3 184298540 184298540 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:184298540G>T ENST00000330394.2 + 13 2864 c.2412G>T c.(2410-2412)tgG>tgT p.W804C EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 804 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.W804C(1) breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CCATCCGCTGGACTGCCCCAG 0.632000 28 46 6.04164e-23 9.96122e-23 0.750413 1 0 USP28 57646 broad.mit.edu 37 11 113675615 113675615 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:113675615C>A ENST00000003302.4 - 20 2622 c.2554G>T c.(2554-2556)Gat>Tat p.D852Y USP28_ENST00000260188.5_Missense_Mutation_p.D820Y|USP28_ENST00000545540.1_Missense_Mutation_p.D695Y|USP28_ENST00000544967.1_Missense_Mutation_p.D528Y NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 852 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.D852Y(1) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) AGATTTTTATCTGCAAACTGT 0.443000 26 92 2.12542e-12 2.94459e-12 0.706142 1 0 PTPRD 5789 broad.mit.edu 37 9 8465465 8465465 + Splice_Site SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:8465465C>A ENST00000381196.4 - 29 4258 c.e29+1 PTPRD_ENST00000397606.3_Splice_Site|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site|PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.?(4) 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) AATTAACTTACAGACTCTGCA 0.383000 TSP Lung(15;0.13) 18 176 3.51602e-12 4.84591e-12 0.575678 1 0 TP53RK 112858 broad.mit.edu 37 20 45315857 45315857 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:45315857T>A ENST00000372102.3 - 2 327 c.302A>T c.(301-303)cAg>cTg p.Q101L Q96S44 PRPK_HUMAN TP53 regulating kinase 0 Protein kinase. lipopolysaccharide biosynthetic process membrane|nucleus ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P99P(1) kidney(1)|large_intestine(1)|lung(4)|skin(1) 7 Myeloproliferative disorder(115;0.0122) AAAAGACAACTGGGGCAGATA 0.363000 149 366 0 0 0.870114 0 0 CSMD3 114788 broad.mit.edu 37 8 113349007 113349007 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:113349007C>A ENST00000297405.5 - 44 7137 c.6893G>T c.(6892-6894)gGg>gTg p.G2298V CSMD3_ENST00000343508.3_Missense_Mutation_p.G2258V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2228V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2194V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2298 CUB 13. integral to membrane|plasma membrane p.G2298V(1)|p.G2258V(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 ATCAGGATACCCAGGAGAATA 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 166 9.95505e-16 1.46301e-15 0.624587 1 0 EPC2 26122 broad.mit.edu 37 2 149542268 149542268 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:149542268G>C ENST00000258484.6 + 13 2083 c.2049G>C c.(2047-2049)atG>atC p.M683I NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 683 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.M683I(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) CCACCAATATGGCTTTATCAT 0.393000 12 108 0 0 0.411799 0 0 ARL4D 379 broad.mit.edu 37 17 41477680 41477680 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:41477680G>T ENST00000320033.4 + 2 787 c.580G>T c.(580-582)Gct>Tct p.A194S NM_001661.3 NP_001652.2 P49703 ARL4D_HUMAN ADP-ribosylation factor-like 4D 194 protein secretion|small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|GTPase activity|protein binding p.A194S(1) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.155) GAAGAAGGCAGCTCGGGGTGG 0.617000 11 23 2.68362e-12 3.71149e-12 0.411799 1 0 MVP 9961 broad.mit.edu 37 16 29857194 29857194 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:29857194C>G ENST00000357402.5 + 12 2170 c.2032C>G c.(2032-2034)Cag>Gag p.Q678E MVP_ENST00000395353.1_Missense_Mutation_p.Q678E NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 678 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding p.Q678E(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GCATGAGGCTCAGAGACTGGA 0.642000 6 51 0 0 0.387290 0 0 USP48 84196 broad.mit.edu 37 1 22032301 22032301 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:22032301G>A ENST00000308271.9 - 19 2951 c.2303C>T c.(2302-2304)tCa>tTa p.S768L USP48_ENST00000400301.1_Missense_Mutation_p.S768L|USP48_ENST00000374732.3_Missense_Mutation_p.S306L|USP48_ENST00000529637.1_Missense_Mutation_p.S780L NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 768 DUSP 3. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.S768L(1) NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) GTTCCCAACTGATGACACAGG 0.408000 11 36 0 0 0.361761 0 0 PAK7 57144 broad.mit.edu 37 20 9546888 9546888 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:9546888G>T ENST00000378429.3 - 6 1680 c.1134C>A c.(1132-1134)caC>caA p.H378Q PAK7_ENST00000353224.5_Missense_Mutation_p.H378Q|PAK7_ENST00000378423.1_Missense_Mutation_p.H378Q NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 378 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.H378Q(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) AGGTGGCTTTGTGGTACCCAG 0.572000 76 199 4.03997e-35 7.39426e-35 0.870114 1 0 RGS20 8601 broad.mit.edu 37 8 54866724 54866724 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:54866724G>A ENST00000297313.3 + 5 924 c.832G>A c.(832-834)Gaa>Aaa p.E278K RGS20_ENST00000522225.1_Missense_Mutation_p.E12K|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000344277.6_Missense_Mutation_p.E163K|RGS20_ENST00000276500.4_Missense_Mutation_p.E131K NM_170587.2 NP_733466.1 O76081 RGS20_HUMAN regulator of G-protein signaling 20 278 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity p.E278K(1) breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) TGCATTCCGTGAATTCCTCCG 0.448000 120 119 0 0 0.870114 0 0 SCN11A 11280 broad.mit.edu 37 3 38951598 38951598 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:38951598G>T ENST00000302328.3 - 8 1258 c.1060C>A c.(1060-1062)Cgg>Agg p.R354R SCN11A_ENST00000456224.3_Silent_p.R354R|SCN11A_ENST00000444237.2_Silent_p.R354R|SCN11A_ENST00000450244.1_Silent_p.R354R NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 354 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.R354R(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTCATCAGCCGGAACATGGCA 0.408000 24 59 1.5548e-18 2.38602e-18 0.693898 1 0 TDO2 6999 broad.mit.edu 37 4 156841131 156841131 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:156841131G>T ENST00000536354.2 + 12 1274 c.1210G>T c.(1210-1212)Gaa>Taa p.E404* NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 404 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity p.E404*(1) breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CAGCAGTGATGAATCAGATTA 0.343000 11 107 4.68919e-08 5.69554e-08 0.361761 1 0 TTN 7273 broad.mit.edu 37 2 179428592 179428592 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:179428592C>T ENST00000589042.1 - 326 82491 c.82267G>A c.(82267-82269)Gag>Aag p.E27423K TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24855K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18358K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18483K|TTN_ENST00000342175.6_Missense_Mutation_p.E18550K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25782K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25782 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E24855K(1)|p.E18358K(1)|p.E18483K(1)|p.E18550K(1)|p.E24853K(1) 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) GCCTGTACCTCAGTTGAAACC 0.433000 26 134 0 0 0.729181 0 0 MARCH1 55016 broad.mit.edu 37 4 164534479 164534479 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:164534479G>T ENST00000503008.1 - 5 1205 c.229C>A c.(229-231)Cag>Aag p.Q77K MARCH1_ENST00000339875.5_Missense_Mutation_p.Q60K|MARCH1_ENST00000514618.1_Missense_Mutation_p.Q77K|MARCH1_ENST00000274056.7_Missense_Mutation_p.Q77K NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 77 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.Q60K(1)|p.Q77K(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAGATGTCCTGAGTGGATGGA 0.428000 52 56 7.62596e-35 1.39257e-34 0.870114 1 0 KRT73 319101 broad.mit.edu 37 12 53009975 53009975 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:53009975C>A ENST00000305748.3 - 2 671 c.637G>T c.(637-639)Gaa>Taa p.E213* NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 213 Coil 1B.|Rod. keratin filament structural molecule activity p.E213*(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TCCACCACTTCGCGCACGCTC 0.627000 26 121 1.1804e-14 1.70028e-14 0.667858 1 0 ITGAM 3684 broad.mit.edu 37 16 31332582 31332582 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:31332582C>T ENST00000544665.3 + 15 1802 c.1731C>T c.(1729-1731)ctC>ctT p.L577L ITGAM_ENST00000287497.8_Silent_p.L576L NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 576 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity p.L576L(1) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GCTCCAAGCTCTCTCCCAGGC 0.552000 124 272 0 0 0.870114 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174652687 174652687 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:174652687G>T ENST00000251507.4 + 15 2026 c.1852G>T c.(1852-1854)Ggg>Tgg p.G618W NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 618 Rab-GAP TBC. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity p.G618W(1) NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 TGAAGACATTGGGTACTGTCA 0.373000 77 215 2.13431e-38 3.9887e-38 0.870114 1 0 RYR2 6262 broad.mit.edu 37 1 237656366 237656366 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:237656366G>T ENST00000366574.2 + 19 2257 c.1940G>T c.(1939-1941)cGt>cTt p.R647L RYR2_ENST00000360064.6_Missense_Mutation_p.R645L|RYR2_ENST00000542537.1_Missense_Mutation_p.R631L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 647 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.R645L(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTGCAGACACGTCTTGTGAAC 0.438000 7 44 1.12685e-05 1.25766e-05 0.307466 1 0 HSD17B4 3295 broad.mit.edu 37 5 118824886 118824886 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:118824886G>T ENST00000504811.1 + 10 881 c.e10-1 HSD17B4_ENST00000256216.6_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity p.?(2) breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) CTTTATTTCAGATCTTGTGGA 0.358000 25 118 7.38237e-10 9.42581e-10 0.706142 1 0 ITPR2 3709 broad.mit.edu 37 12 26839527 26839527 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:26839527C>A ENST00000381340.3 - 11 1451 c.1035G>T c.(1033-1035)caG>caT p.Q345H NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 345 MIR 4. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.Q345H(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCTCCCCTGCCTGGCGTTTTT 0.413000 104 224 1.04275e-50 2.00993e-50 0.870114 1 0 GJA9 81025 broad.mit.edu 37 1 39341359 39341359 + Nonsense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:39341359G>A ENST00000454994.2 - 2 688 c.412C>T c.(412-414)Cag>Tag p.Q138* MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000360786.3_Nonsense_Mutation_p.Q138*|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000357771.3_Nonsense_Mutation_p.Q138* P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 138 cell communication connexon complex|integral to membrane p.Q138*(1) breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TTCTCCAGCTGACAAAGCTCT 0.443000 34 270 0 0 0.796494 0 0 UHRF2 115426 broad.mit.edu 37 9 6486881 6486881 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:6486881G>T ENST00000276893.5 + 9 1621 c.1453G>T c.(1453-1455)Ggg>Tgg p.G485W UHRF2_ENST00000485617.2_3'UTR NM_152896.2 NP_690856.1 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase 485 Methyl-CpG binding and interaction with HDAC1.|YDG. cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding p.G485W(1) cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1) 17 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) AAGTAATGATGGGGCTTATTC 0.413000 13 57 1.99824e-07 2.39069e-07 0.520397 1 0 SLITRK4 139065 broad.mit.edu 37 X 142716612 142716612 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:142716612G>T ENST00000381779.4 - 2 2538 c.2313C>A c.(2311-2313)agC>agA p.S771R SLITRK4_ENST00000356928.1_Missense_Mutation_p.S771R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S771R NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 771 integral to membrane p.S771R(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TGACACCTATGCTATTATACT 0.388000 97 185 9.86815e-39 1.84854e-38 0.870114 1 0 DFNB31 25861 broad.mit.edu 37 9 117185751 117185751 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:117185751C>T ENST00000362057.3 - 7 1637 c.1469G>A c.(1468-1470)cGc>cAc p.R490H DFNB31_ENST00000374059.3_Missense_Mutation_p.R139H|DFNB31_ENST00000265134.6_Missense_Mutation_p.R107H NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 490 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium p.R490H(1) central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTGGTCGAAGCGTTCTAGGTC 0.617000 17 109 0 0 0.557998 0 0 HIVEP2 3097 broad.mit.edu 37 6 143074281 143074281 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:143074281C>A ENST00000367603.2 - 10 8046 c.7304G>T c.(7303-7305)aGc>aTc p.S2435I RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S2435I|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S2435I NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S2435I(1) NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AGGATCTTTGCTTTCCTCTGT 0.388000 46 390 9.58827e-17 1.43285e-16 0.870114 1 0 IFNA21 3452 broad.mit.edu 37 9 21166379 21166379 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:21166379G>A ENST00000380225.1 - 1 280 c.233C>T c.(232-234)tCt>tTt p.S78F NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 78 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding p.S78F(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATGGAGGACAGAGATGGCTTG 0.483000 61 141 0 0 0.870114 0 0 DIP2B 57609 broad.mit.edu 37 12 51034617 51034617 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:51034617G>T ENST00000301180.5 + 3 317 c.283G>T c.(283-285)Gat>Tat p.D95Y NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 95 nucleus catalytic activity|transcription factor binding p.D95Y(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 GGGAGCCAGGGATGAACGATA 0.478000 7 70 0.248553 0.250752 0.248553 1 0 MMP12 4321 broad.mit.edu 37 11 102742386 102742386 + RNA SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:102742386C>G ENST00000532855.1 - 0 659 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.G188A(1) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AATGCCAGATCCAGGTCCAAA 0.423000 4 10 0 0 0.150653 0 0 DBX1 120237 broad.mit.edu 37 11 20178654 20178654 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:20178654G>T ENST00000524983.2 - 3 889 c.601C>A c.(601-603)Cag>Aag p.Q201K DBX1_ENST00000227256.3_Missense_Mutation_p.Q201K A6NMT0 DBX1_HUMAN developing brain homeobox 1 201 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F200_Q201>LK(1) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 TTCTGCTTCTGGAACATCTTC 0.652000 5 34 4.096e-09 5.14741e-09 0.217242 1 0 MYLK 4638 broad.mit.edu 37 3 123444857 123444857 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:123444857G>T ENST00000360772.3 - 13 1963 c.1585C>A c.(1585-1587)Cag>Aag p.Q529K MYLK_ENST00000360304.3_Missense_Mutation_p.Q529K|MYLK_ENST00000359169.1_Missense_Mutation_p.Q529K|MYLK_ENST00000346322.5_Missense_Mutation_p.Q460K|MYLK_ENST00000475616.1_Missense_Mutation_p.Q529K Q15746 MYLK_HUMAN myosin light chain kinase 529 Ig-like C2-type 4. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.Q529K(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ACAAAATCCTGGCCCTCAATA 0.607000 12 36 2.27111e-07 2.70904e-07 0.411799 1 0 MAP1S 55201 broad.mit.edu 37 19 17838467 17838467 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:17838467G>T ENST00000324096.4 + 5 2425 c.2274G>T c.(2272-2274)gcG>gcT p.A758A MAP1S_ENST00000544059.2_Silent_p.A732A|MAP1S_ENST00000597681.1_3'UTR NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 758 Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding p.A758A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 CGGCACCTGCGTCCCCCGGCA 0.682000 11 15 7.03913e-09 8.80442e-09 0.411799 1 0 TOP3A 7156 broad.mit.edu 37 17 18194199 18194199 + Missense_Mutation SNP C C T rs144590444 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:18194199C>T ENST00000321105.5 - 12 1638 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q TOP3A_ENST00000542570.1_Missense_Mutation_p.R380Q|TOP3A_ENST00000540524.1_Missense_Mutation_p.R5Q NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 475 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding p.R475Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 CAGATAGTTTCGGGCCAGAAT 0.537000 33 51 0 0 0.760397 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 53 0 0 0.184627 0 0 TNC 3371 broad.mit.edu 37 9 117810677 117810677 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:117810677G>T ENST00000350763.4 - 16 5125 c.4714C>A c.(4714-4716)Ccc>Acc p.P1572T TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000341037.4_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.P1208T|TNC_ENST00000537320.1_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1572 Fibronectin type-III 11. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding p.P1572T(1) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AATTCCTGGGGGTCCAGCAGC 0.517000 15 63 2.31682e-05 2.56425e-05 0.479597 1 0 LHFPL5 222662 broad.mit.edu 37 6 35773737 35773737 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:35773737C>T ENST00000360215.1 + 1 667 c.290C>T c.(289-291)gCc>gTc p.A97V LHFPL5_ENST00000373853.1_Missense_Mutation_p.A97V NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 97 integral to membrane p.A97F(1) endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 TTCAAGACTGCCATGTTCTTT 0.532000 82 92 0 0 0.870114 0 0 CCNB3 85417 broad.mit.edu 37 X 50052963 50052963 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:50052963G>T ENST00000376042.1 + 6 2092 c.1794G>T c.(1792-1794)atG>atT p.M598I CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M598I|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 598 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding p.M598I(2) breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) AGGGGAAGATGTCCCACTTAA 0.423000 13 43 0.00136819 0.00143283 0.411799 1 0 GDF9 2661 broad.mit.edu 37 5 132199862 132199862 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:132199862G>A ENST00000378673.2 - 2 1230 c.364C>T c.(364-366)Cgg>Tgg p.R122W GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Missense_Mutation_p.R122W O60383 GDF9_HUMAN growth differentiation factor 9 122 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity p.R122W(1) NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCTTGTGCCGGGTACAGGGG 0.463000 18 137 0 0 0.557998 0 0 DPP10 57628 broad.mit.edu 37 2 116447469 116447469 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:116447469C>T ENST00000410059.1 + 7 1028 c.548C>T c.(547-549)gCg>gTg p.A183V DPP10_ENST00000393147.2_Missense_Mutation_p.A187V|DPP10_ENST00000310323.8_Missense_Mutation_p.A176V|DPP10_ENST00000409163.1_Missense_Mutation_p.A133V|DPP10_ENST00000488208.1_3'UTR NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 183 proteolysis integral to membrane|membrane fraction serine-type peptidase activity p.A176V(1)|p.A183V(1) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TTGCAGTACGCGGCCTGGGGT 0.443000 8 156 0 0 0.278610 0 0 NPVF 64111 broad.mit.edu 37 7 25266430 25266430 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:25266430C>T ENST00000222674.2 - 2 400 c.354G>A c.(352-354)gtG>gtA p.V118V NM_022150.3 NP_071433.3 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 118 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity p.V118V(1) cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 TCACGAGGCTCACCTCCATAT 0.493000 32 190 0 0 0.796494 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532569 71532569 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:71532569G>T ENST00000265382.3 + 9 1182 c.877G>T c.(877-879)Gat>Tat p.D293Y PIP5K1B_ENST00000541509.1_Missense_Mutation_p.D293Y NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 293 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding p.D293Y(1) breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) AAATGTGCCTGATGCTAAGCG 0.473000 62 244 2.69953e-25 4.56404e-25 0.870114 1 0 PTPRB 5787 broad.mit.edu 37 12 70989842 70989842 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:70989842G>A ENST00000334414.6 - 5 1289 c.1245C>T c.(1243-1245)acC>acT p.T415T PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Silent_p.T197T|PTPRB_ENST00000551525.1_Silent_p.T414T|PTPRB_ENST00000538708.1_Silent_p.T197T|PTPRB_ENST00000550358.1_Silent_p.T415T|PTPRB_ENST00000261266.5_Silent_p.T197T|PTPRB_ENST00000451516.2_Silent_p.T197T NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 197 Fibronectin type-III 5. D -> E (in dbSNP:rs2165627). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.T197T(2)|p.T415T(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTGATCCATTGGTATAAACTG 0.333000 10 33 0 0 0.387290 0 0 SAMD9 54809 broad.mit.edu 37 7 92734591 92734591 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:92734591C>T ENST00000379958.2 - 3 1089 c.820G>A c.(820-822)Gac>Aac p.D274N NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 274 cytoplasm p.D274N(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ACTTGATGGTCTTCAAAATAC 0.378000 19 202 0 0 0.575678 0 0 NTM 50863 broad.mit.edu 37 11 132184465 132184465 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:132184465G>T ENST00000374786.1 + 6 1281 c.802G>T c.(802-804)Ggg>Tgg p.G268W NTM_ENST00000425719.2_Missense_Mutation_p.G268W|NTM_ENST00000374784.1_Missense_Mutation_p.G268W|NTM_ENST00000427481.2_Missense_Mutation_p.G259W|NTM_ENST00000539799.1_Missense_Mutation_p.G268W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.G268W NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 268 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane p.G268W(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 AGGAAAGAAAGGGGTGAAAGT 0.418000 17 101 2.94398e-08 3.6143e-08 0.557998 1 0 THBS2 7058 broad.mit.edu 37 6 169626293 169626293 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:169626293C>A ENST00000366787.3 - 17 2769 c.2520G>T c.(2518-2520)ctG>ctT p.L840L XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 840 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.L840L(1) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGTTGTGCACCAGGGGGCAGT 0.607000 8 34 0.000157383 0.000169033 0.278610 1 0 CDH7 1005 broad.mit.edu 37 18 63489400 63489400 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr18:63489400G>T ENST00000536984.2 + 5 1403 c.709G>T c.(709-711)Ggt>Tgt p.G237C CDH7_ENST00000397968.2_Missense_Mutation_p.G237C|CDH7_ENST00000323011.3_Missense_Mutation_p.G237C Q9ULB5 CADH7_HUMAN cadherin 7, type 2 237 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G237C(2) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GGATATGGTTGGTCAAAATGG 0.418000 44 49 2.45108e-15 3.5758e-15 0.840704 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140730944 140730944 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:140730944G>T ENST00000523390.1 + 1 1117 c.1117G>T c.(1117-1119)Ggg>Tgg p.G373W PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 p.G373W(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGGATTCTGGGCAAAATGG 0.448000 4 21 0.00909568 0.00942643 0.150653 1 0 MAPK3 5595 broad.mit.edu 37 16 30129407 30129407 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:30129407C>A ENST00000484663.1 - 3 1412 c.279G>T c.(277-279)acG>acT p.T93T MAPK3_ENST00000263025.4_Silent_p.T207T|MAPK3_ENST00000395202.1_Silent_p.T207T|MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000403394.1_Silent_p.T207T|MAPK3_ENST00000395199.3_Silent_p.T207T|MAPK3_ENST00000322266.5_Silent_p.T207T P27361 MK03_HUMAN mitogen-activated protein kinase 3 207 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding p.T207T(1) Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) GGTACCAGCGCGTAGCCACAT 0.587000 9 30 1.49906e-05 1.66377e-05 0.457914 1 0 TUBGCP6 85378 broad.mit.edu 37 22 50656678 50656678 + Missense_Mutation SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr22:50656678A>G ENST00000248846.5 - 23 5212 c.5108T>C c.(5107-5109)gTg>gCg p.V1703A TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1703 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding p.V1703A(1) breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CAGGTCGCCCACGGTGGCCAA 0.632000 22 35 0 0 0.654019 0 0 LYST 1130 broad.mit.edu 37 1 235993715 235993715 + Translation_Start_Site SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:235993715C>T ENST00000389794.3 - 3 177 c.3G>A c.(1-3)atG>atA p.M1I LYST_ENST00000536965.1_Start_Codon_SNP_p.M1I|LYST_ENST00000389793.2_Start_Codon_SNP_p.M1I Q99698 LYST_HUMAN lysosomal trafficking regulator 1 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding p.M1I(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGTCGGTGCTCATGACCGAGC 0.393000 21 49 0 0 0.624587 0 0 IGKV1D-17 28900 broad.mit.edu 37 2 90122050 90122050 + RNA SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:90122050G>T ENST00000483379.1 + 0 449 CAGTGGATCTGGGACAGAATT 0.483000 47 174 6.08268e-21 9.59284e-21 0.870114 1 0 ZNF385D 79750 broad.mit.edu 37 3 21478546 21478546 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:21478546C>A ENST00000281523.2 - 5 1107 c.589G>T c.(589-591)Gaa>Taa p.E197* ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 197 nucleus nucleic acid binding|zinc ion binding p.E197*(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GCCTTTTCTTCCTCGGTCTCA 0.498000 55 125 7.45626e-27 1.28512e-26 0.870114 1 0 PDE8A 5151 broad.mit.edu 37 15 85657227 85657227 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:85657227G>A ENST00000310298.4 + 15 1561 c.1309G>A c.(1309-1311)Gat>Aat p.D437N PDE8A_ENST00000394553.1_Missense_Mutation_p.D437N|PDE8A_ENST00000557957.1_Missense_Mutation_p.D365N|PDE8A_ENST00000339708.5_Missense_Mutation_p.D391N O60658 PDE8A_HUMAN phosphodiesterase 8A 437 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity p.D437N(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TGCTAAAGATGATGATCCCCA 0.453000 40 85 0 0 0.827153 0 0 CFAP54 144535 broad.mit.edu 37 12 97093849 97093849 + Missense_Mutation SNP A A C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:97093849A>C ENST00000524981.3 + 13 1805 c.1805A>C c.(1804-1806)tAt>tCt p.Y602S Q6ZTY8 CL063_HUMAN 576 p.Y576S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CCTGCAGGCTATAAAGCCACT 0.353000 21 178 0 0 0.608945 0 0 CCDC73 493860 broad.mit.edu 37 11 32634980 32634980 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:32634980C>T ENST00000335185.5 - 16 2927 c.2884G>A c.(2884-2886)Gat>Aat p.D962N NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 962 p.D962N(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) GGTCCAATATCCTTTCCAACA 0.299000 80 129 0 0 0.870114 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269287 30269287 + Missense_Mutation SNP T T G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:30269287T>G ENST00000378981.3 + 4 998 c.677T>G c.(676-678)gTg>gGg p.V226G MAGEB1_ENST00000397550.1_Missense_Mutation_p.V226G|MAGEB1_ENST00000397548.2_Missense_Mutation_p.V226G NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 226 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 TTCATGAATGTGTTGGGAGCC 0.488000 13 27 0 0 0.479597 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31713049 31713049 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:31713049C>T ENST00000493662.2 + 9 826 c.770C>T c.(769-771)tCa>tTa p.S257L MSH5_ENST00000534153.4_Missense_Mutation_p.S257L|MSH5_ENST00000375750.3_Missense_Mutation_p.S240L|MSH5_ENST00000482280.1_Intron|MSH5_ENST00000431848.2_Intron|MSH5_ENST00000375703.3_Missense_Mutation_p.S240L|MSH5_ENST00000375740.3_Missense_Mutation_p.S257L|MSH5_ENST00000375742.3_Missense_Mutation_p.S257L|MSH5_ENST00000375755.3_Missense_Mutation_p.S240L p.S257L(1)|p.S240L(1) TCTCACCCCTCAGTGTACAAA 0.473000 16 145 0 0 0.575678 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44611518 44611518 + Missense_Mutation SNP C C T rs146457545 by1000genomes TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:44611518C>T ENST00000273320.3 + 6 1345 c.916C>T c.(916-918)Cct>Tct p.P306S ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.P306S|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 p.P306S(1) TGGGGTGGTTCCTGGGGCAGC 0.438000 50 201 0 0 0.870114 0 0 DACH2 117154 broad.mit.edu 37 X 86068172 86068172 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:86068172G>T ENST00000373131.1 + 8 1553 c.1390G>T c.(1390-1392)Gag>Tag p.E464* DACH2_ENST00000373125.4_Nonsense_Mutation_p.E477*|DACH2_ENST00000510272.1_Nonsense_Mutation_p.E258*|DACH2_ENST00000508860.1_Nonsense_Mutation_p.E310*|DACH2_ENST00000477378.2_3'UTR NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 477 DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding p.E464*(1)|p.E477*(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 TCGCATCCAGGAGAAGCAGAT 0.393000 15 23 6.72482e-11 8.81184e-11 0.479597 1 0 FOCAD 54914 broad.mit.edu 37 9 20944668 20944668 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:20944668G>C ENST00000380249.1 + 31 3814 c.3450G>C c.(3448-3450)atG>atC p.M1150I FOCAD_ENST00000338382.6_Missense_Mutation_p.M1150I|FOCAD_ENST00000605086.1_Missense_Mutation_p.M586I NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1150 integral to membrane binding p.M1150I(1) TGTCCCTCATGAGCCACAGCA 0.502000 6 78 0 0 0.278610 0 0 LRP1B 53353 broad.mit.edu 37 2 141665495 141665495 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:141665495G>T ENST00000389484.3 - 22 4442 c.3471C>A c.(3469-3471)tgC>tgA p.C1157* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1157 LDL-receptor class A 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.C1157*(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTCCCATTGCAGAGTTTCT 0.438000 TSP Lung(27;0.18) 31 219 6.38683e-12 8.72721e-12 0.729181 1 0 TTN 7273 broad.mit.edu 37 2 179411766 179411766 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:179411766C>T ENST00000589042.1 - 340 94710 c.94486G>A c.(94486-94488)Gaa>Aaa p.E31496K TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28928K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22431K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22556K|TTN_ENST00000342175.6_Missense_Mutation_p.E22623K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29855K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29855 Ig-like 140. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E28926K(1)|p.E22431K(1)|p.E28928K(1)|p.E22623K(1)|p.E22556K(1) 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) CTTGAAGCTTCGCTGGCCTTG 0.388000 7 286 0 0 0.278610 0 0 COL7A1 1294 broad.mit.edu 37 3 48630049 48630049 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:48630049G>A ENST00000328333.8 - 7 1037 c.930C>T c.(928-930)ctC>ctT p.L310L COL7A1_ENST00000454817.1_Silent_p.L310L NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 310 Fibronectin type-III 1.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.L310L(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGTTGGCGTAGAGGGCAATCA 0.632000 13 63 0 0 0.520397 0 0 HDGFRP3 50810 broad.mit.edu 37 15 83820030 83820030 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:83820030C>A ENST00000299633.4 - 5 1146 c.543G>T c.(541-543)gaG>gaT p.E181D NM_016073.3 NP_057157.1 Q9Y3E1 HDGR3_HUMAN 181 cell proliferation nucleus growth factor activity p.E181D(1) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 CATCTCCACCCTCAGAGCTGC 0.418000 64 92 8.52622e-23 1.39425e-22 0.870114 1 0 RALGAPA1 253959 broad.mit.edu 37 14 36154336 36154336 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:36154336C>A ENST00000258840.6 - 20 3106 c.2716G>T c.(2716-2718)Gga>Tga p.G906* RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.G859*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.G872*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.G859* Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 859 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity p.G859*(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGACTACTTCCTCTTCTTGTC 0.403000 4 4 0.00909568 0.00942643 0.150653 1 0 TSKS 60385 broad.mit.edu 37 19 50249744 50249744 + Silent SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:50249744G>C ENST00000246801.3 - 6 1057 c.975C>G c.(973-975)acC>acG p.T325T TSKS_ENST00000358830.3_Silent_p.T125T NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 325 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CTTCGATGCCGGTGAACAGCT 0.697000 13 26 0 0 0.479597 0 0 SCN10A 6336 broad.mit.edu 37 3 38835299 38835299 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:38835299C>A ENST00000449082.2 - 1 202 c.203G>T c.(202-204)gGt>gTt p.G68V NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 68 sensory perception voltage-gated sodium channel complex p.G68V(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGGGAGCTCACCATAGAACTT 0.547000 54 180 6.4308e-24 1.06912e-23 0.870114 1 0 PTPRR 5801 broad.mit.edu 37 12 71054789 71054789 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:71054789T>A ENST00000283228.2 - 12 2149 c.1697A>T c.(1696-1698)cAg>cTg p.Q566L PTPRR_ENST00000549308.1_Missense_Mutation_p.Q321L|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Missense_Mutation_p.Q321L|PTPRR_ENST00000378778.1_Missense_Mutation_p.Q360L|PTPRR_ENST00000342084.4_Missense_Mutation_p.Q454L NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 566 Tyrosine-protein phosphatase. in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.Q566L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) CAGCATGAGCTGTAGGAGGGG 0.527000 14 45 0 0 0.500413 0 0 COL4A5 1287 broad.mit.edu 37 X 107802372 107802372 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:107802372C>T ENST00000328300.6 + 3 464 c.220C>T c.(220-222)Cgg>Tgg p.R74W COL4A5_ENST00000361603.2_Missense_Mutation_p.R74W NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 74 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.R74W(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCCGGGGCCTCGGGGACAAAA 0.463000 Alport syndrome with Diffuse Leiomyomatosis 27 122 0 0 0.717897 0 0 FRMD7 90167 broad.mit.edu 37 X 131261870 131261870 + Translation_Start_Site SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:131261870C>T ENST00000298542.4 - 1 178 c.3G>A c.(1-3)atG>atA p.M1I FRMD7_ENST00000464296.1_Start_Codon_SNP_p.M1I|RP1-305B16.2_ENST00000513703.1_RNA NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 1 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding p.M1I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TTAAATGTAGCATTCTCAGCG 0.458000 41 66 0 0 0.853193 0 0 FLNA 2316 broad.mit.edu 37 X 153590122 153590122 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:153590122C>A ENST00000422373.1 - 20 3108 c.2860G>T c.(2860-2862)Gat>Tat p.D954Y FLNA_ENST00000360319.4_Missense_Mutation_p.D954Y|FLNA_ENST00000344736.4_Missense_Mutation_p.D954Y|FLNA_ENST00000369850.3_Missense_Mutation_p.D954Y NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 954 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding p.D954Y(1) breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGATGGGATCCCCTCCATAA 0.562000 22 45 1.5548e-18 2.38602e-18 0.693898 1 0 TTC14 151613 broad.mit.edu 37 3 180322691 180322691 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:180322691G>C ENST00000412756.2 + 6 822 c.753G>C c.(751-753)atG>atC p.M251I TTC14_ENST00000296015.4_Missense_Mutation_p.M251I|TTC14_ENST00000382584.4_Missense_Mutation_p.M251I NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 251 RNA binding p.M251I(1) endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAAATGTCATGCAGAGTTCCT 0.333000 31 74 0 0 0.769981 0 0 EFCAB1 79645 broad.mit.edu 37 8 49641660 49641660 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:49641660C>A ENST00000433756.1 - 4 520 c.361G>T c.(361-363)Gct>Tct p.A121S EFCAB1_ENST00000523092.1_Missense_Mutation_p.A121S|EFCAB1_ENST00000262103.3_Missense_Mutation_p.A173S|EFCAB1_ENST00000521002.1_5'UTR NM_001142857.1 NP_001136329.1 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 173 EF-hand 2. calcium ion binding p.A173S(1) endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2) 14 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) TCTCTCACAGCCAGTTCATAG 0.423000 19 143 2.52088e-20 3.94443e-20 0.639603 1 0 GPR39 2863 broad.mit.edu 37 2 133174633 133174633 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:133174633C>T ENST00000329321.3 + 1 487 c.18C>T c.(16-18)ctC>ctT p.L6L NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 6 integral to plasma membrane G-protein coupled receptor activity|metal ion binding p.L6L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CACCCAGCCTCCCGGGCAGTG 0.522000 17 70 0 0 0.557998 0 0 ROBO1 6091 broad.mit.edu 37 3 78763638 78763638 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:78763638C>A ENST00000436010.2 - 6 1834 c.837G>T c.(835-837)agG>agT p.R279S ROBO1_ENST00000464233.1_Missense_Mutation_p.R318S|ROBO1_ENST00000467549.1_Missense_Mutation_p.R279S|ROBO1_ENST00000495273.1_Missense_Mutation_p.R279S Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 318 Ig-like C2-type 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding p.R318S(2)|p.R295S(1)|p.R279S(1) breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CTGTCACCTTCCTAATTTTCA 0.378000 11 52 3.86212e-05 4.22188e-05 0.361761 1 0 PLD1 5337 broad.mit.edu 37 3 171426594 171426594 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:171426594C>G ENST00000356327.5 - 11 1166 c.1096G>C c.(1096-1098)Gca>Cca p.A366P PLD1_ENST00000342215.6_Missense_Mutation_p.A366P|PLD1_ENST00000351298.4_Missense_Mutation_p.A366P|PLD1_ENST00000340989.4_Missense_Mutation_p.A366P NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 366 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity p.A366P(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ATTGCATTTGCCACATCTTCA 0.318000 27 106 0 0 0.706142 0 0 P4HA2 8974 broad.mit.edu 37 5 131544999 131544999 + Silent SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:131544999C>G ENST00000401867.1 - 8 1303 c.735G>C c.(733-735)ggG>ggC p.G245G P4HA2_ENST00000379086.1_Silent_p.G245G|P4HA2_ENST00000379100.2_Silent_p.G245G|P4HA2_ENST00000360568.3_Silent_p.G245G|P4HA2_ENST00000166534.4_Silent_p.G245G|P4HA2_ENST00000379104.2_Silent_p.G245G O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 245 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding p.G245G(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) ACCGCAGATTCCCTCCAGCTC 0.423000 40 255 0 0 0.834066 0 0 PTPRT 11122 broad.mit.edu 37 20 41076866 41076866 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:41076866G>T ENST00000373198.3 - 9 1789 c.1554C>A c.(1552-1554)ctC>ctA p.L518L PTPRT_ENST00000373201.1_Silent_p.L518L|PTPRT_ENST00000373184.1_Silent_p.L518L|PTPRT_ENST00000373190.1_Silent_p.L518L|PTPRT_ENST00000373187.1_Silent_p.L518L|PTPRT_ENST00000373193.3_Silent_p.L518L|PTPRT_ENST00000356100.2_Silent_p.L518L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 518 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.Y519N(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTACCTCGTAGAGCGTGATGA 0.493000 97 249 9.07443e-57 1.76619e-56 0.870114 1 0 SFRP4 6424 broad.mit.edu 37 7 37951860 37951860 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:37951860C>T ENST00000436072.2 - 4 1029 c.652G>A c.(652-654)Gtg>Atg p.V218M EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 218 NTR. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.V218M(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 TTTACATCCACCACCGTTGTG 0.433000 16 69 0 0 0.479597 0 0 TRPC5 7224 broad.mit.edu 37 X 111097033 111097033 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:111097033G>T ENST00000262839.2 - 4 2120 c.1202C>A c.(1201-1203)aCt>aAt p.T401N NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 401 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity p.T401N(1) biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTCCACGACAGTTGGGGGAGG 0.488000 43 89 5.34276e-22 8.57851e-22 0.870114 1 0 KIAA1377 57562 broad.mit.edu 37 11 101786111 101786111 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:101786111G>C ENST00000263468.8 + 1 366 c.96G>C c.(94-96)gaG>gaC p.E32D ANGPTL5_ENST00000334289.3_Intron NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 32 protein binding p.E32D(1) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GCCCTCGGGAGAGCGGCGGGC 0.637000 28 107 0 0 0.788014 0 0 ZNF536 9745 broad.mit.edu 37 19 30934598 30934598 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:30934598C>T ENST00000355537.3 + 2 276 c.129C>T c.(127-129)ctC>ctT p.L43L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.L43L(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCTCCCAGCTCAGCCATGCCT 0.672000 9 72 0 0 0.361761 0 0 MLLT11 10962 broad.mit.edu 37 1 151039792 151039792 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:151039792G>A ENST00000368921.3 + 2 2894 c.92G>A c.(91-93)gGt>gAt p.G31D CDC42SE1_ENST00000439374.2_5'UTR NM_006818.3 NP_006809.1 Q13015 AF1Q_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 31 positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent p.G31D(1) upper_aerodigestive_tract(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GAAGGCCTGGGTCTGTCAGAT 0.522000 27 161 0 0 0.693898 0 0 CLMN 79789 broad.mit.edu 37 14 95670781 95670781 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:95670781T>A ENST00000298912.4 - 9 1018 c.905A>T c.(904-906)gAt>gTt p.D302V NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 302 integral to membrane actin binding p.D302V(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) AACTTCTTTATCTGAATCGAA 0.353000 4 100 0 0 0.184627 0 0 FMN2 56776 broad.mit.edu 37 1 240371460 240371460 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:240371460G>A ENST00000319653.9 + 5 3578 c.3348G>A c.(3346-3348)gcG>gcA p.A1116A NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1116 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.A1259A(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TACCCGGAGCGGGCATACCCC 0.716000 5 7 0 0 0.184627 0 0 FAM47A 158724 broad.mit.edu 37 X 34149849 34149849 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:34149849G>T ENST00000346193.3 - 1 598 c.547C>A c.(547-549)Ccc>Acc p.P183T NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 183 Pro-rich. p.P183T(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TCCCCACAGGGATGTTTACCA 0.597000 23 39 7.92952e-12 1.07432e-11 0.667858 1 0 MUC16 94025 broad.mit.edu 37 19 9086151 9086151 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:9086151C>A ENST00000397910.4 - 1 5867 c.5664G>T c.(5662-5664)atG>atT p.M1888I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1888 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.M1888I(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCTGTTTCCCATAGACAGGG 0.502000 31 62 2.47316e-13 3.45031e-13 0.779181 1 0 CAMTA1 23261 broad.mit.edu 37 1 7811344 7811344 + Missense_Mutation SNP A A G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:7811344A>G ENST00000303635.7 + 20 4982 c.4775A>G c.(4774-4776)cAg>cGg p.Q1592R CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q1578R|CAMTA1_ENST00000476864.1_Missense_Mutation_p.Q156R NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1592 IQ 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.Q1592R(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AAATTCCAGCAGAGCCGACGG 0.463000 T WWTR1 epitheliod hemangioendothelioma 113 176 0 0 0.870114 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3638995 3638995 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:3638995C>A ENST00000335312.3 - 16 1895 c.1807G>T c.(1807-1809)Ggt>Tgt p.G603C PIP5K1C_ENST00000589578.1_Missense_Mutation_p.G603C|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.G603C|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.G603C NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 603 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding p.G603C(1) large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GCAGAGGCACCGGCCGGGGAA 0.692000 8 17 7.48243e-07 8.71676e-07 0.335167 1 0 LYPD1 116372 broad.mit.edu 37 2 133427484 133427484 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:133427484C>T ENST00000397463.2 - 1 294 c.22G>A c.(22-24)Gca>Aca p.A8T LYPD1_ENST00000345008.6_Intron NM_144586.5 NP_653187.3 Q8N2G4 LYPD1_HUMAN LY6/PLAUR domain containing 1 8 anchored to membrane|plasma membrane p.A8T(1) lung(2) 2 CAAAAAGTTGCCGCGATGCCT 0.647000 3 22 0 0 0.150653 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118368610 118368610 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:118368610C>T ENST00000528052.1 + 13 1457 c.1386C>T c.(1384-1386)ctC>ctT p.L462L PNLIPRP1_ENST00000358834.4_Silent_p.L462L|PNLIPRP1_ENST00000534537.1_Silent_p.L462L P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 462 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity p.L462L(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) ACACGCTGCTCACCCTCACGC 0.542000 6 70 0 0 0.278610 0 0 OR13G1 441933 broad.mit.edu 37 1 247835530 247835530 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:247835530C>A ENST00000359688.2 - 1 835 c.814G>T c.(814-816)Gct>Tct p.A272S RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A272S(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TAGAGTGCAGCTACCACCTTG 0.453000 48 137 1.08114e-33 1.96526e-33 0.870114 1 0 IGKV1D-17 28900 broad.mit.edu 37 2 90122051 90122051 + RNA SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:90122051G>T ENST00000483379.1 + 0 450 AGTGGATCTGGGACAGAATTC 0.483000 45 171 3.39706e-21 5.41088e-21 0.870114 1 0 SLC38A10 124565 broad.mit.edu 37 17 79246366 79246366 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:79246366G>A ENST00000374759.3 - 9 1357 c.974C>T c.(973-975)aCc>aTc p.T325I SLC38A10_ENST00000288439.5_Missense_Mutation_p.T325I|SLC38A10_ENST00000546352.1_Intron NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 325 amino acid transport|sodium ion transport integral to membrane p.T325I(2) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CACAGAGAGGGTAAGTGCTTT 0.537000 49 112 0 0 0.870114 0 0 LRRC32 2615 broad.mit.edu 37 11 76376990 76376990 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:76376990G>T ENST00000407242.2 - 2 251 c.9C>A c.(7-9)ccC>ccA p.P3P LRRC32_ENST00000464145.1_5'UTR|LRRC32_ENST00000260061.5_Silent_p.P3P|LRRC32_ENST00000404995.1_Silent_p.P3P NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 3 integral to plasma membrane p.P3P(1) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GCAGGATCTGGGGTCTCATGG 0.597000 36 151 6.33695e-27 1.09456e-26 0.834066 1 0 MLH3 27030 broad.mit.edu 37 14 75515236 75515236 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:75515236C>T ENST00000355774.2 - 2 1338 c.1123G>A c.(1123-1125)Gat>Aat p.D375N MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.D375N|MLH3_ENST00000556740.1_Missense_Mutation_p.D375N|MLH3_ENST00000556257.1_Missense_Mutation_p.D375N NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 375 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.D375N(2) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) AGAGTAGCATCAAATAAACTA 0.328000 Mismatch excision repair (MMR) 11 59 0 0 0.387290 0 0 RIF1 55183 broad.mit.edu 37 2 152317652 152317652 + Splice_Site SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:152317652C>G ENST00000243326.4 + 26 3559 c.3075_splice c.e26-1 p.L1026_splice RIF1_ENST00000453091.2_Splice_Site_p.L1026_splice|RIF1_ENST00000444746.2_Splice_Site_p.L1026_splice|RIF1_ENST00000428287.2_Splice_Site_p.L1026_splice|RIF1_ENST00000430328.2_Splice_Site_p.L1026_splice Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1026 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding p.L1026V(1) NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AAATCTGCAGCTGAAACTTGA 0.318000 16 110 0 0 0.500413 0 0 AGBL1 123624 broad.mit.edu 37 15 86807844 86807844 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:86807844C>T ENST00000441037.2 + 10 1399 c.1304C>T c.(1303-1305)tCc>tTc p.S435F AGBL1_ENST00000389298.3_Missense_Mutation_p.S166F|AGBL1_ENST00000421325.2_Missense_Mutation_p.S435F NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 435 S -> P (in dbSNP:rs11857527). C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.S435F(1) NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATGAGTGCCTCCTTTTCTAAT 0.448000 42 167 0 0 0.834066 0 0 PTPRK 5796 broad.mit.edu 37 6 128403663 128403663 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:128403663T>A ENST00000368227.3 - 10 2062 c.1696A>T c.(1696-1698)Acg>Tcg p.T566S PTPRK_ENST00000368207.3_Missense_Mutation_p.T566S|PTPRK_ENST00000532331.1_Missense_Mutation_p.T566S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368210.3_Missense_Mutation_p.T566S|PTPRK_ENST00000368213.5_Missense_Mutation_p.T566S|PTPRK_ENST00000368215.3_Missense_Mutation_p.T566S|PTPRK_ENST00000368226.4_Missense_Mutation_p.T566S|PTPRK_ENST00000524481.1_5'UTR Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 566 Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.T566S(1) PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AACTGGTACGTGGTTCCAGGG 0.453000 76 122 0 0 0.870114 0 0 MMP16 4325 broad.mit.edu 37 8 89209476 89209476 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:89209476G>A ENST00000286614.6 - 2 473 c.192C>T c.(190-192)cgC>cgT p.R64R MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 64 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.R64R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TCTCTGCAGAGCGCAGCACTG 0.443000 40 47 0 0 0.812448 0 0 LOR 4014 broad.mit.edu 37 1 153233489 153233489 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:153233489G>A ENST00000368742.3 + 2 121 c.64G>A c.(64-66)Ggc>Agc p.G22S NM_000427.2 NP_000418.2 P23490 LORI_HUMAN loricrin 22 keratinization|peptide cross-linking cornified envelope|cytoplasm|insoluble fraction|nucleoplasm protein binding, bridging|structural constituent of cytoskeleton p.G22S(1) lung(2) 2 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GACCTCTggcggcggtggcgg 0.672000 7 18 0 0 0.248553 0 0 ARID3C 138715 broad.mit.edu 37 9 34623960 34623960 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:34623960C>A ENST00000378909.2 - 3 568 c.476G>T c.(475-477)gGc>gTc p.G159V NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 159 ARID. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.G159V(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) TTCCACCAGGCCGCCCTTGGC 0.662000 4 8 0.184627 0.186733 0.184627 1 0 MAPT 4137 broad.mit.edu 37 17 44049287 44049287 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:44049287G>T ENST00000344290.5 + 3 518 c.196G>T c.(196-198)Gct>Tct p.A66S MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Missense_Mutation_p.A66S|MAPT_ENST00000571987.1_Missense_Mutation_p.A66S|MAPT_ENST00000262410.5_Missense_Mutation_p.A66S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.A66S|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.A66S|MAPT_ENST00000420682.2_Missense_Mutation_p.A66S|MAPT_ENST00000347967.5_Start_Codon_SNP_p.M1I|MAPT_ENST00000415613.2_Missense_Mutation_p.A66S|MAPT_ENST00000351559.5_Missense_Mutation_p.A66S|MAPT_ENST00000340799.5_Missense_Mutation_p.A66S NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 66 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton p.A66S(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) AACCTCTGATGCTAAGAGCAC 0.617000 24 48 4.26978e-12 5.86451e-12 0.654019 1 0 SCML2 10389 broad.mit.edu 37 X 18276282 18276282 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:18276282C>A ENST00000251900.4 - 10 1314 c.1155G>T c.(1153-1155)ccG>ccT p.P385P SCML2_ENST00000398048.3_Silent_p.P121P NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 385 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.P385P(1) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TCACCGGGCCCGGGCCGAAGT 0.498000 47 76 4.65455e-14 6.60913e-14 0.870114 1 0 GOLIM4 27333 broad.mit.edu 37 3 167745577 167745577 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:167745577C>A ENST00000470487.1 - 12 2251 c.1562G>T c.(1561-1563)gGt>gTt p.G521V GOLIM4_ENST00000309027.4_Missense_Mutation_p.G493V NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 521 Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus p.G521V(1) breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 ATGTCTATTACCTGGATCTCC 0.458000 73 184 1.71382e-40 3.23316e-40 0.870114 1 0 SAGE1 55511 broad.mit.edu 37 X 134993770 134993770 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:134993770G>T ENST00000535938.1 + 18 2346 c.2179G>T c.(2179-2181)Gag>Tag p.E727* SAGE1_ENST00000324447.3_Nonsense_Mutation_p.E727*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.E727*|SAGE1_ENST00000537770.1_Nonsense_Mutation_p.E351* NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 727 p.E727*(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CCAGGAGGAGGAGATGGAAAA 0.428000 82 188 3.49902e-48 6.72824e-48 0.870114 1 0 PLCL1 5334 broad.mit.edu 37 2 198949706 198949706 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:198949706C>T ENST00000428675.1 + 2 1863 c.1465C>T c.(1465-1467)Ctt>Ttt p.L489F PLCL1_ENST00000437704.2_Missense_Mutation_p.L391F NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 489 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.L391V(1)|p.L489V(1)|p.L391F(1)|p.L489F(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CCCACTCATTCTTTGCTTGGG 0.403000 11 61 0 0 0.361761 0 0 MYRIP 25924 broad.mit.edu 37 3 40192632 40192632 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:40192632C>A ENST00000302541.6 + 4 768 c.426C>A c.(424-426)taC>taA p.Y142* MYRIP_ENST00000444716.1_Nonsense_Mutation_p.Y142*|MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000425621.1_Nonsense_Mutation_p.Y142*|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_5'UTR NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 142 intracellular protein transport actin binding|zinc ion binding p.Y142Y(1)|p.Y142*(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) AGAACCTGTACAGGAAGCACC 0.552000 5 15 0.0215528 0.0222211 0.217242 1 0 NOS3 4846 broad.mit.edu 37 7 150696413 150696413 + Silent SNP G G A rs144299379 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:150696413G>A ENST00000297494.3 + 9 1449 c.1092G>A c.(1090-1092)acG>acA p.T364T NOS3_ENST00000461406.1_Silent_p.T158T|NOS3_ENST00000467517.1_Silent_p.T364T|NOS3_ENST00000484524.1_Silent_p.T364T NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 364 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.T364T(1) NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) AGATCGGCACGAGGAACCTGT 0.627000 16 143 0 0 0.479597 0 0 PIEZO2 63895 broad.mit.edu 37 18 10672837 10672837 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr18:10672837G>T ENST00000302079.6 - 50 7666 c.7667C>A c.(7666-7668)tCc>tAc p.S2556Y PIEZO2_ENST00000580640.1_Missense_Mutation_p.S2644Y|PIEZO2_ENST00000538948.1_Missense_Mutation_p.S576Y|PIEZO2_ENST00000285141.4_Missense_Mutation_p.S411Y|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Missense_Mutation_p.S2619Y Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2619 integral to membrane ion channel activity p.S2619Y(1)|p.S411Y(1) ATTGTCTCTGGACAAAATGAT 0.378000 44 92 4.86159e-25 8.18471e-25 0.870114 1 0 PXK 54899 broad.mit.edu 37 3 58368428 58368428 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:58368428G>T ENST00000463280.1 + 2 380 c.e2+1 PXK_ENST00000484288.1_Splice_Site|PXK_ENST00000536660.1_Intron|PXK_ENST00000479241.1_Splice_Site|PXK_ENST00000383716.3_Splice_Site|PXK_ENST00000356151.2_Splice_Site|PXK_ENST00000383715.4_Splice_Site|PXK_ENST00000302779.5_Splice_Site Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity p.?(2) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) AACTATACTGGTAAGCGAAGG 0.393000 21 108 3.8784e-16 5.74205e-16 0.608945 1 0 POTEF 728378 broad.mit.edu 37 2 130877729 130877729 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:130877729C>A ENST00000357462.5 - 1 453 c.360G>T c.(358-360)tgG>tgT p.W120C POTEF_ENST00000409914.2_Missense_Mutation_p.W120C|POTEF_ENST00000360967.5_Missense_Mutation_p.W120C|POTEF_ENST00000361163.4_Missense_Mutation_p.W120C A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 120 cell cortex ATP binding p.W120C(2) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CGTAGTCTCCCCAAGCGCCCA 0.587000 21 83 2.4624e-09 3.11409e-09 0.575678 1 0 ABCC12 94160 broad.mit.edu 37 16 48177929 48177929 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:48177929G>T ENST00000311303.3 - 2 512 c.167C>A c.(166-168)aCa>aAa p.T56K ABCC12_ENST00000448542.1_Missense_Mutation_p.T56K|ABCC12_ENST00000416054.1_Missense_Mutation_p.T56K NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 56 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.T56K(1) NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CCAGGAAAATGTGGCGAAGGA 0.567000 35 93 3.62531e-18 5.55277e-18 0.796494 1 0 PAPPA2 60676 broad.mit.edu 37 1 176525551 176525551 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:176525551G>C ENST00000367662.3 + 2 1257 c.93G>C c.(91-93)aaG>aaC p.K31N PAPPA2_ENST00000367661.3_Missense_Mutation_p.K31N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 31 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.K31N(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGACACGCAAGAAATCCTTGG 0.537000 59 164 0 0 0.870114 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172542 207172542 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:207172542G>T ENST00000374423.3 + 5 3676 c.3290G>T c.(3289-3291)tGg>tTg p.W1097L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1097 nucleic acid binding|zinc ion binding p.W1097L(4) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATAGACCAATGGAAGGAAGAG 0.323000 11 44 9.70103e-10 1.23468e-09 0.361761 1 0 OR8D2 283160 broad.mit.edu 37 11 124189176 124189176 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:124189176C>A ENST00000357438.2 - 1 1008 c.918G>T c.(916-918)agG>agT p.R306S NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R306S(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) ACTGCCTTCCCCTAGTCATCT 0.393000 21 139 1.2644e-06 1.46019e-06 0.592651 1 0 ASCC3 10973 broad.mit.edu 37 6 101075586 101075586 + Splice_Site SNP T T G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:101075586T>G ENST00000369162.2 - 29 4866 c.4521_splice c.e29-1 p.M1508_splice NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1508 Helicase ATP-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding p.M1508L(1) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AACAAGCCCATCTAGAGTAAA 0.348000 15 47 0 0 0.479597 0 0 UGGT1 56886 broad.mit.edu 37 2 128870688 128870688 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:128870688C>T ENST00000375990.3 + 6 883 c.480C>T c.(478-480)caC>caT p.H160H UGGT1_ENST00000259253.6_Silent_p.H184H Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 184 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding p.H184H(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AAGGAGATCACAGATATCCCT 0.328000 39 350 0 0 0.812448 0 0 WDR44 54521 broad.mit.edu 37 X 117532434 117532434 + Splice_Site SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:117532434G>C ENST00000254029.3 + 8 1669 c.e8+1 WDR44_ENST00000371822.5_Splice_Site|WDR44_ENST00000371825.3_Splice_Site NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm p.?(2) breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 AACAGAAAACGTGAGTTACAG 0.353000 35 62 0 0 0.779181 0 0 ADAR 103 broad.mit.edu 37 1 154558793 154558793 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:154558793C>A ENST00000368474.4 - 12 3265 c.3066G>T c.(3064-3066)tgG>tgT p.W1022C ADAR_ENST00000368471.3_Missense_Mutation_p.W727C|ADAR_ENST00000292205.5_Missense_Mutation_p.W1065C NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 1022 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding p.W1022C(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GAATGCCATCCCACGTAGGCA 0.572000 24 55 3.65163e-15 5.30783e-15 0.706142 1 0 CCDC80 151887 broad.mit.edu 37 3 112326064 112326064 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:112326064C>A ENST00000206423.3 - 7 3418 c.2465G>T c.(2464-2466)gGa>gTa p.G822V CCDC80_ENST00000439685.2_Missense_Mutation_p.G822V NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 822 p.G822V(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 AACTTCCTCTCCAACGCCTAA 0.363000 18 89 1.99824e-07 2.39069e-07 0.520397 1 0 CSMD1 64478 broad.mit.edu 37 8 3038656 3038656 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:3038656C>G ENST00000602557.1 - 38 6259 c.5704G>C c.(5704-5706)Gct>Cct p.A1902P CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.A1902P|CSMD1_ENST00000520002.1_Missense_Mutation_p.A1902P|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1901P|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1902P|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1901P|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1901P Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1902 CUB 11. integral to membrane p.A1901P(1)|p.A1630P(1) 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) TGGAAACCAGCAGCTGCCACA 0.408000 7 17 0 0 0.248553 0 0 PRPF38B 55119 broad.mit.edu 37 1 109238948 109238948 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:109238948G>A ENST00000370021.1 + 5 851 c.214G>A c.(214-216)Gat>Aat p.D72N PRPF38B_ENST00000370025.4_Missense_Mutation_p.D183N|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.D183N Q5VTL8 PR38B_HUMAN pre-mRNA processing factor 38B 183 mRNA processing|RNA splicing spliceosomal complex p.D183N(1) NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) ATCCTTCCTTGATGATGAAGA 0.308000 17 155 0 0 0.557998 0 0 IGLC7 28834 broad.mit.edu 37 22 23265035 23265035 + RNA SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr22:23265035C>A ENST00000390331.1 + 0 270 CCGGGTCACGCATGAAGGGAG 0.622000 9 21 1.3612e-06 1.56294e-06 0.479597 1 0 ENPP2 5168 broad.mit.edu 37 8 120608213 120608213 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:120608213C>A ENST00000259486.6 - 12 1051 c.1002G>T c.(1000-1002)ccG>ccT p.P334P ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000427067.2_Intron NM_006209.4 NP_006200.3 Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 324 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding p.P334P(1) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTCTCTTAGCCGGAGTAAAAG 0.448000 109 122 6.21429e-34 1.13219e-33 0.870114 1 0 NDN 4692 broad.mit.edu 37 15 23932116 23932116 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:23932116C>A ENST00000331837.4 - 1 334 c.249G>T c.(247-249)ccG>ccT p.P83P NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 83 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding p.P83P(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGGCCGCGCTCGGGGCCTGGT 0.756000 Prader-Willi syndrome 10 6 0.000978159 0.00103114 0.387290 1 0 CTNNA2 1496 broad.mit.edu 37 2 80816440 80816440 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:80816440G>T ENST00000466387.1 + 19 2743 c.2019G>T c.(2017-2019)gcG>gcT p.A673A CTNNA2_ENST00000361291.4_Silent_p.A707A|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000402739.4_Silent_p.A673A|CTNNA2_ENST00000540488.1_Silent_p.A673A|CTNNA2_ENST00000496558.1_Silent_p.A673A|CTNNA2_ENST00000541047.1_Silent_p.A673A|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Silent_p.A352A|AC008067.2_ENST00000595478.1_RNA P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 673 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.A673A(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CCATCATGGCGCAACTACCGC 0.517000 17 42 4.7546e-09 5.95632e-09 0.500413 1 0 PTPRD 5789 broad.mit.edu 37 9 8486068 8486068 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:8486068C>T ENST00000381196.4 - 25 3292 c.2749G>A c.(2749-2751)Gta>Ata p.V917I PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.V917I|PTPRD_ENST00000360074.4_Missense_Mutation_p.V904I|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.V895I|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.V917I NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 917 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.V917I(1) 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) CCAGTTGGTACTTCTTCTGGA 0.498000 TSP Lung(15;0.13) 31 72 0 0 0.729181 0 0 HOXA5 3202 broad.mit.edu 37 7 27183101 27183101 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:27183101G>T ENST00000222726.3 - 1 186 c.126C>A c.(124-126)tcC>tcA p.S42S HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 42 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S42*(1) central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 CGTACCTGCCGGAGTGCATGC 0.607000 12 49 4.3838e-07 5.1521e-07 0.435327 1 0 MUC16 94025 broad.mit.edu 37 19 9033633 9033633 + Missense_Mutation SNP T T G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:9033633T>G ENST00000397910.4 - 9 36507 c.36304A>C c.(36304-36306)Aca>Cca p.T12102P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12104 SEA 1. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T12102P(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTCTCTCTGTGGCGTTGAAC 0.592000 23 63 0 0 0.654019 0 0 MAP1B 4131 broad.mit.edu 37 5 71490888 71490888 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:71490888C>A ENST00000296755.7 + 5 2004 c.1706C>A c.(1705-1707)aCa>aAa p.T569K NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 569 microtubule|microtubule associated complex structural molecule activity p.T569K(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CCTGAGGTCACAAAAGTGAAT 0.448000 7 33 0.000157383 0.000169033 0.278610 1 0 IGHM 3507 broad.mit.edu 37 14 106322151 106322151 + RNA SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:106322151G>C ENST00000390559.2 - 0 172 TCTCAGGACTGATGGGAAGCC 0.582000 8 45 0 0 0.335167 0 0 SCN3A 6328 broad.mit.edu 37 2 165952085 165952085 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:165952085G>T ENST00000360093.3 - 25 4858 c.4367C>A c.(4366-4368)tCa>tAa p.S1456* SCN3A_ENST00000283254.7_Nonsense_Mutation_p.S1456*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.S1407* NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1456 voltage-gated sodium channel complex voltage-gated sodium channel activity p.S1407*(1)|p.S1456*(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AGTGAAGAATGACCCAAAGAT 0.289000 15 92 8.60227e-14 1.21498e-13 0.500413 1 0 PAX1 5075 broad.mit.edu 37 20 21686967 21686967 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:21686967C>A ENST00000444366.2 + 1 107 c.106C>A c.(106-108)Cct>Act p.P36T PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron P15863 PAX1_HUMAN paired box 1 344 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CCACAGGTCACCTTTGGAAGT 0.682000 3 19 6.4e-05 6.94066e-05 0.115264 1 0 PSG9 5678 broad.mit.edu 37 19 43773541 43773541 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:43773541A>T ENST00000244293.7 - 1 109 c.43T>A c.(43-45)Tgg>Agg p.W15R PSG9_ENST00000291752.5_Missense_Mutation_p.W15R|PSG9_ENST00000443718.3_Missense_Mutation_p.W15R|PSG9_ENST00000593948.1_Missense_Mutation_p.W15R|PSG9_ENST00000270077.3_Missense_Mutation_p.W15R|PSG9_ENST00000418820.2_Missense_Mutation_p.W15R|PSG9_ENST00000596730.1_Missense_Mutation_p.W15R Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 15 female pregnancy extracellular region p.W15R(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AGCCCCTTCCAGGTGATGCGC 0.617000 50 137 0 0 0.870114 0 0 LRRC7 57554 broad.mit.edu 37 1 70225969 70225969 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:70225969G>C ENST00000310961.5 + 4 515 c.97G>C c.(97-99)Gat>Cat p.D33H LRRC7_ENST00000035383.5_Missense_Mutation_p.D28H|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.D66H Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 28 centrosome|focal adhesion|nucleolus protein binding p.D66H(1)|p.D28H(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CTCAGTTTTAGATTACTCCCA 0.458000 10 80 0 0 0.335167 0 0 SLC10A7 84068 broad.mit.edu 37 4 147438205 147438205 + Silent SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:147438205T>A ENST00000432059.2 - 2 414 c.168A>T c.(166-168)ctA>ctT p.L56L SLC10A7_ENST00000394059.4_Silent_p.L56L|SLC10A7_ENST00000264986.3_Silent_p.L56L|SLC10A7_ENST00000502607.1_Silent_p.L56L|SLC10A7_ENST00000335472.7_Silent_p.L56L|SLC10A7_ENST00000394062.3_Silent_p.L56L|SLC10A7_ENST00000511374.1_Silent_p.L56L|SLC10A7_ENST00000507030.1_Silent_p.L56L|SLC10A7_ENST00000511315.1_5'UTR Q0GE19 NTCP7_HUMAN solute carrier family 10, member 7 56 integral to membrane bile acid:sodium symporter activity p.L56L(2) endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1) 16 all_hematologic(180;0.151) TTTTCAATGATAGTCCACTGT 0.333000 213 294 0 0 0.870114 0 0 LAMA1 284217 broad.mit.edu 37 18 7007241 7007241 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr18:7007241G>T ENST00000389658.3 - 29 4250 c.4157C>A c.(4156-4158)cCa>cAa p.P1386Q NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1386 Laminin EGF-like 14; second part. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.P1386Q(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTCCCTGCTGGGAGCTTCCC 0.557000 12 35 4.36969e-10 5.62421e-10 0.435327 1 0 SLIT3 6586 broad.mit.edu 37 5 168180939 168180939 + Missense_Mutation SNP T T G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:168180939T>G ENST00000519560.1 - 17 2178 c.1759A>C c.(1759-1761)Atg>Ctg p.M587L SLIT3_ENST00000404867.3_Missense_Mutation_p.M587L|SLIT3_ENST00000332966.8_Missense_Mutation_p.M587L NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 587 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.M587L(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTGTCAGCATCAGCTCCTGC 0.577000 9 31 0 0 0.335167 0 0 AQP10 89872 broad.mit.edu 37 1 154293724 154293724 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:154293724G>A ENST00000484864.1 + 1 129 c.93G>A c.(91-93)gtG>gtA p.V31V AQP10_ENST00000324978.3_Silent_p.V31V|AQP10_ENST00000355197.4_3'UTR Q96PS8 AQP10_HUMAN aquaporin 10 31 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity p.V31V(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TTCTGGGTGTGTTTGTACTCA 0.552000 21 66 0 0 0.608945 0 0 DTNA 1837 broad.mit.edu 37 18 32431873 32431873 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr18:32431873G>A ENST00000283365.9 + 14 1612 c.1261G>A c.(1261-1263)Gag>Aag p.E421K DTNA_ENST00000444659.1_Missense_Mutation_p.E478K|DTNA_ENST00000269192.7_Missense_Mutation_p.E187K|DTNA_ENST00000598142.1_Missense_Mutation_p.E421K|DTNA_ENST00000597674.1_Missense_Mutation_p.E100K|DTNA_ENST00000399121.5_Missense_Mutation_p.E418K|DTNA_ENST00000598334.1_Missense_Mutation_p.E418K|DTNA_ENST00000595022.1_Missense_Mutation_p.E418K|DTNA_ENST00000599844.1_Missense_Mutation_p.E100K|DTNA_ENST00000556414.3_Missense_Mutation_p.E130K|DTNA_ENST00000348997.5_Missense_Mutation_p.E475K|DTNA_ENST00000591182.1_Missense_Mutation_p.E126K|DTNA_ENST00000399113.3_Missense_Mutation_p.E478K|DTNA_ENST00000269190.7_Missense_Mutation_p.E479K|DTNA_ENST00000597599.1_Missense_Mutation_p.E418K|DTNA_ENST00000399097.3_Missense_Mutation_p.E126K|DTNA_ENST00000598774.1_Missense_Mutation_p.E421K|DTNA_ENST00000269191.6_Missense_Mutation_p.E478K|DTNA_ENST00000601125.1_Missense_Mutation_p.E100K|DTNA_ENST00000596745.1_Missense_Mutation_p.E228K NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 478 Syntrophin-binding region. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding p.E126K(1)|p.E478K(1)|p.E479K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 GCTGATTGCTGAGCTAGAAAA 0.423000 35 49 0 0 0.769981 0 0 HSP90B1 7184 broad.mit.edu 37 12 104324296 104324296 + Translation_Start_Site SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:104324296G>A ENST00000299767.5 + 1 185 c.3G>A c.(1-3)atG>atA p.M1I MIR3652_ENST00000579335.1_RNA NM_003299.1 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 1 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding p.M1I(1) central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) CGCACGCCATGAGGGCCCTGT 0.687000 3 20 0 0 0.115264 0 0 LRFN5 145581 broad.mit.edu 37 14 42360763 42360763 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:42360763G>T ENST00000298119.4 + 4 2885 c.1696G>T c.(1696-1698)Gtt>Ttt p.V566F LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 566 integral to membrane p.V566F(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GGTCACCAAGGTTAGCAATGT 0.443000 HNSCC(30;0.082) 26 103 9.86323e-18 1.50207e-17 0.667858 1 0 CCDC148 130940 broad.mit.edu 37 2 159196804 159196804 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:159196804G>T ENST00000283233.5 - 5 749 c.436C>A c.(436-438)Cag>Aag p.Q146K CCDC148_ENST00000409187.1_Missense_Mutation_p.Q155K|CCDC148_ENST00000409889.1_Missense_Mutation_p.Q146K|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q60K NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 146 p.Q146K(1) endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TGTGAATGCTGCAAAGTGTGA 0.348000 23 112 2.48779e-11 3.31983e-11 0.693898 1 0 CYP4F12 66002 broad.mit.edu 37 19 15796003 15796003 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:15796003G>A ENST00000550308.1 + 9 1491 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K CYP4F12_ENST00000324632.9_Missense_Mutation_p.E371K NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 p.E371K(1) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TAAAGAGATTGAATGGTGAGT 0.547000 45 60 0 0 0.870114 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71376433 71376433 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:71376433A>T ENST00000244230.2 + 10 2098 c.1746A>T c.(1744-1746)aaA>aaT p.K582N NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 582 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding p.K582N(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 GGAAAAAGAAATATCAAAAGC 0.358000 12 20 0 0 0.387290 0 0 SLFN12 55106 broad.mit.edu 37 17 33738843 33738843 + Silent SNP G G A rs112295255 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:33738843G>A ENST00000394562.1 - 6 1774 c.1251C>T c.(1249-1251)gtC>gtT p.V417V SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Silent_p.V417V|SLFN12_ENST00000304905.5_Silent_p.V417V Q8IYM2 SLN12_HUMAN schlafen family member 12 417 ATP binding p.V417V(1) breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGCCCTTTCTGACAGAGTCCA 0.428000 46 187 0 0 0.870114 0 0 MUC5B 727897 broad.mit.edu 37 11 1272848 1272848 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:1272848T>A ENST00000447027.1 + 31 14805 c.14747T>A c.(14746-14748)cTg>cAg p.L4916Q MUC5B_ENST00000529681.1_Missense_Mutation_p.L4913Q Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4913 Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.L4913Q(1)|p.L4868Q(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCAGCAGCCTGCCAACCTTC 0.647000 9 20 0 0 0.361761 0 0 MAP2K7 5609 broad.mit.edu 37 19 7976183 7976183 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:7976183C>T ENST00000545011.1 + 8 1095 c.1030C>T c.(1030-1032)Cgg>Tgg p.R344W MAP2K7_ENST00000397981.3_Missense_Mutation_p.R302W|MAP2K7_ENST00000397983.3_Missense_Mutation_p.R318W|MAP2K7_ENST00000397979.3_Missense_Mutation_p.R302W O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 302 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R302W(1) breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) CTATGACATCCGGGCCGACGT 0.667000 13 93 0 0 0.557998 0 0 CR1 1378 broad.mit.edu 37 1 207760745 207760745 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:207760745C>A ENST00000367049.4 + 34 5545 c.5545C>A c.(5545-5547)Cca>Aca p.P1849T CR1_ENST00000367051.1_Missense_Mutation_p.P1399T|CR1_ENST00000400960.2_Missense_Mutation_p.P1399T|CR1_ENST00000367053.1_Missense_Mutation_p.P1399T|CR1_ENST00000367052.1_Missense_Mutation_p.P1399T|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1399 Sushi 29. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.P1849K(1)|p.P1404K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTGTAAAACCCCAGAGCAGTT 0.438000 27 101 3.69857e-22 5.98673e-22 0.729181 1 0 SLC3A1 6519 broad.mit.edu 37 2 44547563 44547563 + Missense_Mutation SNP C C T rs121912696 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:44547563C>T ENST00000260649.6 + 10 1919 c.1843C>T c.(1843-1845)Ccc>Tcc p.P615S SLC3A1_ENST00000409740.3_Missense_Mutation_p.P246S|SLC3A1_ENST00000409380.1_Missense_Mutation_p.P337S|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409411.1_3'UTR NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 615 P -> T (in CSNU1). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity p.P615S(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) TTCGGGCCTTCCCGCTAAAAT 0.408000 43 96 0 0 0.847076 0 0 COPG1 22820 broad.mit.edu 37 3 128984617 128984617 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:128984617C>A ENST00000314797.6 + 14 1554 c.1450C>A c.(1450-1452)Cat>Aat p.H484N NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 484 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity p.H484N(1) GGTCTTGGAGCATGAGGAGGT 0.552000 10 61 6.40141e-05 6.94066e-05 0.387290 1 0 MID2 11043 broad.mit.edu 37 X 107084577 107084577 + Nonsense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:107084577C>T ENST00000262843.6 + 2 1230 c.682C>T c.(682-684)Cag>Tag p.Q228* MID2_ENST00000443968.2_Nonsense_Mutation_p.Q228* NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 228 centrosome|microtubule ligase activity|zinc ion binding p.Q208*(1)|p.Q228*(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 CCGAGACCATCAGGTCGCATC 0.463000 20 108 0 0 0.575678 0 0 URB2 9816 broad.mit.edu 37 1 229773793 229773793 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:229773793A>T ENST00000258243.2 + 4 3569 c.3433A>T c.(3433-3435)Agg>Tgg p.R1145W NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1145 nucleolus p.R1145W(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 AGGAAGCGACAGGACGCTGCT 0.582000 21 84 0 0 0.654019 0 0 GTDC1 79712 broad.mit.edu 37 2 144714835 144714835 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:144714835C>A ENST00000409214.1 - 9 1335 c.1057G>T c.(1057-1059)Gac>Tac p.D353Y AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000392869.1_Missense_Mutation_p.D353Y|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000409298.1_Missense_Mutation_p.D235Y|GTDC1_ENST00000542155.1_Missense_Mutation_p.D353Y|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000344850.4_Missense_Mutation_p.D353Y|GTDC1_ENST00000463875.2_Missense_Mutation_p.D224Y NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 353 biosynthetic process transferase activity, transferring glycosyl groups p.D353Y(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) TGGAAATAGTCATCTTTGCTG 0.378000 14 72 1.3612e-06 1.56294e-06 0.479597 1 0 ITGB4 3691 broad.mit.edu 37 17 73736056 73736056 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:73736056C>T ENST00000200181.3 + 20 2537 c.2350C>T c.(2350-2352)Ctc>Ttc p.L784F ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.L784F|ITGB4_ENST00000450894.3_Missense_Mutation_p.L784F|ITGB4_ENST00000339591.3_Missense_Mutation_p.L784F|ITGB4_ENST00000449880.2_Missense_Mutation_p.L784F NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 784 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity p.L784F(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGCGGGAACCTCAAGGGCCG 0.607000 12 43 0 0 0.435327 0 0 TSC2 7249 broad.mit.edu 37 16 2130310 2130310 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:2130310C>T ENST00000219476.3 + 30 4172 c.3542C>T c.(3541-3543)aCg>aTg p.T1181M TSC2_ENST00000353929.4_Missense_Mutation_p.T1138M|TSC2_ENST00000401874.2_Missense_Mutation_p.T1137M|TSC2_ENST00000568454.1_Missense_Mutation_p.T1148M|TSC2_ENST00000439673.2_Missense_Mutation_p.T1101M|TSC2_ENST00000350773.4_Missense_Mutation_p.T1181M|TSC2_ENST00000382538.6_Missense_Mutation_p.T1089M NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1181 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 p.T1181M(2) 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) CAGGAGAAGACGAACCTGGCG 0.667000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 20 119 0 0 0.557998 0 0 KCND2 3751 broad.mit.edu 37 7 119915472 119915472 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:119915472G>C ENST00000331113.4 + 1 1751 c.786G>C c.(784-786)atG>atC p.M262I NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 262 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding p.M262I(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GTAGTGTCATGAGTATCATCG 0.527000 10 78 0 0 0.361761 0 0 UNC93A 54346 broad.mit.edu 37 6 167708042 167708042 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:167708042C>A ENST00000230256.3 + 2 300 c.125C>A c.(124-126)gCg>gAg p.A42E UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.A42E NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 42 integral to membrane|plasma membrane p.A42E(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GGTGTCACAGCGCTCAGCACC 0.617000 32 120 5.77227e-19 8.89242e-19 0.729181 1 0 IL17A 3605 broad.mit.edu 37 6 52054023 52054023 + Missense_Mutation SNP G G T rs147810050 byFrequency TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:52054023G>T ENST00000340057.1 + 3 446 c.401G>T c.(400-402)cGg>cTg p.R134L NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 134 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity p.R134L(1) endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) AACTCCTTCCGGCTGGAGAAG 0.597000 35 49 8.04919e-23 1.31894e-22 0.870114 1 0 ATHL1 80162 broad.mit.edu 37 11 294668 294668 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:294668C>G ENST00000409548.2 + 14 2248 c.2133C>G c.(2131-2133)gaC>gaG p.D711E ATHL1_ENST00000409655.1_Missense_Mutation_p.D463E|ATHL1_ENST00000409479.1_Missense_Mutation_p.D738E NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 711 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds p.D534E(1)|p.D711E(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) ATGTTAGGGACCCGCTCCAGA 0.607000 38 250 0 0 0.840704 0 0 PTPRC 5788 broad.mit.edu 37 1 198691572 198691572 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:198691572G>T ENST00000367376.2 + 15 1852 c.1681G>T c.(1681-1683)Gga>Tga p.G561* PTPRC_ENST00000352140.3_Nonsense_Mutation_p.G513*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.G400*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.G402*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.G563* NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 561 Fibronectin type-III 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.G561*(1) breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AGACTATCCTGGAGAACCCTT 0.224000 25 105 5.04308e-16 7.43877e-16 0.819951 1 0 DOPEY1 23033 broad.mit.edu 37 6 83845498 83845498 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:83845498G>T ENST00000349129.2 + 20 3291 c.3031G>T c.(3031-3033)Gta>Tta p.V1011L DOPEY1_ENST00000369739.3_Missense_Mutation_p.V1002L|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V992L NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1011 protein transport p.V1011L(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GAGGGTTTCAGTACAGCGTGT 0.443000 104 154 9.50263e-46 1.81849e-45 0.870114 1 0 HIST3H2BB 128312 broad.mit.edu 37 1 228646048 228646048 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:228646048G>T ENST00000369160.2 + 1 241 c.218G>T c.(217-219)cGc>cTc p.R73L NM_175055.2 NP_778225.1 Q8N257 H2B3B_HUMAN histone cluster 3, H2bb 73 nucleosome assembly nucleosome|nucleus DNA binding p.R73L(1) skin(1) 1 Prostate(94;0.183) ATCTTCGAGCGCATCGCCAGC 0.622000 48 113 8.44121e-28 1.46437e-27 0.870114 1 0 DSP 1832 broad.mit.edu 37 6 7585772 7585772 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:7585772C>A ENST00000379802.3 + 24 8618 c.8277C>A c.(8275-8277)cgC>cgA p.R2759R DSP_ENST00000418664.2_Silent_p.R2160R NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2759 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.R2759R(1) biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TAGATGGCCGCGCCGCACAGA 0.522000 14 97 1.28384e-07 1.54293e-07 0.608945 1 0 SORL1 6653 broad.mit.edu 37 11 121391515 121391515 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:121391515A>T ENST00000260197.7 + 9 1490 c.1361A>T c.(1360-1362)cAg>cTg p.Q454L SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 454 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity p.Q454L(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GAGTTTCTTCAGGCTCCAGCC 0.418000 26 81 0 0 0.717897 0 0 RAG2 5897 broad.mit.edu 37 11 36615026 36615026 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:36615026G>T ENST00000311485.3 - 2 854 c.693C>A c.(691-693)gcC>gcA p.A231A NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 231 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding p.A231A(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TGTACAGGTTGGCAGGCCGGA 0.463000 Familial Hemophagocytic Lymphohistiocytosis 22 119 6.33239e-15 9.13787e-15 0.592651 1 0 DOCK9 23348 broad.mit.edu 37 13 99452598 99452598 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:99452598C>G ENST00000376460.1 - 53 5982 c.5902G>C c.(5902-5904)Gcc>Ccc p.A1968P DOCK9_ENST00000339416.2_Missense_Mutation_p.A1955P NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1969 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.A1969P(1)|p.A1968P(1) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCCACCTCGGCCGAGGAGCAC 0.612000 7 12 0 0 0.248553 0 0 RFX5 5993 broad.mit.edu 37 1 151316173 151316173 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:151316173C>T ENST00000290524.4 - 9 919 c.741G>A c.(739-741)aaG>aaA p.K247K RFX5_ENST00000452671.2_Silent_p.K247K|RFX5_ENST00000452513.2_Silent_p.K207K|RFX5_ENST00000368870.2_Silent_p.K247K NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 247 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.K247K(1) endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 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) GCCCCATGGCCTTAAGCACAT 0.557000 25 44 0 0 0.693898 0 0 LTBP1 4052 broad.mit.edu 37 2 33500061 33500061 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:33500061C>A ENST00000404816.2 + 17 3126 c.2773C>A c.(2773-2775)Ctc>Atc p.L925I LTBP1_ENST00000402934.1_Missense_Mutation_p.L546I|LTBP1_ENST00000407925.1_Missense_Mutation_p.L599I|LTBP1_ENST00000390003.4_Missense_Mutation_p.L600I|LTBP1_ENST00000354476.3_Missense_Mutation_p.L926I|LTBP1_ENST00000404525.1_Missense_Mutation_p.L546I|LTBP1_ENST00000418533.2_Missense_Mutation_p.L599I Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 925 EGF-like 5; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.L926I(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGTCCAACACCTCTGCTCCCA 0.418000 48 136 2.68985e-26 4.61613e-26 0.870114 1 0 C15orf59 388135 broad.mit.edu 37 15 74032524 74032524 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:74032524C>A ENST00000569673.1 - 3 1820 c.616G>T c.(616-618)Ggt>Tgt p.G206C C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.G206C Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 206 p.G206C(1) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 tcctgctcaccgtccccctcc 0.652000 21 33 1.96292e-10 2.55532e-10 0.592651 1 0 SLIT3 6586 broad.mit.edu 37 5 168135053 168135053 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:168135053C>T ENST00000519560.1 - 26 3191 c.2772G>A c.(2770-2772)ccG>ccA p.P924P SLIT3_ENST00000404867.3_Silent_p.P924P|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Silent_p.P931P|CTC-558O2.1_ENST00000522615.1_RNA NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 924 EGF-like 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.P924P(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TATTCTTGCACGGGCTGGAGA 0.602000 5 59 0 0 0.307466 0 0 SEPT3 55964 broad.mit.edu 37 22 42377700 42377700 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr22:42377700C>A ENST00000396425.3 + 2 193 c.62C>A c.(61-63)cCc>cAc p.P21H SEPT3_ENST00000396426.3_Missense_Mutation_p.P21H|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000328414.8_Missense_Mutation_p.P21H|SEPT3_ENST00000406029.1_Intron NM_019106.5 NP_061979.3 Q9UH03 SEPT3_HUMAN septin 3 21 cell cycle|cytokinesis cell junction|septin complex GTP binding p.P21H(2) breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GTGCCTGAGCCCAGGCCTAAG 0.627000 20 28 4.59853e-10 5.90922e-10 0.693898 1 0 TPTE 7179 broad.mit.edu 37 21 10934954 10934954 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr21:10934954C>A ENST00000298232.7 - 14 1152 c.785G>T c.(784-786)cGa>cTa p.R262L TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R280L|TPTE_ENST00000342420.5_Missense_Mutation_p.R242L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 280 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R262Q(1)|p.R262L(1)|p.R280L(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATTGTAGACTCGATAGTGGTT 0.333000 43 167 4.64027e-19 7.17622e-19 0.870114 1 0 GCC2 9648 broad.mit.edu 37 2 109086647 109086647 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:109086647G>A ENST00000309863.6 + 6 1576 c.862G>A c.(862-864)Gaa>Aaa p.E288K GCC2_ENST00000485546.1_3'UTR NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 288 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding p.E288K(1) breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 TGAGGCAAGTGAAAAGAACAT 0.358000 50 165 0 0 0.870114 0 0 NDST4 64579 broad.mit.edu 37 4 115997446 115997446 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:115997446G>T ENST00000264363.2 - 2 1425 c.747C>A c.(745-747)agC>agA p.S249R NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 249 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.S249R(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AGAGTGTTTTGCTAGACAAGG 0.418000 109 121 3.0784e-53 5.97704e-53 0.870114 1 0 DBX1 120237 broad.mit.edu 37 11 20178655 20178655 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:20178655G>T ENST00000524983.2 - 3 888 c.600C>A c.(598-600)ttC>ttA p.F200L DBX1_ENST00000227256.3_Missense_Mutation_p.F200L A6NMT0 DBX1_HUMAN developing brain homeobox 1 200 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F200_Q201>LK(1) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 TCTGCTTCTGGAACATCTTCT 0.652000 5 32 4.096e-09 5.14741e-09 0.217242 1 0 TEX15 56154 broad.mit.edu 37 8 30701942 30701942 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:30701942G>T ENST00000256246.2 - 1 4666 c.4592C>A c.(4591-4593)aCa>aAa p.T1531K NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1531 p.T1531K(1) NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATTAGAAACTGTGTTCTTCAA 0.353000 75 231 1.31589e-24 2.20605e-24 0.870114 1 0 SYNE1 23345 broad.mit.edu 37 6 152722272 152722272 + Splice_Site SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:152722272C>A ENST00000367255.5 - 47 7631 c.e47+1 SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.?(3) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTATTACCTACCTTGACTTTT 0.338000 HNSCC(10;0.0054) 16 79 1.02788e-11 1.3879e-11 0.520397 1 0 FBXO18 84893 broad.mit.edu 37 10 5956140 5956140 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:5956140G>T ENST00000379999.5 + 9 1561 c.e9-1 FBXO18_ENST00000397269.3_Splice_Site|FBXO18_ENST00000362091.4_Splice_Site|FBXO18_ENST00000379994.1_Splice_Site NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding p.?(1) NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 AATGATTATAGCAAGAAAACC 0.388000 53 166 1.0442e-30 1.85998e-30 0.870114 1 0 IL12RB2 3595 broad.mit.edu 37 1 67787288 67787288 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:67787288C>G ENST00000262345.1 + 3 720 c.80C>G c.(79-81)gCg>gGg p.A27G IL12RB2_ENST00000544434.1_Missense_Mutation_p.A27G|IL12RB2_ENST00000371000.1_Missense_Mutation_p.A27G|IL12RB2_ENST00000541374.1_Missense_Mutation_p.A27G NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 27 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity p.A27G(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 ATTGCAGATGCGTGCAAGAGA 0.378000 62 133 0 0 0.870114 0 0 TNFRSF8 943 broad.mit.edu 37 1 12144555 12144555 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:12144555C>A ENST00000263932.2 + 2 320 c.98C>A c.(97-99)cCc>cAc p.P33H TNFRSF8_ENST00000417814.2_Intron NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 33 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CATGGAAACCCCAGCCACTAC 0.592000 44 47 5.7616e-29 1.01272e-28 0.870114 1 0 OR4M1 441670 broad.mit.edu 37 14 20248811 20248811 + Silent SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:20248811G>C ENST00000315957.4 + 1 411 c.330G>C c.(328-330)tcG>tcC p.S110S NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S110S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGGGGCTTCGGAGATGTTCT 0.483000 91 691 0 0 0.870114 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 4 22 0 0 0.184627 0 0 IL1F10 84639 broad.mit.edu 37 2 113832767 113832767 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:113832767G>A ENST00000393197.2 + 4 706 c.285G>A c.(283-285)gaG>gaA p.E95E IL1F10_ENST00000337569.3_Silent_p.E95E|IL1F10_ENST00000341010.2_Silent_p.E95E NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 95 extracellular space cytokine activity|interleukin-1 receptor antagonist activity p.E95E(1) endometrium(1)|lung(6)|ovary(1) 8 GTGGTGAAGAGGCCACACGCT 0.602000 52 306 0 0 0.870114 0 0 BCL9L 283149 broad.mit.edu 37 11 118769541 118769541 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:118769541G>A ENST00000334801.3 - 8 5047 c.4083C>T c.(4081-4083)aaC>aaT p.N1361N BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1361 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity p.N1361N(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TGTTCTGCAGGTTCATGAGAT 0.622000 12 64 0 0 0.457914 0 0 NXPE2 120406 broad.mit.edu 37 11 114569276 114569276 + Silent SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr11:114569276C>A ENST00000375475.5 + 3 740 c.642C>A c.(640-642)atC>atA p.I214I NXPE2_ENST00000389586.4_Silent_p.I214I neurexophilin and PC-esterase domain family, member 2 p.I214I(2) GTGATAGGATCATCTTCACTG 0.517000 4 19 0.150653 0.152759 0.150653 1 0 RFTN1 23180 broad.mit.edu 37 3 16475526 16475526 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:16475526G>A ENST00000334133.4 - 3 436 c.164C>T c.(163-165)tCa>tTa p.S55L RFTN1_ENST00000432519.1_Missense_Mutation_p.S19L NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 55 plasma membrane p.S55L(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 CCTCACTGCTGAGGACCCAGG 0.667000 5 25 0 0 0.248553 0 0 OVCH1 341350 broad.mit.edu 37 12 29592260 29592260 + Splice_Site SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:29592260C>A ENST00000318184.5 - 26 3264 c.e26+1 OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity p.?(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) gagttactcaccactgaattt 0.308000 4 27 0.00024832 0.000264919 0.150653 1 0 SDCCAG3 10807 broad.mit.edu 37 9 139299578 139299578 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:139299578C>A ENST00000298537.7 - 6 1112 c.901G>T c.(901-903)Gtt>Ttt p.V301F SDCCAG3_ENST00000371725.3_Missense_Mutation_p.V251F|SDCCAG3_ENST00000461693.1_5'UTR|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.V324F NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 324 cytoplasm p.V324F(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) ACCTGCTGAACCACCGACTCC 0.532000 32 113 6.05902e-23 9.96927e-23 0.788014 1 0 BMP7 655 broad.mit.edu 37 20 55748170 55748170 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:55748170G>C ENST00000450594.2 - 6 1738 c.1232C>G c.(1231-1233)cCt>cGt p.P411R BMP7_ENST00000395863.3_Intron|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_Intron P18075 BMP7_HUMAN bone morphogenetic protein 7 0 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CATCTACTCAGGCCCCAGCTT 0.547000 7 14 0 0 0.307466 0 0 C10orf11 83938 broad.mit.edu 37 10 78316967 78316967 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr10:78316967G>T ENST00000496424.2 + 3 965 c.88_splice c.e3-1 p.G30_splice C10orf11_ENST00000593699.1_3'UTR|C10orf11_ENST00000372499.1_Splice_Site_p.G173_splice Q9H2I8 CJ011_HUMAN chromosome 10 open reading frame 11 173 p.G173V(1) endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 10 Prostate(51;0.0095)|all_epithelial(25;0.0221) TTATTTGCAGGTGTCCTGGGG 0.448000 32 37 5.60225e-13 7.80209e-13 0.740014 1 0 ACTC1 70 broad.mit.edu 37 15 35084612 35084612 + Missense_Mutation SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr15:35084612T>A ENST00000290378.4 - 4 1268 c.613A>T c.(613-615)Act>Tct p.T205S RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 205 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding p.T205S(1) central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CACTCACCAGTGGTGACAAAG 0.537000 11 41 0 0 0.361761 0 0 DNM1 1759 broad.mit.edu 37 9 130985090 130985090 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:130985090G>T ENST00000341179.7 + 9 1239 c.1147G>T c.(1147-1149)Gaa>Taa p.E383* DNM1_ENST00000372923.3_Nonsense_Mutation_p.E383*|DNM1_ENST00000393594.3_Nonsense_Mutation_p.E383*|DNM1_ENST00000486160.1_Nonsense_Mutation_p.E383*|DNM1_ENST00000475805.1_Nonsense_Mutation_p.E383* NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 383 receptor-mediated endocytosis microtubule GTP binding|GTPase activity p.E383*(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 TGATGAGAAGGAACTCCGAAG 0.542000 10 64 0.010729 0.0111048 0.387290 1 0 SLC6A14 11254 broad.mit.edu 37 X 115590106 115590106 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:115590106C>T ENST00000371900.4 + 14 2002 c.1914C>T c.(1912-1914)agC>agT p.S638S SLC6A14_ENST00000463626.1_3'UTR NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 638 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.S638S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TTAGTGGCAGCAGAAAACCGG 0.358000 48 80 0 0 0.870114 0 0 FIBCD1 84929 broad.mit.edu 37 9 133780732 133780732 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr9:133780732C>T ENST00000372338.4 - 6 1257 c.1015G>A c.(1015-1017)Gag>Aag p.E339K FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Missense_Mutation_p.E181K|FIBCD1_ENST00000448616.1_Missense_Mutation_p.E339K NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 339 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding p.E339K(1) kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GTGCCATTCTCAAAGTCCTCC 0.612000 4 18 0 0 0.184627 0 0 KRT26 353288 broad.mit.edu 37 17 38926035 38926035 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:38926035C>G ENST00000335552.4 - 5 988 c.940G>C c.(940-942)Gaa>Caa p.E314Q NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 314 Coil 2.|Rod. intermediate filament structural molecule activity p.E314Q(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) AGTTCTATTTCCAGGGTTTGC 0.418000 28 149 0 0 0.760397 0 0 ZNF479 90827 broad.mit.edu 37 7 57194386 57194386 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:57194386G>T ENST00000331162.4 - 3 349 c.79C>A c.(79-81)Ctg>Atg p.L27M NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L27M(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CATTCCTCCAGAGAGAATTCT 0.438000 30 75 3.99451e-17 6.02574e-17 0.740014 1 0 PRPF40B 25766 broad.mit.edu 37 12 50037148 50037148 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:50037148G>T ENST00000261897.1 + 22 2797 c.2246G>T c.(2245-2247)cGg>cTg p.R749L PRPF40B_ENST00000548825.2_Missense_Mutation_p.R783L|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R762L|FMNL3_ENST00000335154.5_3'UTR Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 762 mRNA processing|RNA splicing nuclear speck p.R762L(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CTTGGAGGACGGGGCTCCCCT 0.597000 26 174 2.79863e-10 3.63731e-10 0.681144 1 0 MYOCD 93649 broad.mit.edu 37 17 12666814 12666814 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr17:12666814G>T ENST00000425538.1 + 14 3014 c.2814G>T c.(2812-2814)atG>atT p.M938I RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.M890I NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 890 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.M890I(1)|p.M938I(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGGAAACCATGGAGTGGCTGG 0.552000 28 38 4.65686e-17 7.01166e-17 0.788014 1 0 PXDNL 137902 broad.mit.edu 37 8 52258433 52258433 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:52258433G>T ENST00000356297.4 - 20 4076 c.3976C>A c.(3976-3978)Cct>Act p.P1326T PXDNL_ENST00000543296.1_Intron NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1326 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.P1326T(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TTATCAACAGGATAGCTGTAT 0.388000 6 122 2.7689e-08 3.40984e-08 0.248553 1 0 CDK8 1024 broad.mit.edu 37 13 26927935 26927935 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:26927935G>T ENST00000381527.3 + 4 877 c.374G>T c.(373-375)cGg>cTg p.R125L CDK8_ENST00000536792.1_Missense_Mutation_p.R125L NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 125 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.R125L(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) CAGTTACCTCGGGGAATGGTG 0.373000 26 49 7.07758e-08 8.57042e-08 0.681144 1 0 AKAP11 11215 broad.mit.edu 37 13 42869852 42869852 + Nonsense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:42869852G>T ENST00000025301.2 + 5 365 c.190G>T c.(190-192)Gaa>Taa p.E64* NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 64 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding p.E64*(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GGGTTTTAATGAAGAGACAGA 0.353000 56 128 8.4772e-36 1.55513e-35 0.870114 1 0 DSE 29940 broad.mit.edu 37 6 116757588 116757588 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:116757588C>T ENST00000331677.3 + 7 2401 c.1957C>T c.(1957-1959)Ctc>Ttc p.L653F DSE_ENST00000359564.2_Missense_Mutation_p.L653F|DSE_ENST00000452085.3_Missense_Mutation_p.L653F|DSE_ENST00000537543.1_Missense_Mutation_p.L672F Q9UL01 DSE_HUMAN dermatan sulfate epimerase 653 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity p.L653F(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CACCATGCACCTCCGAAGTCC 0.507000 73 89 0 0 0.870114 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110034140 110034140 + Missense_Mutation SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:110034140G>C ENST00000369870.3 + 10 1970 c.1955G>C c.(1954-1956)gGa>gCa p.G652A ATXN7L2_ENST00000459635.1_3'UTR NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 652 p.G652A(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) GGAGCAGCTGGACACCCAGCC 0.627000 7 41 0 0 0.335167 0 0 TRBV6-9 28598 broad.mit.edu 37 7 142104227 142104227 + RNA SNP G G C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:142104227G>C ENST00000390379.1 - 0 237 TAGCCATCGGGGACTTCTCCT 0.522000 83 141 0 0 0.870114 0 0 FAM135B 51059 broad.mit.edu 37 8 139160791 139160791 + Silent SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:139160791G>A ENST00000395297.1 - 14 3590 c.3420C>T c.(3418-3420)caC>caT p.H1140H NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1140 p.H1140H(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGACAACCAGGTGAATTCCAT 0.348000 HNSCC(54;0.14) 35 135 0 0 0.827153 0 0 MCM9 254394 broad.mit.edu 37 6 119252870 119252870 + Missense_Mutation SNP T T C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr6:119252870T>C ENST00000316316.6 - 2 305 c.19A>G c.(19-21)Aca>Gca p.T7A MCM9_ENST00000316068.3_Missense_Mutation_p.T7A NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 7 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity p.T7A(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) CCAACCAGTGTAACTTGATCG 0.313000 33 50 0 0 0.750413 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815565 106815565 + Silent SNP T T A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:106815565T>A ENST00000407775.2 + 8 3505 c.3255T>A c.(3253-3255)gcT>gcA p.A1085A RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.A816A|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.A953A|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.A953A|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1085 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 p.A1085A(1) 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) ACCCATTAGCTGCCAATGAGA 0.507000 6 55 0 0 0.217242 0 0 IQSEC1 9922 broad.mit.edu 37 3 12949849 12949849 + Splice_Site SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:12949849C>A ENST00000273221.4 - 12 3013 c.2797_splice c.e12+1 p.G933_splice NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 933 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity p.G933W(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAGCTCTTACCGGCTTCCGAG 0.672000 7 14 4.68919e-08 5.69554e-08 0.361761 1 0 NAPEPLD 222236 broad.mit.edu 37 7 102760290 102760290 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:102760290C>G ENST00000417955.1 - 3 829 c.675G>C c.(673-675)gaG>gaC p.E225D NAPEPLD_ENST00000427257.1_Missense_Mutation_p.E225D|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.E225D|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.E225D|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.E298D Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 225 phospholipid catabolic process membrane metal ion binding p.E225D(1) endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CAATCACATTCTCACAGCCAC 0.448000 22 103 0 0 0.624587 0 0 RASAL2 9462 broad.mit.edu 37 1 178425834 178425834 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:178425834G>T ENST00000448150.3 + 13 2975 c.e13-1 RASAL2_ENST00000367649.3_Intron|RASAL2_ENST00000462775.1_Splice_Site NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity p.?(2) biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 TATCCAATTAGGGTGAAAATT 0.468000 122 383 4.37143e-48 8.38557e-48 0.870114 1 0 IER2 9592 broad.mit.edu 37 19 13264219 13264219 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:13264219G>T ENST00000588173.1 + 1 1431 c.219G>T c.(217-219)ccG>ccT p.P73P CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000587885.1_Silent_p.P73P|CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Silent_p.P73P Q9BTL4 IER2_HUMAN immediate early response 2 73 p.P73P(1) kidney(1)|lung(1)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) GCCTGCACCCGCCCCGAGAAG 0.721000 OREG0025291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 6 2.17888e-05 2.41492e-05 0.335167 1 0 NPEPL1 79716 broad.mit.edu 37 20 57269554 57269554 + Nonsense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:57269554C>A ENST00000356091.6 + 3 701 c.413C>A c.(412-414)tCa>tAa p.S138* NPEPL1_ENST00000525817.1_Nonsense_Mutation_p.S90*|NPEPL1_ENST00000525967.1_Nonsense_Mutation_p.S110*|STX16-NPEPL1_ENST00000530122.1_3'UTR NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 138 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity p.S138*(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) ACCCACCGCTCAGGTGCCTCT 0.637000 21 57 3.08376e-08 3.7743e-08 0.654019 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68222716 68222716 + Silent SNP T T C TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:68222716T>C ENST00000347230.4 - 36 6873 c.6735A>G c.(6733-6735)ttA>ttG p.L2245L ZFYVE26_ENST00000557306.1_Silent_p.L91L NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2245 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.L2245L(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCTTCTTCTGTAAATGTTGGC 0.473000 186 321 0 0 0.870114 0 0 SPATC1 375686 broad.mit.edu 37 8 145095304 145095304 + Missense_Mutation SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr8:145095304C>T ENST00000377470.3 + 2 808 c.706C>T c.(706-708)Cgc>Tgc p.R236C SPATC1_ENST00000447830.2_Missense_Mutation_p.R236C NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 236 p.R145C(1)|p.R236C(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGAGCCACTCCGCGGAGGCCC 0.682000 9 28 0 0 0.539581 0 0 RYR2 6262 broad.mit.edu 37 1 237780736 237780736 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:237780736G>T ENST00000366574.2 + 38 6183 c.5866G>T c.(5866-5868)Gca>Tca p.A1956S RYR2_ENST00000360064.6_Missense_Mutation_p.A1954S|RYR2_ENST00000542537.1_Missense_Mutation_p.A1940S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1956 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A1954S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATGTCAGCTGCACTCACAGC 0.398000 23 66 2.41591e-17 3.65825e-17 0.681144 1 0 CCDC30 728621 broad.mit.edu 37 1 43002200 43002201 + Frame_Shift_Del DEL AG AG - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:43002200_43002201delAG ENST00000428554.2 + 9 1188_1189 c.45_46delAG c.(43-48)aaagfs p.KE15fs CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000340612.4_Frame_Shift_Del_p.KE15fs Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 15 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 AGTGGTCAAAAGAGAGAGAGAG 0.356 11 190 --- --- --- --- KCNH1 3756 broad.mit.edu 37 1 211192527 211192527 + Frame_Shift_Del DEL G G - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:211192527delG ENST00000367007.4 - 6 799 c.630delC c.(628-630)atfs p.I210fs KCNH1_ENST00000271751.4_Frame_Shift_Del_p.I210fs NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 210 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) AATAATGTAAGATGATGTGAG 0.443 38 139 --- --- --- --- OR2T11 127077 broad.mit.edu 37 1 248789984 248789984 + Frame_Shift_Del DEL C C - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr1:248789984delC ENST00000330803.2 - 1 507 c.446delG c.(445-447)gcfs p.G149fs NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCGAGGGAGCCCCCAAACCA 0.527 24 85 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187532439 187532439 + Frame_Shift_Del DEL G G - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:187532439delG ENST00000261023.3 + 24 2643 c.2369delG c.(2368-2370)tgfs p.W790fs ITGAV_ENST00000374907.3_Frame_Shift_Del_p.W754fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.W744fs NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 790 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ATTCCAAACTGGGAGCACAAG 0.408 18 93 --- --- --- --- SP110 3431 broad.mit.edu 37 2 231076245 231076245 + Frame_Shift_Del DEL G G - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr2:231076245delG ENST00000258381.6 - 6 768 c.691delC c.(691-693)aafs p.Q231fs SP110_ENST00000258382.5_Frame_Shift_Del_p.Q231fs|SP110_ENST00000392048.3_Frame_Shift_Del_p.Q231fs|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000358662.4_Frame_Shift_Del_p.Q231fs|SP110_ENST00000540870.1_Frame_Shift_Del_p.Q237fs NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 231 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TCTCTTATTTGGGGGATCAGG 0.458 9 76 --- --- --- --- MYL3 4634 broad.mit.edu 37 3 46904801 46904801 + Frame_Shift_Del DEL G G - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:46904801delG ENST00000395869.1 - 1 131 c.80delC c.(79-81)ctfs p.P27fs MYL3_ENST00000292327.4_Frame_Shift_Del_p.P27fs P08590 MYL3_HUMAN myosin, light chain 3, alkali; ventricular, skeletal, slow 27 cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) CTCAGGCTCAGGGGGAGGTGC 0.587 51 128 --- --- --- --- GLT8D1 55830 broad.mit.edu 37 3 52731871 52731873 + In_Frame_Del DEL CTC CTC - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr3:52731871_52731873delCTC ENST00000407584.3 - 5 1043_1045 c.193_195delGAG c.(193-195)del p.E65del GLT8D1_ENST00000491606.1_In_Frame_Del_p.E65del|GLT8D1_ENST00000266014.5_In_Frame_Del_p.E65del|GLT8D1_ENST00000394783.3_In_Frame_Del_p.E65del|GLT8D1_ENST00000478968.2_In_Frame_Del_p.E65del NM_001010983.1|NM_001278280.1 NP_001010983.1|NP_001265209.1 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 65 integral to membrane|mitochondrion transferase activity, transferring glycosyl groups breast(1)|endometrium(1)|kidney(3)|large_intestine(3) 8 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCACAGGAATCTCCTCTTGTCTC 0.483 19 124 --- --- --- --- KIAA1109 84162 broad.mit.edu 37 4 123167293 123167309 + Splice_Site DEL TACGATCTTTTTAGTTA TACGATCTTTTTAGTTA - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr4:123167293_123167309delTACGATCTTTTTAGTTA ENST00000264501.4 + 33 5410_5413 c.5037_splice c.e33-1 p.1679_splice KIAA1109_ENST00000455637.1_Splice_Site_p.1679_splice|KIAA1109_ENST00000388738.3_Splice_Site_p.1679_splice Q2LD37 K1109_HUMAN KIAA1109 1679 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TAATTTCACTTACGATCTTTTTAGTTATCTTCCAAAC 0.392 22 46 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149206292 149206292 + Frame_Shift_Del DEL C C - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr5:149206292delC ENST00000309241.5 + 3 341 c.309delC c.(307-309)atfs p.I103fs PPARGC1B_ENST00000394320.3_Frame_Shift_Del_p.I103fs|PPARGC1B_ENST00000403750.1_Frame_Shift_Del_p.I78fs|PPARGC1B_ENST00000360453.4_Frame_Shift_Del_p.I103fs NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 103 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TGGATGACATCCCTGAAGATG 0.607 33 143 --- --- --- --- HOXA11-AS 221883 broad.mit.edu 37 7 27224978 27224978 + RNA DEL T T - rs67321459 TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr7:27224978delT ENST00000522863.1 + 0 574 HOXA11-AS_ENST00000520360.1_RNA CCCCCTTTCCTTTTTTTTTTT 0.527 OREG0003746|OREG0003747 type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=HOXA11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 2 4 --- --- --- --- MRPS35 60488 broad.mit.edu 37 12 27869349 27869349 + Frame_Shift_Del DEL G G - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:27869349delG ENST00000081029.3 + 3 350 c.279delG c.(277-279)aafs p.K93fs MRPS35_ENST00000538315.1_Frame_Shift_Del_p.K93fs NM_021821.3 NP_068593.2 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 93 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 6 Lung SC(9;0.0873) CAGTAAAAAAGGGCGTGCCCA 0.438 67 91 --- --- --- --- FAM71C 196472 broad.mit.edu 37 12 100042354 100042354 + Frame_Shift_Del DEL A A - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr12:100042354delA ENST00000324341.1 + 1 824 c.402delA c.(400-402)gtfs p.V134fs ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 134 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) ACAACAGCGTAAAAAAACAGC 0.478 41 129 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 6 --- --- --- --- TRAV9-1 28678 broad.mit.edu 37 14 22279846 22279846 + RNA DEL T T - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr14:22279846delT ENST00000390431.3 + 0 46 AATTTGTTTATTTTTTTTTCA 0.408 7 16 --- --- --- --- CARD8 22900 broad.mit.edu 37 19 48733782 48733783 + Frame_Shift_Ins INS - - G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:48733782_48733783insG ENST00000391898.3 - 7 989_990 c.947_948insC c.(946-948)atcfs p.I316fs CARD8_ENST00000520753.1_Frame_Shift_Ins_p.I316fs|CARD8_ENST00000357778.5_Frame_Shift_Ins_p.I41fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.I316fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.I266fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.I266fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.I316fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I210fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.I266fs NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 210 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) ATGTGTTGGAAGTGATGGGGAT 0.540 32 52 --- --- --- --- PPP6R1 22870 broad.mit.edu 37 19 55751401 55751401 + Frame_Shift_Del DEL C C - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr19:55751401delC ENST00000412770.2 - 12 2009 c.1443delG c.(1441-1443)ggfs p.G481fs PPP6R1_ENST00000587283.1_Frame_Shift_Del_p.G481fs NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 481 regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 CTGCATTGGGCCCCTTCTCCG 0.662 2 4 --- --- --- --- PTGIS 5740 broad.mit.edu 37 20 48130834 48130834 + Frame_Shift_Del DEL C C - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr20:48130834delC ENST00000244043.4 - 7 983 c.954delG c.(952-954)tgfs p.W318fs PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 318 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) GCTCCGCTTGCCAAAGGATAC 0.582 25 78 --- --- --- --- IFNAR2 3455 broad.mit.edu 37 21 34635794 34635796 + In_Frame_Del DEL ATA ATA - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr21:34635794_34635796delATA ENST00000342136.4 + 9 1863_1865 c.1537_1539delATA c.(1537-1539)del p.I513del AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_In_Frame_Del_p.I513del|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000404220.3_3'UTR P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 513 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) GGATGGTTATATAATGAGATGAC 0.468 10 96 --- --- --- --- BCRP7 100133163 broad.mit.edu 37 22 18843723 18843724 + RNA INS - - A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chr22:18843723_18843724insA ENST00000412938.1 + 0 2337 AGGGGCACCCCACGGCCTGGAG 0.619 3 4 --- --- --- --- MAGEB17 645864 broad.mit.edu 37 X 16189451 16189451 + Frame_Shift_Del DEL G G - TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f317d31-c9a4-4345-b5b1-b75776536402 fd427c46-8988-4947-9cc1-c129b6c3981a g.chrX:16189451delG ENST00000400004.2 + 2 1298 c.946delG c.(946-948)ccfs p.A316fs MAGEB17_ENST00000400003.1_Frame_Shift_Del_p.A316fs|MAGEB17_ENST00000329538.5_Frame_Shift_Del_p.316fs NM_001277307.1 NP_001264236.1 melanoma antigen family B, 17 GGAAGAGCAAGCCAGAGCCAG 0.537 3 4 --- --- --- ---